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You searched for subject:(exome sequencing). Showing records 1 – 30 of 246 total matches.

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1. Carswell, Shaun. Exome sequence analysis of siblings affected with Niemann-Pick type C disease.

Degree: 2017, Victoria University of Wellington; Victoria University of Wellington

 Mutations in either the Niemann-Pick type C1 or C2 (NPC1/NPC2) gene result in a fatal lysosomal storage disorder, Niemann-Pick type C (NP-C) disease, for which… (more)

Subjects/Keywords: Niemann-Pick; Exome; Sequencing; Bioinformatics

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APA (6th Edition):

Carswell, S. (2017). Exome sequence analysis of siblings affected with Niemann-Pick type C disease. (Masters Thesis). Victoria University of Wellington; Victoria University of Wellington. Retrieved from http://hdl.handle.net/10063/9391

Chicago Manual of Style (16th Edition):

Carswell, Shaun. “Exome sequence analysis of siblings affected with Niemann-Pick type C disease.” 2017. Masters Thesis, Victoria University of Wellington; Victoria University of Wellington. Accessed April 14, 2021. http://hdl.handle.net/10063/9391.

MLA Handbook (7th Edition):

Carswell, Shaun. “Exome sequence analysis of siblings affected with Niemann-Pick type C disease.” 2017. Web. 14 Apr 2021.

Vancouver:

Carswell S. Exome sequence analysis of siblings affected with Niemann-Pick type C disease. [Internet] [Masters thesis]. Victoria University of Wellington; Victoria University of Wellington; 2017. [cited 2021 Apr 14]. Available from: http://hdl.handle.net/10063/9391.

Council of Science Editors:

Carswell S. Exome sequence analysis of siblings affected with Niemann-Pick type C disease. [Masters Thesis]. Victoria University of Wellington; Victoria University of Wellington; 2017. Available from: http://hdl.handle.net/10063/9391


University of Cincinnati

2. Tolusso, Leandra K. Parental understanding of whole exome sequencing: A comparison of perceived and actual understanding.

Degree: MS, Medicine: Genetic Counseling, 2016, University of Cincinnati

 Whole exome sequencing (WES), a genetic test that sequences the protein-coding DNA, is an integral tool in the diagnosis of suspected genetic conditions in pediatric… (more)

Subjects/Keywords: Genetics; Whole exome sequencing; Informed consent; Exome; Secondary findings; Incidental findings

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APA (6th Edition):

Tolusso, L. K. (2016). Parental understanding of whole exome sequencing: A comparison of perceived and actual understanding. (Masters Thesis). University of Cincinnati. Retrieved from http://rave.ohiolink.edu/etdc/view?acc_num=ucin1458814771

Chicago Manual of Style (16th Edition):

Tolusso, Leandra K. “Parental understanding of whole exome sequencing: A comparison of perceived and actual understanding.” 2016. Masters Thesis, University of Cincinnati. Accessed April 14, 2021. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1458814771.

MLA Handbook (7th Edition):

Tolusso, Leandra K. “Parental understanding of whole exome sequencing: A comparison of perceived and actual understanding.” 2016. Web. 14 Apr 2021.

Vancouver:

Tolusso LK. Parental understanding of whole exome sequencing: A comparison of perceived and actual understanding. [Internet] [Masters thesis]. University of Cincinnati; 2016. [cited 2021 Apr 14]. Available from: http://rave.ohiolink.edu/etdc/view?acc_num=ucin1458814771.

Council of Science Editors:

Tolusso LK. Parental understanding of whole exome sequencing: A comparison of perceived and actual understanding. [Masters Thesis]. University of Cincinnati; 2016. Available from: http://rave.ohiolink.edu/etdc/view?acc_num=ucin1458814771


University of Toronto

3. Kanji, Zaheer Shamshudin. Somatic Copy Number Aberrations in Familial Pancreatic Cancer: Integrative Genomics and Gene Discovery.

Degree: 2013, University of Toronto

Familial Pancreatic Cancer (FPC) is an autosomal dominant condition with greater then 80% of genetic causes unknown. We hypothesize that an integrative approach employing germline… (more)

Subjects/Keywords: Cancer; Pancreatic; CNV; Genomics; Exome; Sequencing; 0564

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APA (6th Edition):

Kanji, Z. S. (2013). Somatic Copy Number Aberrations in Familial Pancreatic Cancer: Integrative Genomics and Gene Discovery. (Masters Thesis). University of Toronto. Retrieved from http://hdl.handle.net/1807/42995

Chicago Manual of Style (16th Edition):

Kanji, Zaheer Shamshudin. “Somatic Copy Number Aberrations in Familial Pancreatic Cancer: Integrative Genomics and Gene Discovery.” 2013. Masters Thesis, University of Toronto. Accessed April 14, 2021. http://hdl.handle.net/1807/42995.

MLA Handbook (7th Edition):

Kanji, Zaheer Shamshudin. “Somatic Copy Number Aberrations in Familial Pancreatic Cancer: Integrative Genomics and Gene Discovery.” 2013. Web. 14 Apr 2021.

Vancouver:

Kanji ZS. Somatic Copy Number Aberrations in Familial Pancreatic Cancer: Integrative Genomics and Gene Discovery. [Internet] [Masters thesis]. University of Toronto; 2013. [cited 2021 Apr 14]. Available from: http://hdl.handle.net/1807/42995.

Council of Science Editors:

Kanji ZS. Somatic Copy Number Aberrations in Familial Pancreatic Cancer: Integrative Genomics and Gene Discovery. [Masters Thesis]. University of Toronto; 2013. Available from: http://hdl.handle.net/1807/42995


University of Toronto

4. Rajendram, Rageen. Identification of Causal Rare Variants in an Extended Pedigree with Obsessive-compulsive Disorder.

Degree: 2014, University of Toronto

Obsessive-Compulsive Disorder (OCD) is a common, heritable and etiologically heterogeneous neuropsychiatric disorder. Despite twin and family studies supporting genetic determinants in OCD, the discovery of… (more)

Subjects/Keywords: Exome; Genetics; Linkage; OCD; Sequencing; 0369

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APA (6th Edition):

Rajendram, R. (2014). Identification of Causal Rare Variants in an Extended Pedigree with Obsessive-compulsive Disorder. (Masters Thesis). University of Toronto. Retrieved from http://hdl.handle.net/1807/68833

Chicago Manual of Style (16th Edition):

Rajendram, Rageen. “Identification of Causal Rare Variants in an Extended Pedigree with Obsessive-compulsive Disorder.” 2014. Masters Thesis, University of Toronto. Accessed April 14, 2021. http://hdl.handle.net/1807/68833.

MLA Handbook (7th Edition):

Rajendram, Rageen. “Identification of Causal Rare Variants in an Extended Pedigree with Obsessive-compulsive Disorder.” 2014. Web. 14 Apr 2021.

Vancouver:

Rajendram R. Identification of Causal Rare Variants in an Extended Pedigree with Obsessive-compulsive Disorder. [Internet] [Masters thesis]. University of Toronto; 2014. [cited 2021 Apr 14]. Available from: http://hdl.handle.net/1807/68833.

Council of Science Editors:

Rajendram R. Identification of Causal Rare Variants in an Extended Pedigree with Obsessive-compulsive Disorder. [Masters Thesis]. University of Toronto; 2014. Available from: http://hdl.handle.net/1807/68833


KTH

5. Andeer, Robin. Coverage analysis and visualization in clinical exome sequencing.

Degree: Biotechnology (BIO), 2013, KTH

  Motivation: The advent of clinical exome sequencing will require new tools to handlecoverage data and making it relevant to clinicians. That means genes over… (more)

Subjects/Keywords: Exome; clinical sequencing; software; GC content

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APA (6th Edition):

Andeer, R. (2013). Coverage analysis and visualization in clinical exome sequencing. (Thesis). KTH. Retrieved from http://urn.kb.se/resolve?urn=urn:nbn:se:kth:diva-149941

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):

Andeer, Robin. “Coverage analysis and visualization in clinical exome sequencing.” 2013. Thesis, KTH. Accessed April 14, 2021. http://urn.kb.se/resolve?urn=urn:nbn:se:kth:diva-149941.

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

MLA Handbook (7th Edition):

Andeer, Robin. “Coverage analysis and visualization in clinical exome sequencing.” 2013. Web. 14 Apr 2021.

Vancouver:

Andeer R. Coverage analysis and visualization in clinical exome sequencing. [Internet] [Thesis]. KTH; 2013. [cited 2021 Apr 14]. Available from: http://urn.kb.se/resolve?urn=urn:nbn:se:kth:diva-149941.

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

Council of Science Editors:

Andeer R. Coverage analysis and visualization in clinical exome sequencing. [Thesis]. KTH; 2013. Available from: http://urn.kb.se/resolve?urn=urn:nbn:se:kth:diva-149941

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

6. HUANG KIE KYON. CLINICAL APPLICATION OF CANCER EXOME SEQUENCING.

Degree: 2016, National University of Singapore

Subjects/Keywords: exome sequencing; biomarker

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APA (6th Edition):

KYON, H. K. (2016). CLINICAL APPLICATION OF CANCER EXOME SEQUENCING. (Thesis). National University of Singapore. Retrieved from http://scholarbank.nus.edu.sg/handle/10635/135189

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):

KYON, HUANG KIE. “CLINICAL APPLICATION OF CANCER EXOME SEQUENCING.” 2016. Thesis, National University of Singapore. Accessed April 14, 2021. http://scholarbank.nus.edu.sg/handle/10635/135189.

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

MLA Handbook (7th Edition):

KYON, HUANG KIE. “CLINICAL APPLICATION OF CANCER EXOME SEQUENCING.” 2016. Web. 14 Apr 2021.

Vancouver:

KYON HK. CLINICAL APPLICATION OF CANCER EXOME SEQUENCING. [Internet] [Thesis]. National University of Singapore; 2016. [cited 2021 Apr 14]. Available from: http://scholarbank.nus.edu.sg/handle/10635/135189.

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

Council of Science Editors:

KYON HK. CLINICAL APPLICATION OF CANCER EXOME SEQUENCING. [Thesis]. National University of Singapore; 2016. Available from: http://scholarbank.nus.edu.sg/handle/10635/135189

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


University of Iowa

7. Cox, Allison Jeanne. Whole exome analysis of individuals and families with chronic recurrent multifocal osteomyelitis (CRMO).

Degree: PhD, Genetics, 2016, University of Iowa

  Chronic recurrent multifocal osteomyelitis (CRMO) is a rare, pediatric, autoinflammatory disease characterized by bone pain due to sterile osteomyelitis, and is often accompanied by… (more)

Subjects/Keywords: bone; inflammation; whole exome sequencing; Genetics

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APA (6th Edition):

Cox, A. J. (2016). Whole exome analysis of individuals and families with chronic recurrent multifocal osteomyelitis (CRMO). (Doctoral Dissertation). University of Iowa. Retrieved from https://ir.uiowa.edu/etd/2199

Chicago Manual of Style (16th Edition):

Cox, Allison Jeanne. “Whole exome analysis of individuals and families with chronic recurrent multifocal osteomyelitis (CRMO).” 2016. Doctoral Dissertation, University of Iowa. Accessed April 14, 2021. https://ir.uiowa.edu/etd/2199.

MLA Handbook (7th Edition):

Cox, Allison Jeanne. “Whole exome analysis of individuals and families with chronic recurrent multifocal osteomyelitis (CRMO).” 2016. Web. 14 Apr 2021.

Vancouver:

Cox AJ. Whole exome analysis of individuals and families with chronic recurrent multifocal osteomyelitis (CRMO). [Internet] [Doctoral dissertation]. University of Iowa; 2016. [cited 2021 Apr 14]. Available from: https://ir.uiowa.edu/etd/2199.

Council of Science Editors:

Cox AJ. Whole exome analysis of individuals and families with chronic recurrent multifocal osteomyelitis (CRMO). [Doctoral Dissertation]. University of Iowa; 2016. Available from: https://ir.uiowa.edu/etd/2199


University of Helsinki

8. Hinterding, Helena. Novel disease genes for childhood-onset cardiomyopathy.

Degree: Medicinska fakulteten, 2018, University of Helsinki

 Early-onset cardiomyopathies (CMPs) are disorders that bring a heavy burden for families as they often lead to early death among children. CMP may be defined… (more)

Subjects/Keywords: Cardiomyopathy; whole-exome sequencing; TMOD1; NRAP; PGM5; Cardiomyopathy; whole-exome sequencing; TMOD1; NRAP; PGM5

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APA (6th Edition):

Hinterding, H. (2018). Novel disease genes for childhood-onset cardiomyopathy. (Masters Thesis). University of Helsinki. Retrieved from http://hdl.handle.net/10138/236385

Chicago Manual of Style (16th Edition):

Hinterding, Helena. “Novel disease genes for childhood-onset cardiomyopathy.” 2018. Masters Thesis, University of Helsinki. Accessed April 14, 2021. http://hdl.handle.net/10138/236385.

MLA Handbook (7th Edition):

Hinterding, Helena. “Novel disease genes for childhood-onset cardiomyopathy.” 2018. Web. 14 Apr 2021.

Vancouver:

Hinterding H. Novel disease genes for childhood-onset cardiomyopathy. [Internet] [Masters thesis]. University of Helsinki; 2018. [cited 2021 Apr 14]. Available from: http://hdl.handle.net/10138/236385.

Council of Science Editors:

Hinterding H. Novel disease genes for childhood-onset cardiomyopathy. [Masters Thesis]. University of Helsinki; 2018. Available from: http://hdl.handle.net/10138/236385


Boston University

9. Dougherty, Kristen Elizabeth. Evaluation of Next-Generation Sequencing as a clinical and research modality in the diagnosis of hereditary breast cancer.

Degree: MS, Medical Sciences, 2015, Boston University

 Next-Generation Sequencing has opened the doors to nearly limitless amounts of genomic data, but the clinical utility of this data is not yet clear. From… (more)

Subjects/Keywords: Genetics; Breast cancer; Hereditary cancer; Whole exome sequencing; Next generation sequencing

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APA (6th Edition):

Dougherty, K. E. (2015). Evaluation of Next-Generation Sequencing as a clinical and research modality in the diagnosis of hereditary breast cancer. (Masters Thesis). Boston University. Retrieved from http://hdl.handle.net/2144/16120

Chicago Manual of Style (16th Edition):

Dougherty, Kristen Elizabeth. “Evaluation of Next-Generation Sequencing as a clinical and research modality in the diagnosis of hereditary breast cancer.” 2015. Masters Thesis, Boston University. Accessed April 14, 2021. http://hdl.handle.net/2144/16120.

MLA Handbook (7th Edition):

Dougherty, Kristen Elizabeth. “Evaluation of Next-Generation Sequencing as a clinical and research modality in the diagnosis of hereditary breast cancer.” 2015. Web. 14 Apr 2021.

Vancouver:

Dougherty KE. Evaluation of Next-Generation Sequencing as a clinical and research modality in the diagnosis of hereditary breast cancer. [Internet] [Masters thesis]. Boston University; 2015. [cited 2021 Apr 14]. Available from: http://hdl.handle.net/2144/16120.

Council of Science Editors:

Dougherty KE. Evaluation of Next-Generation Sequencing as a clinical and research modality in the diagnosis of hereditary breast cancer. [Masters Thesis]. Boston University; 2015. Available from: http://hdl.handle.net/2144/16120


Harvard University

10. Xu, Liwen. Targeted Next Generation Sequencing Approach Towards Improving Genetic Diagnosis of Limb Girdle Muscular Dystrophy.

Degree: Doctor of Medicine, 2018, Harvard University

Limb-girdle muscular dystrophies (LGMDs) are a heterogeneous group of rare muscle disorders in which progressive skeletal muscle weakness and wasting affect primarily the shoulders, hips… (more)

Subjects/Keywords: Limb Girdle Muscular Dystrophies; Next Generation Sequencing; Whole Exome Sequencing

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APA (6th Edition):

Xu, L. (2018). Targeted Next Generation Sequencing Approach Towards Improving Genetic Diagnosis of Limb Girdle Muscular Dystrophy. (Doctoral Dissertation). Harvard University. Retrieved from http://nrs.harvard.edu/urn-3:HUL.InstRepos:41973492

Chicago Manual of Style (16th Edition):

Xu, Liwen. “Targeted Next Generation Sequencing Approach Towards Improving Genetic Diagnosis of Limb Girdle Muscular Dystrophy.” 2018. Doctoral Dissertation, Harvard University. Accessed April 14, 2021. http://nrs.harvard.edu/urn-3:HUL.InstRepos:41973492.

MLA Handbook (7th Edition):

Xu, Liwen. “Targeted Next Generation Sequencing Approach Towards Improving Genetic Diagnosis of Limb Girdle Muscular Dystrophy.” 2018. Web. 14 Apr 2021.

Vancouver:

Xu L. Targeted Next Generation Sequencing Approach Towards Improving Genetic Diagnosis of Limb Girdle Muscular Dystrophy. [Internet] [Doctoral dissertation]. Harvard University; 2018. [cited 2021 Apr 14]. Available from: http://nrs.harvard.edu/urn-3:HUL.InstRepos:41973492.

Council of Science Editors:

Xu L. Targeted Next Generation Sequencing Approach Towards Improving Genetic Diagnosis of Limb Girdle Muscular Dystrophy. [Doctoral Dissertation]. Harvard University; 2018. Available from: http://nrs.harvard.edu/urn-3:HUL.InstRepos:41973492


Washington University in St. Louis

11. Bailey, Matthew Hawkins. A tail of two PanCancer projects: Somatic variant identification and driver gene discovery using TCGA.

Degree: PhD, Biology & Biomedical Sciences (Human & Statistical Genetics), 2018, Washington University in St. Louis

  The implementation of next-generation genomic sequencing has exploded over the past dozen years. Large consortia, such as The Cancer Genome Atlas (TCGA); the International… (more)

Subjects/Keywords: Genomics, PanCancer, Whole exome sequencing, Whole genome sequencing; Bioinformatics; Genetics; Oncology

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APA (6th Edition):

Bailey, M. H. (2018). A tail of two PanCancer projects: Somatic variant identification and driver gene discovery using TCGA. (Doctoral Dissertation). Washington University in St. Louis. Retrieved from https://openscholarship.wustl.edu/art_sci_etds/1691

Chicago Manual of Style (16th Edition):

Bailey, Matthew Hawkins. “A tail of two PanCancer projects: Somatic variant identification and driver gene discovery using TCGA.” 2018. Doctoral Dissertation, Washington University in St. Louis. Accessed April 14, 2021. https://openscholarship.wustl.edu/art_sci_etds/1691.

MLA Handbook (7th Edition):

Bailey, Matthew Hawkins. “A tail of two PanCancer projects: Somatic variant identification and driver gene discovery using TCGA.” 2018. Web. 14 Apr 2021.

Vancouver:

Bailey MH. A tail of two PanCancer projects: Somatic variant identification and driver gene discovery using TCGA. [Internet] [Doctoral dissertation]. Washington University in St. Louis; 2018. [cited 2021 Apr 14]. Available from: https://openscholarship.wustl.edu/art_sci_etds/1691.

Council of Science Editors:

Bailey MH. A tail of two PanCancer projects: Somatic variant identification and driver gene discovery using TCGA. [Doctoral Dissertation]. Washington University in St. Louis; 2018. Available from: https://openscholarship.wustl.edu/art_sci_etds/1691


Universidade Estadual de Campinas

12. Borges, Murilo Guimarães, 1989-. Metodologias em bioinformática aplicadas à análise de dados de sequenciamento de alto desempenho em genética médica.

Degree: Faculdade de Ciências Médicas; Programa de Pós-Graduação em Fisiopatologia Médica, 2019, Universidade Estadual de Campinas

Orientador: Iscia Teresinha Lopes Cendes

Tese (doutorado) - Universidade Estadual de Campinas, Faculdade de Ciências Médicas

Made available in DSpace on 2019-09-02T14:53:58Z (GMT). No. of… (more)

Subjects/Keywords: Bioinformática; Sequenciamento completo de exoma; Exoma; Herança multifatorial; Bioinformatics; Whole exome sequencing; Exome; Polygenic inheritance

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APA (6th Edition):

Borges, Murilo Guimarães, 1. (2019). Metodologias em bioinformática aplicadas à análise de dados de sequenciamento de alto desempenho em genética médica. (Doctoral Dissertation). Universidade Estadual de Campinas. Retrieved from http://repositorio.unicamp.br/jspui/handle/REPOSIP/334837

Chicago Manual of Style (16th Edition):

Borges, Murilo Guimarães, 1989-. “Metodologias em bioinformática aplicadas à análise de dados de sequenciamento de alto desempenho em genética médica.” 2019. Doctoral Dissertation, Universidade Estadual de Campinas. Accessed April 14, 2021. http://repositorio.unicamp.br/jspui/handle/REPOSIP/334837.

MLA Handbook (7th Edition):

Borges, Murilo Guimarães, 1989-. “Metodologias em bioinformática aplicadas à análise de dados de sequenciamento de alto desempenho em genética médica.” 2019. Web. 14 Apr 2021.

Vancouver:

Borges, Murilo Guimarães 1. Metodologias em bioinformática aplicadas à análise de dados de sequenciamento de alto desempenho em genética médica. [Internet] [Doctoral dissertation]. Universidade Estadual de Campinas; 2019. [cited 2021 Apr 14]. Available from: http://repositorio.unicamp.br/jspui/handle/REPOSIP/334837.

Council of Science Editors:

Borges, Murilo Guimarães 1. Metodologias em bioinformática aplicadas à análise de dados de sequenciamento de alto desempenho em genética médica. [Doctoral Dissertation]. Universidade Estadual de Campinas; 2019. Available from: http://repositorio.unicamp.br/jspui/handle/REPOSIP/334837


Queensland University of Technology

13. Maksemous, Neven. Development of high through-put neurogenetics diagnostics.

Degree: 2016, Queensland University of Technology

 This project was an effort to improve the speed and affordability of genetic testing for neurological disorders. The research involved the development of a genetic… (more)

Subjects/Keywords: Next generation sequencing; Familial hemiplegic migraine; Episodic Ataxia Type 2; CADASIL; Whole Exome Sequencing

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APA (6th Edition):

Maksemous, N. (2016). Development of high through-put neurogenetics diagnostics. (Thesis). Queensland University of Technology. Retrieved from http://eprints.qut.edu.au/101097/

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):

Maksemous, Neven. “Development of high through-put neurogenetics diagnostics.” 2016. Thesis, Queensland University of Technology. Accessed April 14, 2021. http://eprints.qut.edu.au/101097/.

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

MLA Handbook (7th Edition):

Maksemous, Neven. “Development of high through-put neurogenetics diagnostics.” 2016. Web. 14 Apr 2021.

Vancouver:

Maksemous N. Development of high through-put neurogenetics diagnostics. [Internet] [Thesis]. Queensland University of Technology; 2016. [cited 2021 Apr 14]. Available from: http://eprints.qut.edu.au/101097/.

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

Council of Science Editors:

Maksemous N. Development of high through-put neurogenetics diagnostics. [Thesis]. Queensland University of Technology; 2016. Available from: http://eprints.qut.edu.au/101097/

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


University of Ottawa

14. Wagner, Justin. Whole Exome Sequencing to Identify Disease-Causing Mutations in Lower Motor Neuron Disease and Peripheral Neuropathy .

Degree: 2016, University of Ottawa

 Lower motor neuron diseases and peripheral neuropathies are two groups of diseases that include multiple rare disorders where many causes are unknown and definitive treatments… (more)

Subjects/Keywords: Charcot-Marie-Tooth; Next Generation Sequencing; Whole-Exome Sequencing; Peripheral Neuropathy; Lower Motor Neuron Disease

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APA (6th Edition):

Wagner, J. (2016). Whole Exome Sequencing to Identify Disease-Causing Mutations in Lower Motor Neuron Disease and Peripheral Neuropathy . (Thesis). University of Ottawa. Retrieved from http://hdl.handle.net/10393/34124

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):

Wagner, Justin. “Whole Exome Sequencing to Identify Disease-Causing Mutations in Lower Motor Neuron Disease and Peripheral Neuropathy .” 2016. Thesis, University of Ottawa. Accessed April 14, 2021. http://hdl.handle.net/10393/34124.

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

MLA Handbook (7th Edition):

Wagner, Justin. “Whole Exome Sequencing to Identify Disease-Causing Mutations in Lower Motor Neuron Disease and Peripheral Neuropathy .” 2016. Web. 14 Apr 2021.

Vancouver:

Wagner J. Whole Exome Sequencing to Identify Disease-Causing Mutations in Lower Motor Neuron Disease and Peripheral Neuropathy . [Internet] [Thesis]. University of Ottawa; 2016. [cited 2021 Apr 14]. Available from: http://hdl.handle.net/10393/34124.

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

Council of Science Editors:

Wagner J. Whole Exome Sequencing to Identify Disease-Causing Mutations in Lower Motor Neuron Disease and Peripheral Neuropathy . [Thesis]. University of Ottawa; 2016. Available from: http://hdl.handle.net/10393/34124

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

15. G.E.M. Melloni. COMPUTATIONAL FRAMEWORKS FOR THE IDENTIFICATION OF SOMATIC AND GERMLINE VARIANTS CONTRIBUTING TO CANCER PREDISPOSITION AND DEVELOPMENT.

Degree: 2017, Università degli Studi di Milano

 The most recent cancer classification from NIH includes ~200 types of tumor that originates from several tissue types (http://www.cancer.gov/types). Although macroscopic and microscopic characteristics varies… (more)

Subjects/Keywords: Somatic Mutations; Germline Mutations; Next Generation Sequencing; Whole Exome Sequencing; Settore MED/04 - Patologia Generale

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APA (6th Edition):

Melloni, G. (2017). COMPUTATIONAL FRAMEWORKS FOR THE IDENTIFICATION OF SOMATIC AND GERMLINE VARIANTS CONTRIBUTING TO CANCER PREDISPOSITION AND DEVELOPMENT. (Thesis). Università degli Studi di Milano. Retrieved from http://hdl.handle.net/2434/462986

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):

Melloni, G.E.M.. “COMPUTATIONAL FRAMEWORKS FOR THE IDENTIFICATION OF SOMATIC AND GERMLINE VARIANTS CONTRIBUTING TO CANCER PREDISPOSITION AND DEVELOPMENT.” 2017. Thesis, Università degli Studi di Milano. Accessed April 14, 2021. http://hdl.handle.net/2434/462986.

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

MLA Handbook (7th Edition):

Melloni, G.E.M.. “COMPUTATIONAL FRAMEWORKS FOR THE IDENTIFICATION OF SOMATIC AND GERMLINE VARIANTS CONTRIBUTING TO CANCER PREDISPOSITION AND DEVELOPMENT.” 2017. Web. 14 Apr 2021.

Vancouver:

Melloni G. COMPUTATIONAL FRAMEWORKS FOR THE IDENTIFICATION OF SOMATIC AND GERMLINE VARIANTS CONTRIBUTING TO CANCER PREDISPOSITION AND DEVELOPMENT. [Internet] [Thesis]. Università degli Studi di Milano; 2017. [cited 2021 Apr 14]. Available from: http://hdl.handle.net/2434/462986.

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

Council of Science Editors:

Melloni G. COMPUTATIONAL FRAMEWORKS FOR THE IDENTIFICATION OF SOMATIC AND GERMLINE VARIANTS CONTRIBUTING TO CANCER PREDISPOSITION AND DEVELOPMENT. [Thesis]. Università degli Studi di Milano; 2017. Available from: http://hdl.handle.net/2434/462986

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


University of Sydney

16. Ghaoui, Roula. The application of whole exome sequencing for the diagnosis of limb-girdle muscular dystrophies .

Degree: 2016, University of Sydney

 The limb-girdle muscular dystrophies (LGMDs) are a heterogeneous group of inherited muscle disorders characterized by progressive weakness and wasting that primarily affects the proximal muscle… (more)

Subjects/Keywords: muscular dystrophy; myopathy; limb girdle; genetics; whole exome sequencing; next generation sequencing

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APA (6th Edition):

Ghaoui, R. (2016). The application of whole exome sequencing for the diagnosis of limb-girdle muscular dystrophies . (Thesis). University of Sydney. Retrieved from http://hdl.handle.net/2123/16358

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):

Ghaoui, Roula. “The application of whole exome sequencing for the diagnosis of limb-girdle muscular dystrophies .” 2016. Thesis, University of Sydney. Accessed April 14, 2021. http://hdl.handle.net/2123/16358.

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

MLA Handbook (7th Edition):

Ghaoui, Roula. “The application of whole exome sequencing for the diagnosis of limb-girdle muscular dystrophies .” 2016. Web. 14 Apr 2021.

Vancouver:

Ghaoui R. The application of whole exome sequencing for the diagnosis of limb-girdle muscular dystrophies . [Internet] [Thesis]. University of Sydney; 2016. [cited 2021 Apr 14]. Available from: http://hdl.handle.net/2123/16358.

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

Council of Science Editors:

Ghaoui R. The application of whole exome sequencing for the diagnosis of limb-girdle muscular dystrophies . [Thesis]. University of Sydney; 2016. Available from: http://hdl.handle.net/2123/16358

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


University of Sydney

17. O'Grady, Gina Louise. Improving the Diagnosis of Congenital Muscular Dystrophy with Next Generation Sequencing Technology .

Degree: 2016, University of Sydney

 The congenital muscular dystrophies (CMDs) are inherited disorders of skeletal muscle characterized by early onset muscle weakness and dystrophic changes on muscle biopsy. The traditional… (more)

Subjects/Keywords: Congenital muscular dystrophy; Congenital myopathy; Neuromuscular disease; Next generation sequencing; Whole exome sequencing

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

APA (6th Edition):

O'Grady, G. L. (2016). Improving the Diagnosis of Congenital Muscular Dystrophy with Next Generation Sequencing Technology . (Thesis). University of Sydney. Retrieved from http://hdl.handle.net/2123/16490

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):

O'Grady, Gina Louise. “Improving the Diagnosis of Congenital Muscular Dystrophy with Next Generation Sequencing Technology .” 2016. Thesis, University of Sydney. Accessed April 14, 2021. http://hdl.handle.net/2123/16490.

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

MLA Handbook (7th Edition):

O'Grady, Gina Louise. “Improving the Diagnosis of Congenital Muscular Dystrophy with Next Generation Sequencing Technology .” 2016. Web. 14 Apr 2021.

Vancouver:

O'Grady GL. Improving the Diagnosis of Congenital Muscular Dystrophy with Next Generation Sequencing Technology . [Internet] [Thesis]. University of Sydney; 2016. [cited 2021 Apr 14]. Available from: http://hdl.handle.net/2123/16490.

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

Council of Science Editors:

O'Grady GL. Improving the Diagnosis of Congenital Muscular Dystrophy with Next Generation Sequencing Technology . [Thesis]. University of Sydney; 2016. Available from: http://hdl.handle.net/2123/16490

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


UCLA

18. Gupta, Pritha. Translating Mouse Systems Genetics to Discovery in Human Disease.

Degree: Molec, Cell, & Integ Physiology, 2017, UCLA

 This dissertation is the culmination of my graduate studies in the laboratory of Jake Lusis at UCLA. The research presented here utilizes systems genetics studies… (more)

Subjects/Keywords: Genetics; Cardiovascular Disease; Exome Sequencing; Macrophage; Mouse Genetics

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

APA (6th Edition):

Gupta, P. (2017). Translating Mouse Systems Genetics to Discovery in Human Disease. (Thesis). UCLA. Retrieved from http://www.escholarship.org/uc/item/9g93k63j

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):

Gupta, Pritha. “Translating Mouse Systems Genetics to Discovery in Human Disease.” 2017. Thesis, UCLA. Accessed April 14, 2021. http://www.escholarship.org/uc/item/9g93k63j.

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

MLA Handbook (7th Edition):

Gupta, Pritha. “Translating Mouse Systems Genetics to Discovery in Human Disease.” 2017. Web. 14 Apr 2021.

Vancouver:

Gupta P. Translating Mouse Systems Genetics to Discovery in Human Disease. [Internet] [Thesis]. UCLA; 2017. [cited 2021 Apr 14]. Available from: http://www.escholarship.org/uc/item/9g93k63j.

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

Council of Science Editors:

Gupta P. Translating Mouse Systems Genetics to Discovery in Human Disease. [Thesis]. UCLA; 2017. Available from: http://www.escholarship.org/uc/item/9g93k63j

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


University of California – Irvine

19. Bevilacqua, Jennifer Ann. Exome Sequencing Reveals Gene Variants Involved in Methylation, Acetylation, and Chromatin Remodeling in Patients with Autism.

Degree: Genetic Counseling, 2014, University of California – Irvine

 Autism is a complex and both genetically and phenotypically heterogeneous neurodevelopmental condition. Some clear genetic causes have been identified but for most cases of autism… (more)

Subjects/Keywords: Genetics; autism; chromatin; epigenetics; exome sequencing; methylation; variant

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

APA (6th Edition):

Bevilacqua, J. A. (2014). Exome Sequencing Reveals Gene Variants Involved in Methylation, Acetylation, and Chromatin Remodeling in Patients with Autism. (Thesis). University of California – Irvine. Retrieved from http://www.escholarship.org/uc/item/4br5n3vx

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):

Bevilacqua, Jennifer Ann. “Exome Sequencing Reveals Gene Variants Involved in Methylation, Acetylation, and Chromatin Remodeling in Patients with Autism.” 2014. Thesis, University of California – Irvine. Accessed April 14, 2021. http://www.escholarship.org/uc/item/4br5n3vx.

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

MLA Handbook (7th Edition):

Bevilacqua, Jennifer Ann. “Exome Sequencing Reveals Gene Variants Involved in Methylation, Acetylation, and Chromatin Remodeling in Patients with Autism.” 2014. Web. 14 Apr 2021.

Vancouver:

Bevilacqua JA. Exome Sequencing Reveals Gene Variants Involved in Methylation, Acetylation, and Chromatin Remodeling in Patients with Autism. [Internet] [Thesis]. University of California – Irvine; 2014. [cited 2021 Apr 14]. Available from: http://www.escholarship.org/uc/item/4br5n3vx.

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

Council of Science Editors:

Bevilacqua JA. Exome Sequencing Reveals Gene Variants Involved in Methylation, Acetylation, and Chromatin Remodeling in Patients with Autism. [Thesis]. University of California – Irvine; 2014. Available from: http://www.escholarship.org/uc/item/4br5n3vx

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


Vanderbilt University

20. McElroy, Jude James. Genetics of spontaneous idiopathic preterm birth: exploration of maternal and fetal genomes.

Degree: PhD, Human Genetics, 2013, Vanderbilt University

 Preterm birth (PTB), defined as live birth before 37 weeks’ completed gestation, is the leading cause of infant mortality worldwide. Despite this major public health… (more)

Subjects/Keywords: birth weight; GWAS; exome sequencing; preterm birth; gestational age

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

APA (6th Edition):

McElroy, J. J. (2013). Genetics of spontaneous idiopathic preterm birth: exploration of maternal and fetal genomes. (Doctoral Dissertation). Vanderbilt University. Retrieved from http://hdl.handle.net/1803/12685

Chicago Manual of Style (16th Edition):

McElroy, Jude James. “Genetics of spontaneous idiopathic preterm birth: exploration of maternal and fetal genomes.” 2013. Doctoral Dissertation, Vanderbilt University. Accessed April 14, 2021. http://hdl.handle.net/1803/12685.

MLA Handbook (7th Edition):

McElroy, Jude James. “Genetics of spontaneous idiopathic preterm birth: exploration of maternal and fetal genomes.” 2013. Web. 14 Apr 2021.

Vancouver:

McElroy JJ. Genetics of spontaneous idiopathic preterm birth: exploration of maternal and fetal genomes. [Internet] [Doctoral dissertation]. Vanderbilt University; 2013. [cited 2021 Apr 14]. Available from: http://hdl.handle.net/1803/12685.

Council of Science Editors:

McElroy JJ. Genetics of spontaneous idiopathic preterm birth: exploration of maternal and fetal genomes. [Doctoral Dissertation]. Vanderbilt University; 2013. Available from: http://hdl.handle.net/1803/12685


Vanderbilt University

21. Jorge, Benjamin S. Genetic Variation in the Voltage-gated Potassium Channel Genes KCNV2 and KCNB1 Contributes to Epilepsy Susceptibility.

Degree: PhD, Neuroscience, 2014, Vanderbilt University

 Epilepsy is a common neurological disease characterized by an enduring predisposition to generate seizures. Although multiple factors contribute to epilepsy, the majority of cases are… (more)

Subjects/Keywords: potassium channel; epileptic encephalopathy; mouse model; genetics; whole-exome sequencing; epilepsy

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APA (6th Edition):

Jorge, B. S. (2014). Genetic Variation in the Voltage-gated Potassium Channel Genes KCNV2 and KCNB1 Contributes to Epilepsy Susceptibility. (Doctoral Dissertation). Vanderbilt University. Retrieved from http://hdl.handle.net/1803/14387

Chicago Manual of Style (16th Edition):

Jorge, Benjamin S. “Genetic Variation in the Voltage-gated Potassium Channel Genes KCNV2 and KCNB1 Contributes to Epilepsy Susceptibility.” 2014. Doctoral Dissertation, Vanderbilt University. Accessed April 14, 2021. http://hdl.handle.net/1803/14387.

MLA Handbook (7th Edition):

Jorge, Benjamin S. “Genetic Variation in the Voltage-gated Potassium Channel Genes KCNV2 and KCNB1 Contributes to Epilepsy Susceptibility.” 2014. Web. 14 Apr 2021.

Vancouver:

Jorge BS. Genetic Variation in the Voltage-gated Potassium Channel Genes KCNV2 and KCNB1 Contributes to Epilepsy Susceptibility. [Internet] [Doctoral dissertation]. Vanderbilt University; 2014. [cited 2021 Apr 14]. Available from: http://hdl.handle.net/1803/14387.

Council of Science Editors:

Jorge BS. Genetic Variation in the Voltage-gated Potassium Channel Genes KCNV2 and KCNB1 Contributes to Epilepsy Susceptibility. [Doctoral Dissertation]. Vanderbilt University; 2014. Available from: http://hdl.handle.net/1803/14387


Stellenbosch University

22. Drogemoller, Britt Ingrid. Investigation of genetic variation contributing to antipsychotic treatment response in a South African first episode schizophrenia cohort.

Degree: PhD, Biology and Human Genetics, 2013, Stellenbosch University

 ENGLISH ABSTRACT: Schizophrenia is a debilitating disorder that occurs the world over. Although antipsychotics are largely effective in treating the positive symptoms of schizophrenia, the… (more)

Subjects/Keywords: Antipsychotics; Schizophrenia; Pharmacogenetics; Exome sequencing; Department of Genetics

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APA (6th Edition):

Drogemoller, B. I. (2013). Investigation of genetic variation contributing to antipsychotic treatment response in a South African first episode schizophrenia cohort. (Doctoral Dissertation). Stellenbosch University. Retrieved from http://hdl.handle.net/10019.1/95473

Chicago Manual of Style (16th Edition):

Drogemoller, Britt Ingrid. “Investigation of genetic variation contributing to antipsychotic treatment response in a South African first episode schizophrenia cohort.” 2013. Doctoral Dissertation, Stellenbosch University. Accessed April 14, 2021. http://hdl.handle.net/10019.1/95473.

MLA Handbook (7th Edition):

Drogemoller, Britt Ingrid. “Investigation of genetic variation contributing to antipsychotic treatment response in a South African first episode schizophrenia cohort.” 2013. Web. 14 Apr 2021.

Vancouver:

Drogemoller BI. Investigation of genetic variation contributing to antipsychotic treatment response in a South African first episode schizophrenia cohort. [Internet] [Doctoral dissertation]. Stellenbosch University; 2013. [cited 2021 Apr 14]. Available from: http://hdl.handle.net/10019.1/95473.

Council of Science Editors:

Drogemoller BI. Investigation of genetic variation contributing to antipsychotic treatment response in a South African first episode schizophrenia cohort. [Doctoral Dissertation]. Stellenbosch University; 2013. Available from: http://hdl.handle.net/10019.1/95473

23. Jouenne, Fanélie. Apport du séquençage d’exomes constitutionnels dans l’identification de nouveaux gènes de prédisposition aux cancers, sarcomes et mélanomes pédiatriques. : Constitutional Exome Sequencing contribution for identification of new cancer predisposing genes, sarcoma and pediatric melanoma.

Degree: Docteur es, Sciences de la vie et de la santé, 2017, Université Paris-Saclay (ComUE)

Le but de ce travail de thèse a été d’identifier par séquençage d’exomes, de nouveaux gènes de prédisposition dans 2 pathologies rares dont l’étiologie est… (more)

Subjects/Keywords: Prédisposition; Séquençage d'exomes; Mélanome; Sarcome; Predisposition; Exome sequencing; Melanoma; Sarcoma

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APA (6th Edition):

Jouenne, F. (2017). Apport du séquençage d’exomes constitutionnels dans l’identification de nouveaux gènes de prédisposition aux cancers, sarcomes et mélanomes pédiatriques. : Constitutional Exome Sequencing contribution for identification of new cancer predisposing genes, sarcoma and pediatric melanoma. (Doctoral Dissertation). Université Paris-Saclay (ComUE). Retrieved from http://www.theses.fr/2017SACLS224

Chicago Manual of Style (16th Edition):

Jouenne, Fanélie. “Apport du séquençage d’exomes constitutionnels dans l’identification de nouveaux gènes de prédisposition aux cancers, sarcomes et mélanomes pédiatriques. : Constitutional Exome Sequencing contribution for identification of new cancer predisposing genes, sarcoma and pediatric melanoma.” 2017. Doctoral Dissertation, Université Paris-Saclay (ComUE). Accessed April 14, 2021. http://www.theses.fr/2017SACLS224.

MLA Handbook (7th Edition):

Jouenne, Fanélie. “Apport du séquençage d’exomes constitutionnels dans l’identification de nouveaux gènes de prédisposition aux cancers, sarcomes et mélanomes pédiatriques. : Constitutional Exome Sequencing contribution for identification of new cancer predisposing genes, sarcoma and pediatric melanoma.” 2017. Web. 14 Apr 2021.

Vancouver:

Jouenne F. Apport du séquençage d’exomes constitutionnels dans l’identification de nouveaux gènes de prédisposition aux cancers, sarcomes et mélanomes pédiatriques. : Constitutional Exome Sequencing contribution for identification of new cancer predisposing genes, sarcoma and pediatric melanoma. [Internet] [Doctoral dissertation]. Université Paris-Saclay (ComUE); 2017. [cited 2021 Apr 14]. Available from: http://www.theses.fr/2017SACLS224.

Council of Science Editors:

Jouenne F. Apport du séquençage d’exomes constitutionnels dans l’identification de nouveaux gènes de prédisposition aux cancers, sarcomes et mélanomes pédiatriques. : Constitutional Exome Sequencing contribution for identification of new cancer predisposing genes, sarcoma and pediatric melanoma. [Doctoral Dissertation]. Université Paris-Saclay (ComUE); 2017. Available from: http://www.theses.fr/2017SACLS224


Harvard University

24. 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 April 14, 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. 14 Apr 2021.

Vancouver:

Lim TT. Exploring the genetic landscape of complex diseases using the recessive model. [Internet] [Doctoral dissertation]. Harvard University; 2014. [cited 2021 Apr 14]. 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


Harvard University

25. Sathirapongsasuti, Jarupon Fah. Post-Genomic Approaches to Personalized Medicine: Applications in Exome Sequencing, Microbiome, and COPD.

Degree: PhD, Biostatistics, 2013, Harvard University

 Since the completion of the sequencing of the human genome at the turn of the century, genomics has revolutionized the study of biology and medicine… (more)

Subjects/Keywords: Bioinformatics; Genetics; Statistics; COPD; eQTL; Exome sequencing; Integrative genomics; Microbiome; Network

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APA (6th Edition):

Sathirapongsasuti, J. F. (2013). Post-Genomic Approaches to Personalized Medicine: Applications in Exome Sequencing, Microbiome, and COPD. (Doctoral Dissertation). Harvard University. Retrieved from http://nrs.harvard.edu/urn-3:HUL.InstRepos:12274187

Chicago Manual of Style (16th Edition):

Sathirapongsasuti, Jarupon Fah. “Post-Genomic Approaches to Personalized Medicine: Applications in Exome Sequencing, Microbiome, and COPD.” 2013. Doctoral Dissertation, Harvard University. Accessed April 14, 2021. http://nrs.harvard.edu/urn-3:HUL.InstRepos:12274187.

MLA Handbook (7th Edition):

Sathirapongsasuti, Jarupon Fah. “Post-Genomic Approaches to Personalized Medicine: Applications in Exome Sequencing, Microbiome, and COPD.” 2013. Web. 14 Apr 2021.

Vancouver:

Sathirapongsasuti JF. Post-Genomic Approaches to Personalized Medicine: Applications in Exome Sequencing, Microbiome, and COPD. [Internet] [Doctoral dissertation]. Harvard University; 2013. [cited 2021 Apr 14]. Available from: http://nrs.harvard.edu/urn-3:HUL.InstRepos:12274187.

Council of Science Editors:

Sathirapongsasuti JF. Post-Genomic Approaches to Personalized Medicine: Applications in Exome Sequencing, Microbiome, and COPD. [Doctoral Dissertation]. Harvard University; 2013. Available from: http://nrs.harvard.edu/urn-3:HUL.InstRepos:12274187

26. C. Tiloca. EXOME SEQUENCING APPROACH TO IDENTIFY CAUSATIVE GENES FOR AMYOTROPHIC LATERAL SCLEROSIS.

Degree: 2015, Università degli Studi di Milano

 Introduzione: La Sclerosi laterale amiotrofica (SLA) è una malattia neurodegenerativa progressiva e fatale caratterizzata dalla perdita selettiva dei motoneuroni nella corteccia cerebrale, nel tronco cerebrale… (more)

Subjects/Keywords: Amyotrophic lateral sclerosis; neurodegenerative disease; exome-sequencing; Settore MED/26 - Neurologia

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APA (6th Edition):

Tiloca, C. (2015). EXOME SEQUENCING APPROACH TO IDENTIFY CAUSATIVE GENES FOR AMYOTROPHIC LATERAL SCLEROSIS. (Thesis). Università degli Studi di Milano. Retrieved from http://hdl.handle.net/2434/253040

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):

Tiloca, C.. “EXOME SEQUENCING APPROACH TO IDENTIFY CAUSATIVE GENES FOR AMYOTROPHIC LATERAL SCLEROSIS.” 2015. Thesis, Università degli Studi di Milano. Accessed April 14, 2021. http://hdl.handle.net/2434/253040.

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

MLA Handbook (7th Edition):

Tiloca, C.. “EXOME SEQUENCING APPROACH TO IDENTIFY CAUSATIVE GENES FOR AMYOTROPHIC LATERAL SCLEROSIS.” 2015. Web. 14 Apr 2021.

Vancouver:

Tiloca C. EXOME SEQUENCING APPROACH TO IDENTIFY CAUSATIVE GENES FOR AMYOTROPHIC LATERAL SCLEROSIS. [Internet] [Thesis]. Università degli Studi di Milano; 2015. [cited 2021 Apr 14]. Available from: http://hdl.handle.net/2434/253040.

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

Council of Science Editors:

Tiloca C. EXOME SEQUENCING APPROACH TO IDENTIFY CAUSATIVE GENES FOR AMYOTROPHIC LATERAL SCLEROSIS. [Thesis]. Università degli Studi di Milano; 2015. Available from: http://hdl.handle.net/2434/253040

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


Virginia Commonwealth University

27. Rymer, Karen. Identification of Candidate Genes for Craniosynostosis.

Degree: MS, Human Genetics, 2015, Virginia Commonwealth University

  Craniosynostosis is a disorder characterized by the premature fusing of cranial sutures in an infant. Premature closure of these sutures can lead to detrimental… (more)

Subjects/Keywords: craniosynostosis; skull; whole exome sequencing; suture; Diseases; Medicine and Health Sciences

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APA (6th Edition):

Rymer, K. (2015). Identification of Candidate Genes for Craniosynostosis. (Thesis). Virginia Commonwealth University. Retrieved from https://doi.org/10.25772/84CF-M543 ; https://scholarscompass.vcu.edu/etd/3782

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):

Rymer, Karen. “Identification of Candidate Genes for Craniosynostosis.” 2015. Thesis, Virginia Commonwealth University. Accessed April 14, 2021. https://doi.org/10.25772/84CF-M543 ; https://scholarscompass.vcu.edu/etd/3782.

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

MLA Handbook (7th Edition):

Rymer, Karen. “Identification of Candidate Genes for Craniosynostosis.” 2015. Web. 14 Apr 2021.

Vancouver:

Rymer K. Identification of Candidate Genes for Craniosynostosis. [Internet] [Thesis]. Virginia Commonwealth University; 2015. [cited 2021 Apr 14]. Available from: https://doi.org/10.25772/84CF-M543 ; https://scholarscompass.vcu.edu/etd/3782.

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

Council of Science Editors:

Rymer K. Identification of Candidate Genes for Craniosynostosis. [Thesis]. Virginia Commonwealth University; 2015. Available from: https://doi.org/10.25772/84CF-M543 ; https://scholarscompass.vcu.edu/etd/3782

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

28. 조, 현우. Analysis of Exome Sequencing in Hepatocellular Carcinoma.

Degree: 2013, Ajou University

Hepatocellular carcinoma (HCC) is the type of cancer difficult to classify and analyze despite the high occurrence, because it displays a high level of tumor… (more)

Subjects/Keywords: 간암; 엑솜 염기서열 분석; Microarray; Gene ontology; Hepatocellular carcinoma; Exome sequencing

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

APA (6th Edition):

조, . (2013). Analysis of Exome Sequencing in Hepatocellular Carcinoma. (Thesis). Ajou University. Retrieved from http://repository.ajou.ac.kr/handle/201003/8583 ; http://dcoll.ajou.ac.kr:9080/dcollection/jsp/common/DcLoOrgPer.jsp?sItemId=000000013484

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):

조, 현우. “Analysis of Exome Sequencing in Hepatocellular Carcinoma.” 2013. Thesis, Ajou University. Accessed April 14, 2021. http://repository.ajou.ac.kr/handle/201003/8583 ; http://dcoll.ajou.ac.kr:9080/dcollection/jsp/common/DcLoOrgPer.jsp?sItemId=000000013484.

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

MLA Handbook (7th Edition):

조, 현우. “Analysis of Exome Sequencing in Hepatocellular Carcinoma.” 2013. Web. 14 Apr 2021.

Vancouver:

조 . Analysis of Exome Sequencing in Hepatocellular Carcinoma. [Internet] [Thesis]. Ajou University; 2013. [cited 2021 Apr 14]. Available from: http://repository.ajou.ac.kr/handle/201003/8583 ; http://dcoll.ajou.ac.kr:9080/dcollection/jsp/common/DcLoOrgPer.jsp?sItemId=000000013484.

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

Council of Science Editors:

조 . Analysis of Exome Sequencing in Hepatocellular Carcinoma. [Thesis]. Ajou University; 2013. Available from: http://repository.ajou.ac.kr/handle/201003/8583 ; http://dcoll.ajou.ac.kr:9080/dcollection/jsp/common/DcLoOrgPer.jsp?sItemId=000000013484

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

29. M. Robusto. INHERITED HEARING LOSS: FROM GENE VARIANTS TO MECHANISMS OF DISEASE.

Degree: 2014, Università degli Studi di Milano

 Nonsyndromic Sensorineural Hearing Loss (NSHL) is the most common sensory disorder worldwide, affecting at least 1 in 500 newborns and more than half individuals older… (more)

Subjects/Keywords: NSHL; miR-96; whole exome sequencing; Settore BIO/13 - Biologia Applicata

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

APA (6th Edition):

Robusto, M. (2014). INHERITED HEARING LOSS: FROM GENE VARIANTS TO MECHANISMS OF DISEASE. (Thesis). Università degli Studi di Milano. Retrieved from http://hdl.handle.net/2434/229902

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):

Robusto, M.. “INHERITED HEARING LOSS: FROM GENE VARIANTS TO MECHANISMS OF DISEASE.” 2014. Thesis, Università degli Studi di Milano. Accessed April 14, 2021. http://hdl.handle.net/2434/229902.

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

MLA Handbook (7th Edition):

Robusto, M.. “INHERITED HEARING LOSS: FROM GENE VARIANTS TO MECHANISMS OF DISEASE.” 2014. Web. 14 Apr 2021.

Vancouver:

Robusto M. INHERITED HEARING LOSS: FROM GENE VARIANTS TO MECHANISMS OF DISEASE. [Internet] [Thesis]. Università degli Studi di Milano; 2014. [cited 2021 Apr 14]. Available from: http://hdl.handle.net/2434/229902.

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

Council of Science Editors:

Robusto M. INHERITED HEARING LOSS: FROM GENE VARIANTS TO MECHANISMS OF DISEASE. [Thesis]. Università degli Studi di Milano; 2014. Available from: http://hdl.handle.net/2434/229902

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


University of California – San Francisco

30. Rojo, Carlos. Elucidating the Genetics of Vaccine-Induced Febrile Seizure Through a GWAS and Exome Sequencing.

Degree: Biomedical Sciences, 2014, University of California – San Francisco

 Despite the tremendous success of vaccination efforts across the globe, outbreaks of vaccine-preventable childhood diseases in communities around the United States are increasing. These localized… (more)

Subjects/Keywords: Genetics; exome sequencing; febrile seizure; GWAS; measles; vaccine

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

APA (6th Edition):

Rojo, C. (2014). Elucidating the Genetics of Vaccine-Induced Febrile Seizure Through a GWAS and Exome Sequencing. (Thesis). University of California – San Francisco. Retrieved from http://www.escholarship.org/uc/item/56s84992

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):

Rojo, Carlos. “Elucidating the Genetics of Vaccine-Induced Febrile Seizure Through a GWAS and Exome Sequencing.” 2014. Thesis, University of California – San Francisco. Accessed April 14, 2021. http://www.escholarship.org/uc/item/56s84992.

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

MLA Handbook (7th Edition):

Rojo, Carlos. “Elucidating the Genetics of Vaccine-Induced Febrile Seizure Through a GWAS and Exome Sequencing.” 2014. Web. 14 Apr 2021.

Vancouver:

Rojo C. Elucidating the Genetics of Vaccine-Induced Febrile Seizure Through a GWAS and Exome Sequencing. [Internet] [Thesis]. University of California – San Francisco; 2014. [cited 2021 Apr 14]. Available from: http://www.escholarship.org/uc/item/56s84992.

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

Council of Science Editors:

Rojo C. Elucidating the Genetics of Vaccine-Induced Febrile Seizure Through a GWAS and Exome Sequencing. [Thesis]. University of California – San Francisco; 2014. Available from: http://www.escholarship.org/uc/item/56s84992

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

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