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You searched for subject:(recessive). Showing records 1 – 30 of 65 total matches.

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Texas A&M University

1. Kondru, Vijaya. The Impact of Hypophosphatemia on Chondrocyte Fate.

Degree: MS, Oral Biology, 2017, Texas A&M University

 Dentin Matrix Protein 1(DMP1) is a non-collagenous phosphoprotein, belonging to the Small Integrin small integrin-binding ligand, N-linked glycoprotein (SIBLING) family, the deficiency or mutation of… (more)

Subjects/Keywords: DMP1; Autosomal Recessive Hypophosphatemic Rickets; SIBLING proteins

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APA (6th Edition):

Kondru, V. (2017). The Impact of Hypophosphatemia on Chondrocyte Fate. (Masters Thesis). Texas A&M University. Retrieved from http://hdl.handle.net/1969.1/165846

Chicago Manual of Style (16th Edition):

Kondru, Vijaya. “The Impact of Hypophosphatemia on Chondrocyte Fate.” 2017. Masters Thesis, Texas A&M University. Accessed March 08, 2021. http://hdl.handle.net/1969.1/165846.

MLA Handbook (7th Edition):

Kondru, Vijaya. “The Impact of Hypophosphatemia on Chondrocyte Fate.” 2017. Web. 08 Mar 2021.

Vancouver:

Kondru V. The Impact of Hypophosphatemia on Chondrocyte Fate. [Internet] [Masters thesis]. Texas A&M University; 2017. [cited 2021 Mar 08]. Available from: http://hdl.handle.net/1969.1/165846.

Council of Science Editors:

Kondru V. The Impact of Hypophosphatemia on Chondrocyte Fate. [Masters Thesis]. Texas A&M University; 2017. Available from: http://hdl.handle.net/1969.1/165846


Queen Mary, University of London

2. Bland, Philip James. The genetic and functional role of ABCA12 in Harlequin Ichthyosis.

Degree: PhD, 2016, Queen Mary, University of London

 Harlequin Ichthyosis (HI) is the most severe disorder in the family of autosomal recessive congenital ichthyosis (ARCI). Recessive mutations in the ABC transporter ABCA12 were… (more)

Subjects/Keywords: Harlequin Ichthyosis; autosomal recessive congenital ichthyosis; ABCA12

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APA (6th Edition):

Bland, P. J. (2016). The genetic and functional role of ABCA12 in Harlequin Ichthyosis. (Doctoral Dissertation). Queen Mary, University of London. Retrieved from http://qmro.qmul.ac.uk/xmlui/handle/123456789/12571 ; https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.775189

Chicago Manual of Style (16th Edition):

Bland, Philip James. “The genetic and functional role of ABCA12 in Harlequin Ichthyosis.” 2016. Doctoral Dissertation, Queen Mary, University of London. Accessed March 08, 2021. http://qmro.qmul.ac.uk/xmlui/handle/123456789/12571 ; https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.775189.

MLA Handbook (7th Edition):

Bland, Philip James. “The genetic and functional role of ABCA12 in Harlequin Ichthyosis.” 2016. Web. 08 Mar 2021.

Vancouver:

Bland PJ. The genetic and functional role of ABCA12 in Harlequin Ichthyosis. [Internet] [Doctoral dissertation]. Queen Mary, University of London; 2016. [cited 2021 Mar 08]. Available from: http://qmro.qmul.ac.uk/xmlui/handle/123456789/12571 ; https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.775189.

Council of Science Editors:

Bland PJ. The genetic and functional role of ABCA12 in Harlequin Ichthyosis. [Doctoral Dissertation]. Queen Mary, University of London; 2016. Available from: http://qmro.qmul.ac.uk/xmlui/handle/123456789/12571 ; https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.775189


University of the Western Cape

3. Magwebu, Zandisiwe Emilia Z.E. Molecular genetics: strategies to identify congenital cataract genes in captive-bred vervet monkeys .

Degree: 2013, University of the Western Cape

 Molecular genetics: strategies to indentify congenital cataract genes in captive-bred Vervet monkeys Zandisiwe Emilia Magwebu MSc thesis, Department of Medical Biosciences, University of the Western… (more)

Subjects/Keywords: Vervet monkeys; Congenital cataract; Autosomal recessive cataract

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APA (6th Edition):

Magwebu, Z. E. Z. E. (2013). Molecular genetics: strategies to identify congenital cataract genes in captive-bred vervet monkeys . (Thesis). University of the Western Cape. Retrieved from http://hdl.handle.net/11394/4265

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16th Edition):

Magwebu, Zandisiwe Emilia Z E. “Molecular genetics: strategies to identify congenital cataract genes in captive-bred vervet monkeys .” 2013. Thesis, University of the Western Cape. Accessed March 08, 2021. http://hdl.handle.net/11394/4265.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7th Edition):

Magwebu, Zandisiwe Emilia Z E. “Molecular genetics: strategies to identify congenital cataract genes in captive-bred vervet monkeys .” 2013. Web. 08 Mar 2021.

Vancouver:

Magwebu ZEZE. Molecular genetics: strategies to identify congenital cataract genes in captive-bred vervet monkeys . [Internet] [Thesis]. University of the Western Cape; 2013. [cited 2021 Mar 08]. Available from: http://hdl.handle.net/11394/4265.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Magwebu ZEZE. Molecular genetics: strategies to identify congenital cataract genes in captive-bred vervet monkeys . [Thesis]. University of the Western Cape; 2013. Available from: http://hdl.handle.net/11394/4265

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

4. Zhao, Yang. Mutation analysis of the USH2A gene in Japanese patients with non-syndromic autosomal recessive retinitis pigmentosa : 非症候群性の常染色体劣性網膜色素変性の日本人患者におけるUSH2A遺伝子の変異解析.

Degree: 博士(医学), 2013, Hamamatsu University School of Medicine / 浜松医科大学

Objective: To identify disease-causing USH2A (Usher syndrome 2A) gene mutations in Japanese patients with non-syndromic retinitis pigmentosa (RP). Design: Case series.Participants: Hundred unrelated Japanese patients… (more)

Subjects/Keywords: Retinitis pigmentosa; autosomal recessive; USH2A gene; Japanese patient

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APA (6th Edition):

Zhao, Y. (2013). Mutation analysis of the USH2A gene in Japanese patients with non-syndromic autosomal recessive retinitis pigmentosa : 非症候群性の常染色体劣性網膜色素変性の日本人患者におけるUSH2A遺伝子の変異解析. (Thesis). Hamamatsu University School of Medicine / 浜松医科大学. Retrieved from http://hdl.handle.net/10271/2768

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16th Edition):

Zhao, Yang. “Mutation analysis of the USH2A gene in Japanese patients with non-syndromic autosomal recessive retinitis pigmentosa : 非症候群性の常染色体劣性網膜色素変性の日本人患者におけるUSH2A遺伝子の変異解析.” 2013. Thesis, Hamamatsu University School of Medicine / 浜松医科大学. Accessed March 08, 2021. http://hdl.handle.net/10271/2768.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7th Edition):

Zhao, Yang. “Mutation analysis of the USH2A gene in Japanese patients with non-syndromic autosomal recessive retinitis pigmentosa : 非症候群性の常染色体劣性網膜色素変性の日本人患者におけるUSH2A遺伝子の変異解析.” 2013. Web. 08 Mar 2021.

Vancouver:

Zhao Y. Mutation analysis of the USH2A gene in Japanese patients with non-syndromic autosomal recessive retinitis pigmentosa : 非症候群性の常染色体劣性網膜色素変性の日本人患者におけるUSH2A遺伝子の変異解析. [Internet] [Thesis]. Hamamatsu University School of Medicine / 浜松医科大学; 2013. [cited 2021 Mar 08]. Available from: http://hdl.handle.net/10271/2768.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Zhao Y. Mutation analysis of the USH2A gene in Japanese patients with non-syndromic autosomal recessive retinitis pigmentosa : 非症候群性の常染色体劣性網膜色素変性の日本人患者におけるUSH2A遺伝子の変異解析. [Thesis]. Hamamatsu University School of Medicine / 浜松医科大学; 2013. Available from: http://hdl.handle.net/10271/2768

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation


Vanderbilt University

5. Wanga, Valentine Adhiambo. Residual-based Test of Conditional Association between Continuous and Ordinal Variables with Application to Genome-wide Association Studies.

Degree: MS, Biostatistics, 2014, Vanderbilt University

 The discovery of genes linked with a large array of diseases has been accelerated by genome-wide association studies (GWAS), in which genetic variants in different… (more)

Subjects/Keywords: categorical.; additive; recessive; tenofovir; HIV; pharmacokinetics; creatinine clearance; CoCoBOT; dominant

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APA (6th Edition):

Wanga, V. A. (2014). Residual-based Test of Conditional Association between Continuous and Ordinal Variables with Application to Genome-wide Association Studies. (Thesis). Vanderbilt University. Retrieved from http://hdl.handle.net/1803/12859

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16th Edition):

Wanga, Valentine Adhiambo. “Residual-based Test of Conditional Association between Continuous and Ordinal Variables with Application to Genome-wide Association Studies.” 2014. Thesis, Vanderbilt University. Accessed March 08, 2021. http://hdl.handle.net/1803/12859.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7th Edition):

Wanga, Valentine Adhiambo. “Residual-based Test of Conditional Association between Continuous and Ordinal Variables with Application to Genome-wide Association Studies.” 2014. Web. 08 Mar 2021.

Vancouver:

Wanga VA. Residual-based Test of Conditional Association between Continuous and Ordinal Variables with Application to Genome-wide Association Studies. [Internet] [Thesis]. Vanderbilt University; 2014. [cited 2021 Mar 08]. Available from: http://hdl.handle.net/1803/12859.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Wanga VA. Residual-based Test of Conditional Association between Continuous and Ordinal Variables with Application to Genome-wide Association Studies. [Thesis]. Vanderbilt University; 2014. Available from: http://hdl.handle.net/1803/12859

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation


Harvard University

6. Lim, Teng Ting. Exploring the genetic landscape of complex diseases using the recessive model.

Degree: PhD, Biology: Medical Sciences, Division of, 2014, Harvard University

 High-throughput sequencing technologies have changed the way we identify, study and understand the role of rare variation in Mendelian diseases. Sequencing in complex diseases have… (more)

Subjects/Keywords: Genetics; complex disease; exome sequencing; rare variant; recessive

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APA (6th Edition):

Lim, T. T. (2014). Exploring the genetic landscape of complex diseases using the recessive model. (Doctoral Dissertation). Harvard University. Retrieved from http://nrs.harvard.edu/urn-3:HUL.InstRepos:12274464

Chicago Manual of Style (16th Edition):

Lim, Teng Ting. “Exploring the genetic landscape of complex diseases using the recessive model.” 2014. Doctoral Dissertation, Harvard University. Accessed March 08, 2021. http://nrs.harvard.edu/urn-3:HUL.InstRepos:12274464.

MLA Handbook (7th Edition):

Lim, Teng Ting. “Exploring the genetic landscape of complex diseases using the recessive model.” 2014. Web. 08 Mar 2021.

Vancouver:

Lim TT. Exploring the genetic landscape of complex diseases using the recessive model. [Internet] [Doctoral dissertation]. Harvard University; 2014. [cited 2021 Mar 08]. Available from: http://nrs.harvard.edu/urn-3:HUL.InstRepos:12274464.

Council of Science Editors:

Lim TT. Exploring the genetic landscape of complex diseases using the recessive model. [Doctoral Dissertation]. Harvard University; 2014. Available from: http://nrs.harvard.edu/urn-3:HUL.InstRepos:12274464

7. Takeda, Ikuko. Autosomal recessive Andersen-Tawil syndrome with a novel mutation L94P in Kir2.1 : Kir2.1に新規ミスセンス変異(L94P)を認める常染色体劣性遺伝形式のAndersen-Tawil症候群.

Degree: 博士(医学), 2014, Hiroshima University / 広島大学

 Aim: Dominant negative mutations of the inwardly rectifying K+ channel Kir2.1 cause Andersen-Tawil syndrome, an autosomal dominant disorder. Here, we identified a novel Kir2.1 mutation… (more)

Subjects/Keywords: Andersen-Tawil syndrome; KCNJ2; Kir2.1; autosomal recessive; patch clamp

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APA (6th Edition):

Takeda, I. (2014). Autosomal recessive Andersen-Tawil syndrome with a novel mutation L94P in Kir2.1 : Kir2.1に新規ミスセンス変異(L94P)を認める常染色体劣性遺伝形式のAndersen-Tawil症候群. (Thesis). Hiroshima University / 広島大学. Retrieved from http://ir.lib.hiroshima-u.ac.jp/00036281

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16th Edition):

Takeda, Ikuko. “Autosomal recessive Andersen-Tawil syndrome with a novel mutation L94P in Kir2.1 : Kir2.1に新規ミスセンス変異(L94P)を認める常染色体劣性遺伝形式のAndersen-Tawil症候群.” 2014. Thesis, Hiroshima University / 広島大学. Accessed March 08, 2021. http://ir.lib.hiroshima-u.ac.jp/00036281.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7th Edition):

Takeda, Ikuko. “Autosomal recessive Andersen-Tawil syndrome with a novel mutation L94P in Kir2.1 : Kir2.1に新規ミスセンス変異(L94P)を認める常染色体劣性遺伝形式のAndersen-Tawil症候群.” 2014. Web. 08 Mar 2021.

Vancouver:

Takeda I. Autosomal recessive Andersen-Tawil syndrome with a novel mutation L94P in Kir2.1 : Kir2.1に新規ミスセンス変異(L94P)を認める常染色体劣性遺伝形式のAndersen-Tawil症候群. [Internet] [Thesis]. Hiroshima University / 広島大学; 2014. [cited 2021 Mar 08]. Available from: http://ir.lib.hiroshima-u.ac.jp/00036281.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Takeda I. Autosomal recessive Andersen-Tawil syndrome with a novel mutation L94P in Kir2.1 : Kir2.1に新規ミスセンス変異(L94P)を認める常染色体劣性遺伝形式のAndersen-Tawil症候群. [Thesis]. Hiroshima University / 広島大学; 2014. Available from: http://ir.lib.hiroshima-u.ac.jp/00036281

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation


University of Debrecen

8. Rizvi, Danial. Pharmacological Management of Cystic Fibrosis .

Degree: DE – Általános Orvostudományi Kar, University of Debrecen

 Cystic fibrosis (CF) is an autosomal recessive defect occurring in approximately one in 3,500 live births based on data from neonatal screening. CF is clinically… (more)

Subjects/Keywords: Cystic Fibrosis; CFTR; Autosomal Recessive

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APA (6th Edition):

Rizvi, D. (n.d.). Pharmacological Management of Cystic Fibrosis . (Thesis). University of Debrecen. Retrieved from http://hdl.handle.net/2437/273747

Note: this citation may be lacking information needed for this citation format:
No year of publication.
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16th Edition):

Rizvi, Danial. “Pharmacological Management of Cystic Fibrosis .” Thesis, University of Debrecen. Accessed March 08, 2021. http://hdl.handle.net/2437/273747.

Note: this citation may be lacking information needed for this citation format:
No year of publication.
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7th Edition):

Rizvi, Danial. “Pharmacological Management of Cystic Fibrosis .” Web. 08 Mar 2021.

Note: this citation may be lacking information needed for this citation format:
No year of publication.

Vancouver:

Rizvi D. Pharmacological Management of Cystic Fibrosis . [Internet] [Thesis]. University of Debrecen; [cited 2021 Mar 08]. Available from: http://hdl.handle.net/2437/273747.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
No year of publication.

Council of Science Editors:

Rizvi D. Pharmacological Management of Cystic Fibrosis . [Thesis]. University of Debrecen; Available from: http://hdl.handle.net/2437/273747

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
No year of publication.


University of New South Wales

9. Pan, Annie Ying-Hui. Disease gene identification in Australian kelpies.

Degree: Biotechnology & Biomolecular Sciences, 2012, University of New South Wales

 The Australian Kelpie was generated from three pairs of working Scottish Collie dogs in 1870. The new breed was developed in an effort to ease… (more)

Subjects/Keywords: Ataxia; Australian Kelpie; Cerebellar Abiotrophy; Dog; Canine model; Autosomal recessive disease

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APA (6th Edition):

Pan, A. Y. (2012). Disease gene identification in Australian kelpies. (Masters Thesis). University of New South Wales. Retrieved from http://handle.unsw.edu.au/1959.4/51889 ; https://unsworks.unsw.edu.au/fapi/datastream/unsworks:10558/SOURCE02?view=true

Chicago Manual of Style (16th Edition):

Pan, Annie Ying-Hui. “Disease gene identification in Australian kelpies.” 2012. Masters Thesis, University of New South Wales. Accessed March 08, 2021. http://handle.unsw.edu.au/1959.4/51889 ; https://unsworks.unsw.edu.au/fapi/datastream/unsworks:10558/SOURCE02?view=true.

MLA Handbook (7th Edition):

Pan, Annie Ying-Hui. “Disease gene identification in Australian kelpies.” 2012. Web. 08 Mar 2021.

Vancouver:

Pan AY. Disease gene identification in Australian kelpies. [Internet] [Masters thesis]. University of New South Wales; 2012. [cited 2021 Mar 08]. Available from: http://handle.unsw.edu.au/1959.4/51889 ; https://unsworks.unsw.edu.au/fapi/datastream/unsworks:10558/SOURCE02?view=true.

Council of Science Editors:

Pan AY. Disease gene identification in Australian kelpies. [Masters Thesis]. University of New South Wales; 2012. Available from: http://handle.unsw.edu.au/1959.4/51889 ; https://unsworks.unsw.edu.au/fapi/datastream/unsworks:10558/SOURCE02?view=true


Texas A&M University

10. Lin, Shuxian. Dmp1 Regulates Osteocyte Function Via Wnt/β-Catenin Signaling Pathway.

Degree: PhD, Biomedical Sciences, 2014, Texas A&M University

 DMP1, dentin matrix protein 1, was cloned from a rat dentin cDNA library 20 years ago. Initially, this non-collagenous matrix protein was thought to be… (more)

Subjects/Keywords: Dentin Matrix Protein 1; Wnt/β-catenin; Autosomal Recessive Hypophosphatemic Rickets; Skeleton; Tooth

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6th Edition):

Lin, S. (2014). Dmp1 Regulates Osteocyte Function Via Wnt/β-Catenin Signaling Pathway. (Doctoral Dissertation). Texas A&M University. Retrieved from http://hdl.handle.net/1969.1/152604

Chicago Manual of Style (16th Edition):

Lin, Shuxian. “Dmp1 Regulates Osteocyte Function Via Wnt/β-Catenin Signaling Pathway.” 2014. Doctoral Dissertation, Texas A&M University. Accessed March 08, 2021. http://hdl.handle.net/1969.1/152604.

MLA Handbook (7th Edition):

Lin, Shuxian. “Dmp1 Regulates Osteocyte Function Via Wnt/β-Catenin Signaling Pathway.” 2014. Web. 08 Mar 2021.

Vancouver:

Lin S. Dmp1 Regulates Osteocyte Function Via Wnt/β-Catenin Signaling Pathway. [Internet] [Doctoral dissertation]. Texas A&M University; 2014. [cited 2021 Mar 08]. Available from: http://hdl.handle.net/1969.1/152604.

Council of Science Editors:

Lin S. Dmp1 Regulates Osteocyte Function Via Wnt/β-Catenin Signaling Pathway. [Doctoral Dissertation]. Texas A&M University; 2014. Available from: http://hdl.handle.net/1969.1/152604

11. Gancheva, Diana / Ганчева, Диана. Peculiarities in the clinical approach in patients with Wilson’s disease. // Особености в клиничния подход при пациенти с болест на Wilson.

Degree: 2014, Medical University of Varna

 [EN] The dissertation is dedicated to Wilson’s disease (WD) – a rare inherited autosomal recessive disease, related to a disorder of copper metabolism. Its aim… (more)

Subjects/Keywords: Wilson’s disease; inherited autosomal recessive disease; copper metabolism; Вътрешни болести / Internal Diseases; Гастроентерология / Gastroenterology

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APA (6th Edition):

Gancheva, Diana / Ганчева, . (2014). Peculiarities in the clinical approach in patients with Wilson’s disease. // Особености в клиничния подход при пациенти с болест на Wilson. (Thesis). Medical University of Varna. Retrieved from http://repository.mu-varna.bg/handle/nls/43

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16th Edition):

Gancheva, Diana / Ганчева, Диана. “Peculiarities in the clinical approach in patients with Wilson’s disease. // Особености в клиничния подход при пациенти с болест на Wilson.” 2014. Thesis, Medical University of Varna. Accessed March 08, 2021. http://repository.mu-varna.bg/handle/nls/43.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7th Edition):

Gancheva, Diana / Ганчева, Диана. “Peculiarities in the clinical approach in patients with Wilson’s disease. // Особености в клиничния подход при пациенти с болест на Wilson.” 2014. Web. 08 Mar 2021.

Vancouver:

Gancheva, Diana / Ганчева . Peculiarities in the clinical approach in patients with Wilson’s disease. // Особености в клиничния подход при пациенти с болест на Wilson. [Internet] [Thesis]. Medical University of Varna; 2014. [cited 2021 Mar 08]. Available from: http://repository.mu-varna.bg/handle/nls/43.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Gancheva, Diana / Ганчева . Peculiarities in the clinical approach in patients with Wilson’s disease. // Особености в клиничния подход при пациенти с болест на Wilson. [Thesis]. Medical University of Varna; 2014. Available from: http://repository.mu-varna.bg/handle/nls/43

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation


Freie Universität Berlin

12. Abbasi Moheb, Lia. Identifizierung von drei neuen Genen für autosomal rezessive geistige Behinderung und molekulare Charakterisierung der zugrundeliegenden Gendefekte.

Degree: 2012, Freie Universität Berlin

 Mentale Retardierung (MR), eine der komplexesten Erkrankungen, hat eine weltweite Prävalenz von etwa 2% und ist ein häufiger Grund schwerster Behinderung. Aus diesem Grund ist… (more)

Subjects/Keywords: Intellectual Disability; autosomal recessive; brain; 500 Naturwissenschaften und Mathematik::570 Biowissenschaften; Biologie

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APA (6th Edition):

Abbasi Moheb, L. (2012). Identifizierung von drei neuen Genen für autosomal rezessive geistige Behinderung und molekulare Charakterisierung der zugrundeliegenden Gendefekte. (Thesis). Freie Universität Berlin. Retrieved from https://refubium.fu-berlin.de/handle/fub188/11246

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16th Edition):

Abbasi Moheb, Lia. “Identifizierung von drei neuen Genen für autosomal rezessive geistige Behinderung und molekulare Charakterisierung der zugrundeliegenden Gendefekte.” 2012. Thesis, Freie Universität Berlin. Accessed March 08, 2021. https://refubium.fu-berlin.de/handle/fub188/11246.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7th Edition):

Abbasi Moheb, Lia. “Identifizierung von drei neuen Genen für autosomal rezessive geistige Behinderung und molekulare Charakterisierung der zugrundeliegenden Gendefekte.” 2012. Web. 08 Mar 2021.

Vancouver:

Abbasi Moheb L. Identifizierung von drei neuen Genen für autosomal rezessive geistige Behinderung und molekulare Charakterisierung der zugrundeliegenden Gendefekte. [Internet] [Thesis]. Freie Universität Berlin; 2012. [cited 2021 Mar 08]. Available from: https://refubium.fu-berlin.de/handle/fub188/11246.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Abbasi Moheb L. Identifizierung von drei neuen Genen für autosomal rezessive geistige Behinderung und molekulare Charakterisierung der zugrundeliegenden Gendefekte. [Thesis]. Freie Universität Berlin; 2012. Available from: https://refubium.fu-berlin.de/handle/fub188/11246

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation


Queen Mary, University of London

13. Bradshaw, Teisha Y. The cellular phenotype of the neurodegenerative disease autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Degree: PhD, 2014, Queen Mary, University of London

 Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS) is an early onset neurodegenerative disorder resulting from mutations in the SACS gene that encodes the protein… (more)

Subjects/Keywords: 616.8; Medicine; Endocrinology; Autosomal recessive spastic ataxia of Charlevoix Saguenay; Neurodegenerative diseases; SACS gene; Sacsin

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6th Edition):

Bradshaw, T. Y. (2014). The cellular phenotype of the neurodegenerative disease autosomal recessive spastic ataxia of Charlevoix-Saguenay. (Doctoral Dissertation). Queen Mary, University of London. Retrieved from http://qmro.qmul.ac.uk/xmlui/handle/123456789/8924 ; https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.667309

Chicago Manual of Style (16th Edition):

Bradshaw, Teisha Y. “The cellular phenotype of the neurodegenerative disease autosomal recessive spastic ataxia of Charlevoix-Saguenay.” 2014. Doctoral Dissertation, Queen Mary, University of London. Accessed March 08, 2021. http://qmro.qmul.ac.uk/xmlui/handle/123456789/8924 ; https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.667309.

MLA Handbook (7th Edition):

Bradshaw, Teisha Y. “The cellular phenotype of the neurodegenerative disease autosomal recessive spastic ataxia of Charlevoix-Saguenay.” 2014. Web. 08 Mar 2021.

Vancouver:

Bradshaw TY. The cellular phenotype of the neurodegenerative disease autosomal recessive spastic ataxia of Charlevoix-Saguenay. [Internet] [Doctoral dissertation]. Queen Mary, University of London; 2014. [cited 2021 Mar 08]. Available from: http://qmro.qmul.ac.uk/xmlui/handle/123456789/8924 ; https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.667309.

Council of Science Editors:

Bradshaw TY. The cellular phenotype of the neurodegenerative disease autosomal recessive spastic ataxia of Charlevoix-Saguenay. [Doctoral Dissertation]. Queen Mary, University of London; 2014. Available from: http://qmro.qmul.ac.uk/xmlui/handle/123456789/8924 ; https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.667309


University of Lund

14. Ellberg, Carolina. Insights into breast cancer: New familial patterns and identification of a potential predictive marker.

Degree: 2014, University of Lund

 The last proportion of heredity in breast cancer has proven to be somewhat elusive despite massive attempts to identify the associated factors. Approximately 50 percent… (more)

Subjects/Keywords: Cancer and Oncology; BRCA1; BRCA2; Spider telangiectasias; Heredity; Parental inheritance; Recessive; familial; Breast cancer

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APA (6th Edition):

Ellberg, C. (2014). Insights into breast cancer: New familial patterns and identification of a potential predictive marker. (Doctoral Dissertation). University of Lund. Retrieved from https://lup.lub.lu.se/record/4393868 ; https://portal.research.lu.se/ws/files/4329456/4393898.pdf

Chicago Manual of Style (16th Edition):

Ellberg, Carolina. “Insights into breast cancer: New familial patterns and identification of a potential predictive marker.” 2014. Doctoral Dissertation, University of Lund. Accessed March 08, 2021. https://lup.lub.lu.se/record/4393868 ; https://portal.research.lu.se/ws/files/4329456/4393898.pdf.

MLA Handbook (7th Edition):

Ellberg, Carolina. “Insights into breast cancer: New familial patterns and identification of a potential predictive marker.” 2014. Web. 08 Mar 2021.

Vancouver:

Ellberg C. Insights into breast cancer: New familial patterns and identification of a potential predictive marker. [Internet] [Doctoral dissertation]. University of Lund; 2014. [cited 2021 Mar 08]. Available from: https://lup.lub.lu.se/record/4393868 ; https://portal.research.lu.se/ws/files/4329456/4393898.pdf.

Council of Science Editors:

Ellberg C. Insights into breast cancer: New familial patterns and identification of a potential predictive marker. [Doctoral Dissertation]. University of Lund; 2014. Available from: https://lup.lub.lu.se/record/4393868 ; https://portal.research.lu.se/ws/files/4329456/4393898.pdf


University of Edinburgh

15. McQuillan, Ruth. Homozygosity, inbreeding and health in European populations.

Degree: PhD, 2009, University of Edinburgh

 Inbreeding results in increased levels of homozygosity for deleterious recessive alleles, leading to increased incidence of monogenic disease in inbred families. It has also been… (more)

Subjects/Keywords: 576.58; homozygosity; inbreeding; consanguinity; recessive effects

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6th Edition):

McQuillan, R. (2009). Homozygosity, inbreeding and health in European populations. (Doctoral Dissertation). University of Edinburgh. Retrieved from http://hdl.handle.net/1842/5946

Chicago Manual of Style (16th Edition):

McQuillan, Ruth. “Homozygosity, inbreeding and health in European populations.” 2009. Doctoral Dissertation, University of Edinburgh. Accessed March 08, 2021. http://hdl.handle.net/1842/5946.

MLA Handbook (7th Edition):

McQuillan, Ruth. “Homozygosity, inbreeding and health in European populations.” 2009. Web. 08 Mar 2021.

Vancouver:

McQuillan R. Homozygosity, inbreeding and health in European populations. [Internet] [Doctoral dissertation]. University of Edinburgh; 2009. [cited 2021 Mar 08]. Available from: http://hdl.handle.net/1842/5946.

Council of Science Editors:

McQuillan R. Homozygosity, inbreeding and health in European populations. [Doctoral Dissertation]. University of Edinburgh; 2009. Available from: http://hdl.handle.net/1842/5946


Queen Mary, University of London

16. Duncan, Emma Jane. The neurodegenerative disease Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) : cellular defects due to loss of sacsin function.

Degree: PhD, 2016, Queen Mary, University of London

 Sacsin, which is mutated in the neurodegenerative disease Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS), is a 520 kDa modular protein with regions of homology… (more)

Subjects/Keywords: 616.8; Endocrinology; Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay; ARSACS; Neurodegenerative Disease; Sacsin

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6th Edition):

Duncan, E. J. (2016). The neurodegenerative disease Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) : cellular defects due to loss of sacsin function. (Doctoral Dissertation). Queen Mary, University of London. Retrieved from http://qmro.qmul.ac.uk/xmlui/handle/123456789/23110 ; https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.765788

Chicago Manual of Style (16th Edition):

Duncan, Emma Jane. “The neurodegenerative disease Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) : cellular defects due to loss of sacsin function.” 2016. Doctoral Dissertation, Queen Mary, University of London. Accessed March 08, 2021. http://qmro.qmul.ac.uk/xmlui/handle/123456789/23110 ; https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.765788.

MLA Handbook (7th Edition):

Duncan, Emma Jane. “The neurodegenerative disease Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) : cellular defects due to loss of sacsin function.” 2016. Web. 08 Mar 2021.

Vancouver:

Duncan EJ. The neurodegenerative disease Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) : cellular defects due to loss of sacsin function. [Internet] [Doctoral dissertation]. Queen Mary, University of London; 2016. [cited 2021 Mar 08]. Available from: http://qmro.qmul.ac.uk/xmlui/handle/123456789/23110 ; https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.765788.

Council of Science Editors:

Duncan EJ. The neurodegenerative disease Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) : cellular defects due to loss of sacsin function. [Doctoral Dissertation]. Queen Mary, University of London; 2016. Available from: http://qmro.qmul.ac.uk/xmlui/handle/123456789/23110 ; https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.765788


Indian Institute of Science

17. Singhmar, Pooja. Functional Analysis Of Primary Microcephaly Gene Product ASPM.

Degree: PhD, Faculty of Science, 2013, Indian Institute of Science

 Autosomal recessive primary microcephaly (MCPH) is defined by congenital microcephaly and associated mental retardation with head circumference of the affected individual at least 3 standard… (more)

Subjects/Keywords: Microcephaly Gene; Autosomal Recessive Primary Microcephaly (MCPH); Abnormal Spindle-like, Micrcephaly Associated Protein (ASPM); MCPH Genes; Microcephaly Protein; Neurology

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6th Edition):

Singhmar, P. (2013). Functional Analysis Of Primary Microcephaly Gene Product ASPM. (Doctoral Dissertation). Indian Institute of Science. Retrieved from http://etd.iisc.ac.in/handle/2005/2060

Chicago Manual of Style (16th Edition):

Singhmar, Pooja. “Functional Analysis Of Primary Microcephaly Gene Product ASPM.” 2013. Doctoral Dissertation, Indian Institute of Science. Accessed March 08, 2021. http://etd.iisc.ac.in/handle/2005/2060.

MLA Handbook (7th Edition):

Singhmar, Pooja. “Functional Analysis Of Primary Microcephaly Gene Product ASPM.” 2013. Web. 08 Mar 2021.

Vancouver:

Singhmar P. Functional Analysis Of Primary Microcephaly Gene Product ASPM. [Internet] [Doctoral dissertation]. Indian Institute of Science; 2013. [cited 2021 Mar 08]. Available from: http://etd.iisc.ac.in/handle/2005/2060.

Council of Science Editors:

Singhmar P. Functional Analysis Of Primary Microcephaly Gene Product ASPM. [Doctoral Dissertation]. Indian Institute of Science; 2013. Available from: http://etd.iisc.ac.in/handle/2005/2060

18. Carton-Buonafine, Coralie. Architecture génétique des troubles du spectre autistique dans les îles Féroé : Genetic Architecture of Autism Spectrum Disorders in the Faroe Islands.

Degree: Docteur es, Sciences de la vie et de la santé, 2018, Sorbonne Paris Cité

 Les Troubles du Spectre Autistique (TSA) forment un groupe hétérogène de troubles neurodéveloppementaux caractérisés par des déficits de l’interaction sociale et de la communication ainsi… (more)

Subjects/Keywords: Troubles du Spectre Autistique (TSA); Consanguinité; Mutations de novo; Mutations récessives; Autism Spectrum Disorders (ASD); Inbreeding; De novo variants; Recessive variants

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6th Edition):

Carton-Buonafine, C. (2018). Architecture génétique des troubles du spectre autistique dans les îles Féroé : Genetic Architecture of Autism Spectrum Disorders in the Faroe Islands. (Doctoral Dissertation). Sorbonne Paris Cité. Retrieved from http://www.theses.fr/2018USPCC117

Chicago Manual of Style (16th Edition):

Carton-Buonafine, Coralie. “Architecture génétique des troubles du spectre autistique dans les îles Féroé : Genetic Architecture of Autism Spectrum Disorders in the Faroe Islands.” 2018. Doctoral Dissertation, Sorbonne Paris Cité. Accessed March 08, 2021. http://www.theses.fr/2018USPCC117.

MLA Handbook (7th Edition):

Carton-Buonafine, Coralie. “Architecture génétique des troubles du spectre autistique dans les îles Féroé : Genetic Architecture of Autism Spectrum Disorders in the Faroe Islands.” 2018. Web. 08 Mar 2021.

Vancouver:

Carton-Buonafine C. Architecture génétique des troubles du spectre autistique dans les îles Féroé : Genetic Architecture of Autism Spectrum Disorders in the Faroe Islands. [Internet] [Doctoral dissertation]. Sorbonne Paris Cité; 2018. [cited 2021 Mar 08]. Available from: http://www.theses.fr/2018USPCC117.

Council of Science Editors:

Carton-Buonafine C. Architecture génétique des troubles du spectre autistique dans les îles Féroé : Genetic Architecture of Autism Spectrum Disorders in the Faroe Islands. [Doctoral Dissertation]. Sorbonne Paris Cité; 2018. Available from: http://www.theses.fr/2018USPCC117


Université Montpellier II

19. Poulicard, Nils. Emergence et adaptation du Rice yellow mottle virus : relations entre histoire évolutive, contournement de résistance et interactions hôte/pathogène : Emergence and adaptation of Rice yellow mottle virus : relationships between evolutionary history, resistance-breakdown and host/pathogen interactions.

Degree: Docteur es, Biochimie et biologie moléculaire, 2010, Université Montpellier II

Le Rice yellow mottle virus (RYMV) est un virus émergeant qui constitue actuellement une contrainte majeure à la riziculture sur le continent africain. Quelques rares… (more)

Subjects/Keywords: Virus de plante; Émergence; Résistance récessive; Adaptation; Sélection; Interactions moléculaires; Plant virus; Emergence; Recessive resistance; Adaptation; Selection; Molecular interactions

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6th Edition):

Poulicard, N. (2010). Emergence et adaptation du Rice yellow mottle virus : relations entre histoire évolutive, contournement de résistance et interactions hôte/pathogène : Emergence and adaptation of Rice yellow mottle virus : relationships between evolutionary history, resistance-breakdown and host/pathogen interactions. (Doctoral Dissertation). Université Montpellier II. Retrieved from http://www.theses.fr/2010MON20121

Chicago Manual of Style (16th Edition):

Poulicard, Nils. “Emergence et adaptation du Rice yellow mottle virus : relations entre histoire évolutive, contournement de résistance et interactions hôte/pathogène : Emergence and adaptation of Rice yellow mottle virus : relationships between evolutionary history, resistance-breakdown and host/pathogen interactions.” 2010. Doctoral Dissertation, Université Montpellier II. Accessed March 08, 2021. http://www.theses.fr/2010MON20121.

MLA Handbook (7th Edition):

Poulicard, Nils. “Emergence et adaptation du Rice yellow mottle virus : relations entre histoire évolutive, contournement de résistance et interactions hôte/pathogène : Emergence and adaptation of Rice yellow mottle virus : relationships between evolutionary history, resistance-breakdown and host/pathogen interactions.” 2010. Web. 08 Mar 2021.

Vancouver:

Poulicard N. Emergence et adaptation du Rice yellow mottle virus : relations entre histoire évolutive, contournement de résistance et interactions hôte/pathogène : Emergence and adaptation of Rice yellow mottle virus : relationships between evolutionary history, resistance-breakdown and host/pathogen interactions. [Internet] [Doctoral dissertation]. Université Montpellier II; 2010. [cited 2021 Mar 08]. Available from: http://www.theses.fr/2010MON20121.

Council of Science Editors:

Poulicard N. Emergence et adaptation du Rice yellow mottle virus : relations entre histoire évolutive, contournement de résistance et interactions hôte/pathogène : Emergence and adaptation of Rice yellow mottle virus : relationships between evolutionary history, resistance-breakdown and host/pathogen interactions. [Doctoral Dissertation]. Université Montpellier II; 2010. Available from: http://www.theses.fr/2010MON20121


Freie Universität Berlin

20. Püttmann, Lucia. Identifizierung und Charakterisierung der ursächlichen genetischen Defekte für autosomal rezessive mentale Retardierung in zwei iranischen Familien.

Degree: 2013, Freie Universität Berlin

 Besonders autosomal-rezessive mentale Retardierung ist durch ausgeprägte Heterogenität gekennzeichnet und umfasst eine große Vielfalt von syndromalen und nicht-syndromalen Formen. Im Rahmen dieser Arbeit wurden zwei… (more)

Subjects/Keywords: intellectual disability; mental retardation; autosomal; monogenic disorder; recessive inheritance; 500 Naturwissenschaften und Mathematik::570 Biowissenschaften; Biologie::576 Genetik und Evolution

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6th Edition):

Püttmann, L. (2013). Identifizierung und Charakterisierung der ursächlichen genetischen Defekte für autosomal rezessive mentale Retardierung in zwei iranischen Familien. (Thesis). Freie Universität Berlin. Retrieved from http://dx.doi.org/10.17169/refubium-14309

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16th Edition):

Püttmann, Lucia. “Identifizierung und Charakterisierung der ursächlichen genetischen Defekte für autosomal rezessive mentale Retardierung in zwei iranischen Familien.” 2013. Thesis, Freie Universität Berlin. Accessed March 08, 2021. http://dx.doi.org/10.17169/refubium-14309.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7th Edition):

Püttmann, Lucia. “Identifizierung und Charakterisierung der ursächlichen genetischen Defekte für autosomal rezessive mentale Retardierung in zwei iranischen Familien.” 2013. Web. 08 Mar 2021.

Vancouver:

Püttmann L. Identifizierung und Charakterisierung der ursächlichen genetischen Defekte für autosomal rezessive mentale Retardierung in zwei iranischen Familien. [Internet] [Thesis]. Freie Universität Berlin; 2013. [cited 2021 Mar 08]. Available from: http://dx.doi.org/10.17169/refubium-14309.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Püttmann L. Identifizierung und Charakterisierung der ursächlichen genetischen Defekte für autosomal rezessive mentale Retardierung in zwei iranischen Familien. [Thesis]. Freie Universität Berlin; 2013. Available from: http://dx.doi.org/10.17169/refubium-14309

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation


Freie Universität Berlin

21. Garshasbi, Masoud. Identifizierung von 31 genomischen Loci für autosomal-rezessive geistige Behinderung und molekulargenetische Charakterisierung neuer ursächlicher Mutationen in vier Genen.

Degree: 2010, Freie Universität Berlin

 Schwere kognitive Erkrankungen und Verhaltensstörungen betreffen ca. 1-3% der Weltbevölkerung und stellen damit eine erhebliche Belastung für die betroffenen Familien, aber auch die Gesellschaft als… (more)

Subjects/Keywords: Linkage Analysis; Autosomal Recessive Mental Retardation; TUSC3; MCPH1; CA8; ALDH3A2; 500 Naturwissenschaften und Mathematik::570 Biowissenschaften; Biologie::576 Genetik und Evolution

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6th Edition):

Garshasbi, M. (2010). Identifizierung von 31 genomischen Loci für autosomal-rezessive geistige Behinderung und molekulargenetische Charakterisierung neuer ursächlicher Mutationen in vier Genen. (Thesis). Freie Universität Berlin. Retrieved from http://dx.doi.org/10.17169/refubium-9548

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16th Edition):

Garshasbi, Masoud. “Identifizierung von 31 genomischen Loci für autosomal-rezessive geistige Behinderung und molekulargenetische Charakterisierung neuer ursächlicher Mutationen in vier Genen.” 2010. Thesis, Freie Universität Berlin. Accessed March 08, 2021. http://dx.doi.org/10.17169/refubium-9548.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7th Edition):

Garshasbi, Masoud. “Identifizierung von 31 genomischen Loci für autosomal-rezessive geistige Behinderung und molekulargenetische Charakterisierung neuer ursächlicher Mutationen in vier Genen.” 2010. Web. 08 Mar 2021.

Vancouver:

Garshasbi M. Identifizierung von 31 genomischen Loci für autosomal-rezessive geistige Behinderung und molekulargenetische Charakterisierung neuer ursächlicher Mutationen in vier Genen. [Internet] [Thesis]. Freie Universität Berlin; 2010. [cited 2021 Mar 08]. Available from: http://dx.doi.org/10.17169/refubium-9548.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Garshasbi M. Identifizierung von 31 genomischen Loci für autosomal-rezessive geistige Behinderung und molekulargenetische Charakterisierung neuer ursächlicher Mutationen in vier Genen. [Thesis]. Freie Universität Berlin; 2010. Available from: http://dx.doi.org/10.17169/refubium-9548

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation


Freie Universität Berlin

22. Duncker, Tobias. Korrelationen zwischen Nah-Infrarot und kurzwelliger Autofluoreszenz und Spektral-Domänen optische Kohärenztomografie in Morbus Stargardt.

Degree: 2015, Freie Universität Berlin

 Einleitung: Es wird davon ausgegangen, dass die kurzwellige Fundusautofluoreszenz (SW-AF) von Lipofuszin im retinalen Pigmentepithel (RPE) hervorgerufen wird und die Nahinfrarot-Fundusautofluoreszenz (NIR-AF) von Melanin. Bei… (more)

Subjects/Keywords: ABCA4; fundus autofluorescence; lipofuscin; melanin; optical coherence tomography; recessive Stargardt disease; 600 Technik, Medizin, angewandte Wissenschaften::610 Medizin und Gesundheit

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APA (6th Edition):

Duncker, T. (2015). Korrelationen zwischen Nah-Infrarot und kurzwelliger Autofluoreszenz und Spektral-Domänen optische Kohärenztomografie in Morbus Stargardt. (Thesis). Freie Universität Berlin. Retrieved from https://refubium.fu-berlin.de/handle/fub188/13396

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16th Edition):

Duncker, Tobias. “Korrelationen zwischen Nah-Infrarot und kurzwelliger Autofluoreszenz und Spektral-Domänen optische Kohärenztomografie in Morbus Stargardt.” 2015. Thesis, Freie Universität Berlin. Accessed March 08, 2021. https://refubium.fu-berlin.de/handle/fub188/13396.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7th Edition):

Duncker, Tobias. “Korrelationen zwischen Nah-Infrarot und kurzwelliger Autofluoreszenz und Spektral-Domänen optische Kohärenztomografie in Morbus Stargardt.” 2015. Web. 08 Mar 2021.

Vancouver:

Duncker T. Korrelationen zwischen Nah-Infrarot und kurzwelliger Autofluoreszenz und Spektral-Domänen optische Kohärenztomografie in Morbus Stargardt. [Internet] [Thesis]. Freie Universität Berlin; 2015. [cited 2021 Mar 08]. Available from: https://refubium.fu-berlin.de/handle/fub188/13396.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Duncker T. Korrelationen zwischen Nah-Infrarot und kurzwelliger Autofluoreszenz und Spektral-Domänen optische Kohärenztomografie in Morbus Stargardt. [Thesis]. Freie Universität Berlin; 2015. Available from: https://refubium.fu-berlin.de/handle/fub188/13396

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation


Freie Universität Berlin

23. Falahkohan, Sepiede. Retrograde scientometric analysis of the scientific role of Cystic Fibrosis.

Degree: 2011, Freie Universität Berlin

 Cystic Fibrosis is an inheritable autosomal recessive disease and one of the most frequent metabolism diseases of Europe’s and North America’s white population. Cystic Fibrosis… (more)

Subjects/Keywords: cystic fibrosis; scientometric analysis; h- index; autosomal recessive disease; 600 Technik, Medizin, angewandte Wissenschaften::610 Medizin und Gesundheit

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APA (6th Edition):

Falahkohan, S. (2011). Retrograde scientometric analysis of the scientific role of Cystic Fibrosis. (Thesis). Freie Universität Berlin. Retrieved from http://dx.doi.org/10.17169/refubium-11839

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16th Edition):

Falahkohan, Sepiede. “Retrograde scientometric analysis of the scientific role of Cystic Fibrosis.” 2011. Thesis, Freie Universität Berlin. Accessed March 08, 2021. http://dx.doi.org/10.17169/refubium-11839.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7th Edition):

Falahkohan, Sepiede. “Retrograde scientometric analysis of the scientific role of Cystic Fibrosis.” 2011. Web. 08 Mar 2021.

Vancouver:

Falahkohan S. Retrograde scientometric analysis of the scientific role of Cystic Fibrosis. [Internet] [Thesis]. Freie Universität Berlin; 2011. [cited 2021 Mar 08]. Available from: http://dx.doi.org/10.17169/refubium-11839.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Falahkohan S. Retrograde scientometric analysis of the scientific role of Cystic Fibrosis. [Thesis]. Freie Universität Berlin; 2011. Available from: http://dx.doi.org/10.17169/refubium-11839

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation


Freie Universität Berlin

24. Hoffer, Julia Leonie. moleculargenetic investigations on two autosomal recessive disorders.

Degree: 2016, Freie Universität Berlin

 This thesis focuses on the investigation and comparison of a non-syndromic and a syndromic genetic disorder, which both are of autosomal recessive inheritance: non-syndromic intellectual… (more)

Subjects/Keywords: intellectual disability; cranioectodermal dysplasia; autosomal recessive disorder; 600 Technik, Medizin, angewandte Wissenschaften::610 Medizin und Gesundheit

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6th Edition):

Hoffer, J. L. (2016). moleculargenetic investigations on two autosomal recessive disorders. (Thesis). Freie Universität Berlin. Retrieved from http://dx.doi.org/10.17169/refubium-4960

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16th Edition):

Hoffer, Julia Leonie. “moleculargenetic investigations on two autosomal recessive disorders.” 2016. Thesis, Freie Universität Berlin. Accessed March 08, 2021. http://dx.doi.org/10.17169/refubium-4960.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7th Edition):

Hoffer, Julia Leonie. “moleculargenetic investigations on two autosomal recessive disorders.” 2016. Web. 08 Mar 2021.

Vancouver:

Hoffer JL. moleculargenetic investigations on two autosomal recessive disorders. [Internet] [Thesis]. Freie Universität Berlin; 2016. [cited 2021 Mar 08]. Available from: http://dx.doi.org/10.17169/refubium-4960.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Hoffer JL. moleculargenetic investigations on two autosomal recessive disorders. [Thesis]. Freie Universität Berlin; 2016. Available from: http://dx.doi.org/10.17169/refubium-4960

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation


National University of Ireland – Galway

25. Aied, Ahmed. Design and development of polymeric transfection vectors for gene delivery in Recessive Dystrophic Epidermolysis Bullosa .

Degree: 2014, National University of Ireland – Galway

Recessive Dystrophic Epidermolysis Bullosa (RDEB) is caused by mutations in the collagen VII gene (COL7A1) that lead to an alteration of function or a reduction… (more)

Subjects/Keywords: Transfection; Collagen VII; Recessive Dystrophic Epidermolysis Bullosa; Gene therapy; Polymer synthesis; Cationic polymers; Wound healing; Network of Excellence for Functional Biomaterials

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6th Edition):

Aied, A. (2014). Design and development of polymeric transfection vectors for gene delivery in Recessive Dystrophic Epidermolysis Bullosa . (Thesis). National University of Ireland – Galway. Retrieved from http://hdl.handle.net/10379/4569

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16th Edition):

Aied, Ahmed. “Design and development of polymeric transfection vectors for gene delivery in Recessive Dystrophic Epidermolysis Bullosa .” 2014. Thesis, National University of Ireland – Galway. Accessed March 08, 2021. http://hdl.handle.net/10379/4569.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7th Edition):

Aied, Ahmed. “Design and development of polymeric transfection vectors for gene delivery in Recessive Dystrophic Epidermolysis Bullosa .” 2014. Web. 08 Mar 2021.

Vancouver:

Aied A. Design and development of polymeric transfection vectors for gene delivery in Recessive Dystrophic Epidermolysis Bullosa . [Internet] [Thesis]. National University of Ireland – Galway; 2014. [cited 2021 Mar 08]. Available from: http://hdl.handle.net/10379/4569.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Aied A. Design and development of polymeric transfection vectors for gene delivery in Recessive Dystrophic Epidermolysis Bullosa . [Thesis]. National University of Ireland – Galway; 2014. Available from: http://hdl.handle.net/10379/4569

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

26. Uddin, Md Mesbah. Identification of causal factors for recessive lethals in dairy cattle with special focus on large chromosomal deletions : Etude de délétions chromosomiques et de variants génétiques responsables de mortalité embryonnaire chez les bovins laitiers.

Degree: Docteur es, Génétique animale, 2019, Paris, Institut agronomique, vétérinaire et forestier de France; Aarhus universitet (Danemark)

 L'objectif général de cette thèse est d'identifier les variants causaux ou, à défaut, un ensemble de marqueurs prédictifs - qui présentent un déséquilibre de liaison… (more)

Subjects/Keywords: Mortalité embryonnaire; Variations structurales; Bovins laitiers; Sélection génomique; Recessive lethal; Structural variants; Dairy cattle; Genomic prediction; 636.0821

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APA (6th Edition):

Uddin, M. M. (2019). Identification of causal factors for recessive lethals in dairy cattle with special focus on large chromosomal deletions : Etude de délétions chromosomiques et de variants génétiques responsables de mortalité embryonnaire chez les bovins laitiers. (Doctoral Dissertation). Paris, Institut agronomique, vétérinaire et forestier de France; Aarhus universitet (Danemark). Retrieved from http://www.theses.fr/2019IAVF0018

Chicago Manual of Style (16th Edition):

Uddin, Md Mesbah. “Identification of causal factors for recessive lethals in dairy cattle with special focus on large chromosomal deletions : Etude de délétions chromosomiques et de variants génétiques responsables de mortalité embryonnaire chez les bovins laitiers.” 2019. Doctoral Dissertation, Paris, Institut agronomique, vétérinaire et forestier de France; Aarhus universitet (Danemark). Accessed March 08, 2021. http://www.theses.fr/2019IAVF0018.

MLA Handbook (7th Edition):

Uddin, Md Mesbah. “Identification of causal factors for recessive lethals in dairy cattle with special focus on large chromosomal deletions : Etude de délétions chromosomiques et de variants génétiques responsables de mortalité embryonnaire chez les bovins laitiers.” 2019. Web. 08 Mar 2021.

Vancouver:

Uddin MM. Identification of causal factors for recessive lethals in dairy cattle with special focus on large chromosomal deletions : Etude de délétions chromosomiques et de variants génétiques responsables de mortalité embryonnaire chez les bovins laitiers. [Internet] [Doctoral dissertation]. Paris, Institut agronomique, vétérinaire et forestier de France; Aarhus universitet (Danemark); 2019. [cited 2021 Mar 08]. Available from: http://www.theses.fr/2019IAVF0018.

Council of Science Editors:

Uddin MM. Identification of causal factors for recessive lethals in dairy cattle with special focus on large chromosomal deletions : Etude de délétions chromosomiques et de variants génétiques responsables de mortalité embryonnaire chez les bovins laitiers. [Doctoral Dissertation]. Paris, Institut agronomique, vétérinaire et forestier de France; Aarhus universitet (Danemark); 2019. Available from: http://www.theses.fr/2019IAVF0018


University of Minnesota

27. Lee, Catherine. Applications of Next-Generation Sequencing to Rare Disease.

Degree: PhD, Molecular, Cellular, Developmental Biology and Genetics, 2018, University of Minnesota

 Since the discovery of the structure of DNA in 1953, researchers and clinicians have been painstakingly paving the way for the use of genetic information… (more)

Subjects/Keywords: Adrenoleukodystrophy; Brain Microvascular Endothelial Cells; Rare Disease; Recessive Dystrophic Epidermolysis Bullosa; Revertant Mosaicism; Single-cell RNA-seq

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6th Edition):

Lee, C. (2018). Applications of Next-Generation Sequencing to Rare Disease. (Doctoral Dissertation). University of Minnesota. Retrieved from http://hdl.handle.net/11299/200310

Chicago Manual of Style (16th Edition):

Lee, Catherine. “Applications of Next-Generation Sequencing to Rare Disease.” 2018. Doctoral Dissertation, University of Minnesota. Accessed March 08, 2021. http://hdl.handle.net/11299/200310.

MLA Handbook (7th Edition):

Lee, Catherine. “Applications of Next-Generation Sequencing to Rare Disease.” 2018. Web. 08 Mar 2021.

Vancouver:

Lee C. Applications of Next-Generation Sequencing to Rare Disease. [Internet] [Doctoral dissertation]. University of Minnesota; 2018. [cited 2021 Mar 08]. Available from: http://hdl.handle.net/11299/200310.

Council of Science Editors:

Lee C. Applications of Next-Generation Sequencing to Rare Disease. [Doctoral Dissertation]. University of Minnesota; 2018. Available from: http://hdl.handle.net/11299/200310

28. Olteanu, Dragos S. Dysregulated ENAC and NHE function in cilium-deficient renal collecting duct cell monolayers : a model of polycystic kidney disease.

Degree: PhD, 2007, University of Alabama – Birmingham

Polycystic kidney disease in both its recessive and dominant forms involves the remodeling of the kidney and extra-renal tissues where parts of the tissue break… (more)

Subjects/Keywords: Cilia  – metabolism<; br>; Epithelial Cells<; br>; Kidney<; br>; Polycystic Kidney, Autosomal Recessive  – metabolism<; br>; Sodium  – metabolism<; br>; Sodium Channels  – metabolism

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6th Edition):

Olteanu, D. S. (2007). Dysregulated ENAC and NHE function in cilium-deficient renal collecting duct cell monolayers : a model of polycystic kidney disease. (Doctoral Dissertation). University of Alabama – Birmingham. Retrieved from http://contentdm.mhsl.uab.edu/u?/etd,610

Chicago Manual of Style (16th Edition):

Olteanu, Dragos S. “Dysregulated ENAC and NHE function in cilium-deficient renal collecting duct cell monolayers : a model of polycystic kidney disease.” 2007. Doctoral Dissertation, University of Alabama – Birmingham. Accessed March 08, 2021. http://contentdm.mhsl.uab.edu/u?/etd,610.

MLA Handbook (7th Edition):

Olteanu, Dragos S. “Dysregulated ENAC and NHE function in cilium-deficient renal collecting duct cell monolayers : a model of polycystic kidney disease.” 2007. Web. 08 Mar 2021.

Vancouver:

Olteanu DS. Dysregulated ENAC and NHE function in cilium-deficient renal collecting duct cell monolayers : a model of polycystic kidney disease. [Internet] [Doctoral dissertation]. University of Alabama – Birmingham; 2007. [cited 2021 Mar 08]. Available from: http://contentdm.mhsl.uab.edu/u?/etd,610.

Council of Science Editors:

Olteanu DS. Dysregulated ENAC and NHE function in cilium-deficient renal collecting duct cell monolayers : a model of polycystic kidney disease. [Doctoral Dissertation]. University of Alabama – Birmingham; 2007. Available from: http://contentdm.mhsl.uab.edu/u?/etd,610


University of Oulu

29. Majava, M. (Marja). Molecular genetics of Stickler and Marshall syndromes, and the role of collagen II and other candidate proteins in high myopia and impaired hearing.

Degree: 2007, University of Oulu

 Abstract Stickler and Marshall syndromes are genetic disorders both inherited in an autosomal dominant manner. The genotype-phenotype correlation was performed in ten Stickler/Marshall syndrome patients… (more)

Subjects/Keywords: Stickler syndrome; autosomal recessive nonsyndromic hearing loss; high myopia; predominantly ocular variant

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6th Edition):

Majava, M. (. (2007). Molecular genetics of Stickler and Marshall syndromes, and the role of collagen II and other candidate proteins in high myopia and impaired hearing. (Doctoral Dissertation). University of Oulu. Retrieved from http://urn.fi/urn:isbn:9789514283628

Chicago Manual of Style (16th Edition):

Majava, M (Marja). “Molecular genetics of Stickler and Marshall syndromes, and the role of collagen II and other candidate proteins in high myopia and impaired hearing.” 2007. Doctoral Dissertation, University of Oulu. Accessed March 08, 2021. http://urn.fi/urn:isbn:9789514283628.

MLA Handbook (7th Edition):

Majava, M (Marja). “Molecular genetics of Stickler and Marshall syndromes, and the role of collagen II and other candidate proteins in high myopia and impaired hearing.” 2007. Web. 08 Mar 2021.

Vancouver:

Majava M(. Molecular genetics of Stickler and Marshall syndromes, and the role of collagen II and other candidate proteins in high myopia and impaired hearing. [Internet] [Doctoral dissertation]. University of Oulu; 2007. [cited 2021 Mar 08]. Available from: http://urn.fi/urn:isbn:9789514283628.

Council of Science Editors:

Majava M(. Molecular genetics of Stickler and Marshall syndromes, and the role of collagen II and other candidate proteins in high myopia and impaired hearing. [Doctoral Dissertation]. University of Oulu; 2007. Available from: http://urn.fi/urn:isbn:9789514283628

30. Ντάϊου, Χρύσα. Μαζικός γενετικός έλεγχος σε διαφορετικές ομάδες πληθυσμού στην ευρύτερη περιοχή της Θεσσαλίας με σκοπό την ανίχνευση του ποσοστού των φορέων της ασθένειας Friedreich's ataxia.

Degree: 2011, University of Thessaly (UTH); Πανεπιστήμιο Θεσσαλίας

Autosomal Recessive Cerebellar Ataxias (ARCA) encompass a large number of rare neurological disorders characterized by early onset, cerebellar ataxia and autosomal recessive inheritance. The commonest… (more)

Subjects/Keywords: Αυτοσωμική υπολειπόμενη κληρονόμηση; Μετάλλαξη; Τριπλέττα GAA; Οπτικοκινητική απραξία; Νωτιαιοπαρεγκεφαλιδική αταξία; Συχνότητα; Φορέας; Αλληλούχιση; Autosomal recessive inheritance; Mutation; GAA repeat; Oculomotor apraxia; Cerebellar ataxia; Frequency; Carrier; Sequencing analysis

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6th Edition):

Ντάϊου, . . (2011). Μαζικός γενετικός έλεγχος σε διαφορετικές ομάδες πληθυσμού στην ευρύτερη περιοχή της Θεσσαλίας με σκοπό την ανίχνευση του ποσοστού των φορέων της ασθένειας Friedreich's ataxia. (Thesis). University of Thessaly (UTH); Πανεπιστήμιο Θεσσαλίας. Retrieved from http://hdl.handle.net/10442/hedi/25027

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16th Edition):

Ντάϊου, Χρύσα. “Μαζικός γενετικός έλεγχος σε διαφορετικές ομάδες πληθυσμού στην ευρύτερη περιοχή της Θεσσαλίας με σκοπό την ανίχνευση του ποσοστού των φορέων της ασθένειας Friedreich's ataxia.” 2011. Thesis, University of Thessaly (UTH); Πανεπιστήμιο Θεσσαλίας. Accessed March 08, 2021. http://hdl.handle.net/10442/hedi/25027.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7th Edition):

Ντάϊου, Χρύσα. “Μαζικός γενετικός έλεγχος σε διαφορετικές ομάδες πληθυσμού στην ευρύτερη περιοχή της Θεσσαλίας με σκοπό την ανίχνευση του ποσοστού των φορέων της ασθένειας Friedreich's ataxia.” 2011. Web. 08 Mar 2021.

Vancouver:

Ντάϊου . Μαζικός γενετικός έλεγχος σε διαφορετικές ομάδες πληθυσμού στην ευρύτερη περιοχή της Θεσσαλίας με σκοπό την ανίχνευση του ποσοστού των φορέων της ασθένειας Friedreich's ataxia. [Internet] [Thesis]. University of Thessaly (UTH); Πανεπιστήμιο Θεσσαλίας; 2011. [cited 2021 Mar 08]. Available from: http://hdl.handle.net/10442/hedi/25027.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Ντάϊου . Μαζικός γενετικός έλεγχος σε διαφορετικές ομάδες πληθυσμού στην ευρύτερη περιοχή της Θεσσαλίας με σκοπό την ανίχνευση του ποσοστού των φορέων της ασθένειας Friedreich's ataxia. [Thesis]. University of Thessaly (UTH); Πανεπιστήμιο Θεσσαλίας; 2011. Available from: http://hdl.handle.net/10442/hedi/25027

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

[1] [2] [3]

.