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You searched for subject:(Rare disease). Showing records 1 – 30 of 80 total matches.

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University of California – Irvine

1. Qian, Emily. A Comparison of Perceived Barriers to Healthcare between Malaysian and Californian Patients with Rare Disease.

Degree: Genetic Counseling, 2016, University of California – Irvine

 In the era of personalized and genomic medicine, awareness of patients with rare diseases is increasing as new approaches to diagnosis and treatment are developed.… (more)

Subjects/Keywords: Genetics; Genetic Counseling; Healthcare; Malaysia; Rare disease

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APA (6th Edition):

Qian, E. (2016). A Comparison of Perceived Barriers to Healthcare between Malaysian and Californian Patients with Rare Disease. (Thesis). University of California – Irvine. Retrieved from http://www.escholarship.org/uc/item/1gp761kg

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):

Qian, Emily. “A Comparison of Perceived Barriers to Healthcare between Malaysian and Californian Patients with Rare Disease.” 2016. Thesis, University of California – Irvine. Accessed September 19, 2020. http://www.escholarship.org/uc/item/1gp761kg.

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

MLA Handbook (7th Edition):

Qian, Emily. “A Comparison of Perceived Barriers to Healthcare between Malaysian and Californian Patients with Rare Disease.” 2016. Web. 19 Sep 2020.

Vancouver:

Qian E. A Comparison of Perceived Barriers to Healthcare between Malaysian and Californian Patients with Rare Disease. [Internet] [Thesis]. University of California – Irvine; 2016. [cited 2020 Sep 19]. Available from: http://www.escholarship.org/uc/item/1gp761kg.

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

Council of Science Editors:

Qian E. A Comparison of Perceived Barriers to Healthcare between Malaysian and Californian Patients with Rare Disease. [Thesis]. University of California – Irvine; 2016. Available from: http://www.escholarship.org/uc/item/1gp761kg

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


University of Alberta

2. Yong, Jian. Developing a Patient-Focused Study Design for Rare Disease Clinical Trials.

Degree: MS, Department of Public Health Sciences, 2014, University of Alberta

 Randomized controlled trials for a rare disease face methodological difficulties in evaluating treatment effects due to characteristics of rare diseases such as a small patient… (more)

Subjects/Keywords: rare disease; analysis; study design; clinical trial

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APA (6th Edition):

Yong, J. (2014). Developing a Patient-Focused Study Design for Rare Disease Clinical Trials. (Masters Thesis). University of Alberta. Retrieved from https://era.library.ualberta.ca/files/9c67wn754

Chicago Manual of Style (16th Edition):

Yong, Jian. “Developing a Patient-Focused Study Design for Rare Disease Clinical Trials.” 2014. Masters Thesis, University of Alberta. Accessed September 19, 2020. https://era.library.ualberta.ca/files/9c67wn754.

MLA Handbook (7th Edition):

Yong, Jian. “Developing a Patient-Focused Study Design for Rare Disease Clinical Trials.” 2014. Web. 19 Sep 2020.

Vancouver:

Yong J. Developing a Patient-Focused Study Design for Rare Disease Clinical Trials. [Internet] [Masters thesis]. University of Alberta; 2014. [cited 2020 Sep 19]. Available from: https://era.library.ualberta.ca/files/9c67wn754.

Council of Science Editors:

Yong J. Developing a Patient-Focused Study Design for Rare Disease Clinical Trials. [Masters Thesis]. University of Alberta; 2014. Available from: https://era.library.ualberta.ca/files/9c67wn754


University of Newcastle

3. Kepreotes, Elizabeth Ann. A critical ethnography: the parental impact of diagnosed rare diseases of childhood.

Degree: PhD, 2014, University of Newcastle

Research Doctorate - Doctor of Philosophy (PhD)

Aim: To identify the factors that impact upon and influence parents’ ability to cope and adapt to being… (more)

Subjects/Keywords: children; critical ethnograpghy; parent experience; rare disease

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APA (6th Edition):

Kepreotes, E. A. (2014). A critical ethnography: the parental impact of diagnosed rare diseases of childhood. (Doctoral Dissertation). University of Newcastle. Retrieved from http://hdl.handle.net/1959.13/1052940

Chicago Manual of Style (16th Edition):

Kepreotes, Elizabeth Ann. “A critical ethnography: the parental impact of diagnosed rare diseases of childhood.” 2014. Doctoral Dissertation, University of Newcastle. Accessed September 19, 2020. http://hdl.handle.net/1959.13/1052940.

MLA Handbook (7th Edition):

Kepreotes, Elizabeth Ann. “A critical ethnography: the parental impact of diagnosed rare diseases of childhood.” 2014. Web. 19 Sep 2020.

Vancouver:

Kepreotes EA. A critical ethnography: the parental impact of diagnosed rare diseases of childhood. [Internet] [Doctoral dissertation]. University of Newcastle; 2014. [cited 2020 Sep 19]. Available from: http://hdl.handle.net/1959.13/1052940.

Council of Science Editors:

Kepreotes EA. A critical ethnography: the parental impact of diagnosed rare diseases of childhood. [Doctoral Dissertation]. University of Newcastle; 2014. Available from: http://hdl.handle.net/1959.13/1052940


Rochester Institute of Technology

4. Cummings, James P. The Lifetime Economic Burden of Monogenic Diseases And The Social Motivations For Their Treatment With Genetic Therapy.

Degree: MS, Public Policy (CLA), 2018, Rochester Institute of Technology

  The purpose of this thesis is to investigate the social cost motivations associated with paying for genetic therapies at the beginning of life for… (more)

Subjects/Keywords: CRISPR; Direct social costs; Genetic disease; Net present value; Rare disease

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APA (6th Edition):

Cummings, J. P. (2018). The Lifetime Economic Burden of Monogenic Diseases And The Social Motivations For Their Treatment With Genetic Therapy. (Masters Thesis). Rochester Institute of Technology. Retrieved from https://scholarworks.rit.edu/theses/9845

Chicago Manual of Style (16th Edition):

Cummings, James P. “The Lifetime Economic Burden of Monogenic Diseases And The Social Motivations For Their Treatment With Genetic Therapy.” 2018. Masters Thesis, Rochester Institute of Technology. Accessed September 19, 2020. https://scholarworks.rit.edu/theses/9845.

MLA Handbook (7th Edition):

Cummings, James P. “The Lifetime Economic Burden of Monogenic Diseases And The Social Motivations For Their Treatment With Genetic Therapy.” 2018. Web. 19 Sep 2020.

Vancouver:

Cummings JP. The Lifetime Economic Burden of Monogenic Diseases And The Social Motivations For Their Treatment With Genetic Therapy. [Internet] [Masters thesis]. Rochester Institute of Technology; 2018. [cited 2020 Sep 19]. Available from: https://scholarworks.rit.edu/theses/9845.

Council of Science Editors:

Cummings JP. The Lifetime Economic Burden of Monogenic Diseases And The Social Motivations For Their Treatment With Genetic Therapy. [Masters Thesis]. Rochester Institute of Technology; 2018. Available from: https://scholarworks.rit.edu/theses/9845


Penn State University

5. Dimmock, Anne Elizabeth. Evaluation of a Computable Phenotype for Idiopathic Pulmonary Fibrosis.

Degree: 2016, Penn State University

 Introduction: The electronic medical record (EMR) is a common source of data for clinical research. However, the quality of EMR-based research depends on the validity… (more)

Subjects/Keywords: idiopathic pulmonary fibrosis; computable phenotype; electronic health record; rare disease

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APA (6th Edition):

Dimmock, A. E. (2016). Evaluation of a Computable Phenotype for Idiopathic Pulmonary Fibrosis. (Thesis). Penn State University. Retrieved from https://submit-etda.libraries.psu.edu/catalog/28913

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):

Dimmock, Anne Elizabeth. “Evaluation of a Computable Phenotype for Idiopathic Pulmonary Fibrosis.” 2016. Thesis, Penn State University. Accessed September 19, 2020. https://submit-etda.libraries.psu.edu/catalog/28913.

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

MLA Handbook (7th Edition):

Dimmock, Anne Elizabeth. “Evaluation of a Computable Phenotype for Idiopathic Pulmonary Fibrosis.” 2016. Web. 19 Sep 2020.

Vancouver:

Dimmock AE. Evaluation of a Computable Phenotype for Idiopathic Pulmonary Fibrosis. [Internet] [Thesis]. Penn State University; 2016. [cited 2020 Sep 19]. Available from: https://submit-etda.libraries.psu.edu/catalog/28913.

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

Council of Science Editors:

Dimmock AE. Evaluation of a Computable Phenotype for Idiopathic Pulmonary Fibrosis. [Thesis]. Penn State University; 2016. Available from: https://submit-etda.libraries.psu.edu/catalog/28913

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


University of Ottawa

6. Kennedy, Erin. Translation Homeostasis Contributes to SIFD Pathobiology in Yeast .

Degree: 2018, University of Ottawa

 Protein phosphorylation is an essential regulatory mechanism employed by many key pathways in the eukaryotic cell. This thesis explored two examples of protein phosphorylation, one… (more)

Subjects/Keywords: Mitochondria; TRNT1; Cca1; Translation; Rare disease; Stress response

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APA (6th Edition):

Kennedy, E. (2018). Translation Homeostasis Contributes to SIFD Pathobiology in Yeast . (Thesis). University of Ottawa. Retrieved from http://hdl.handle.net/10393/38010

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):

Kennedy, Erin. “Translation Homeostasis Contributes to SIFD Pathobiology in Yeast .” 2018. Thesis, University of Ottawa. Accessed September 19, 2020. http://hdl.handle.net/10393/38010.

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

MLA Handbook (7th Edition):

Kennedy, Erin. “Translation Homeostasis Contributes to SIFD Pathobiology in Yeast .” 2018. Web. 19 Sep 2020.

Vancouver:

Kennedy E. Translation Homeostasis Contributes to SIFD Pathobiology in Yeast . [Internet] [Thesis]. University of Ottawa; 2018. [cited 2020 Sep 19]. Available from: http://hdl.handle.net/10393/38010.

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

Council of Science Editors:

Kennedy E. Translation Homeostasis Contributes to SIFD Pathobiology in Yeast . [Thesis]. University of Ottawa; 2018. Available from: http://hdl.handle.net/10393/38010

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

7. de Vos, Ivo Johannes Hendrikus Marie. Skin and Bones: Studying the effects of MMP14 mutations.

Degree: 2018, Datawyse / Universitaire Pers Maastricht

 Winchester syndrome (WS) is a rare genetic disease characterised by bone abnormalities, mitral valve insufficiency and acne. WS is caused by mutations in the MMP14… (more)

Subjects/Keywords: MMP14; rare bone disease; acne

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APA (6th Edition):

de Vos, I. J. H. M. (2018). Skin and Bones: Studying the effects of MMP14 mutations. (Doctoral Dissertation). Datawyse / Universitaire Pers Maastricht. Retrieved from https://cris.maastrichtuniversity.nl/en/publications/adb9afd5-643c-4685-8e9f-ad360fb693a2 ; urn:nbn:nl:ui:27-adb9afd5-643c-4685-8e9f-ad360fb693a2 ; adb9afd5-643c-4685-8e9f-ad360fb693a2 ; 10.26481/dis.20181219iv ; urn:isbn:9789463800822 ; urn:nbn:nl:ui:27-adb9afd5-643c-4685-8e9f-ad360fb693a2 ; https://cris.maastrichtuniversity.nl/en/publications/adb9afd5-643c-4685-8e9f-ad360fb693a2

Chicago Manual of Style (16th Edition):

de Vos, Ivo Johannes Hendrikus Marie. “Skin and Bones: Studying the effects of MMP14 mutations.” 2018. Doctoral Dissertation, Datawyse / Universitaire Pers Maastricht. Accessed September 19, 2020. https://cris.maastrichtuniversity.nl/en/publications/adb9afd5-643c-4685-8e9f-ad360fb693a2 ; urn:nbn:nl:ui:27-adb9afd5-643c-4685-8e9f-ad360fb693a2 ; adb9afd5-643c-4685-8e9f-ad360fb693a2 ; 10.26481/dis.20181219iv ; urn:isbn:9789463800822 ; urn:nbn:nl:ui:27-adb9afd5-643c-4685-8e9f-ad360fb693a2 ; https://cris.maastrichtuniversity.nl/en/publications/adb9afd5-643c-4685-8e9f-ad360fb693a2.

MLA Handbook (7th Edition):

de Vos, Ivo Johannes Hendrikus Marie. “Skin and Bones: Studying the effects of MMP14 mutations.” 2018. Web. 19 Sep 2020.

Vancouver:

de Vos IJHM. Skin and Bones: Studying the effects of MMP14 mutations. [Internet] [Doctoral dissertation]. Datawyse / Universitaire Pers Maastricht; 2018. [cited 2020 Sep 19]. Available from: https://cris.maastrichtuniversity.nl/en/publications/adb9afd5-643c-4685-8e9f-ad360fb693a2 ; urn:nbn:nl:ui:27-adb9afd5-643c-4685-8e9f-ad360fb693a2 ; adb9afd5-643c-4685-8e9f-ad360fb693a2 ; 10.26481/dis.20181219iv ; urn:isbn:9789463800822 ; urn:nbn:nl:ui:27-adb9afd5-643c-4685-8e9f-ad360fb693a2 ; https://cris.maastrichtuniversity.nl/en/publications/adb9afd5-643c-4685-8e9f-ad360fb693a2.

Council of Science Editors:

de Vos IJHM. Skin and Bones: Studying the effects of MMP14 mutations. [Doctoral Dissertation]. Datawyse / Universitaire Pers Maastricht; 2018. Available from: https://cris.maastrichtuniversity.nl/en/publications/adb9afd5-643c-4685-8e9f-ad360fb693a2 ; urn:nbn:nl:ui:27-adb9afd5-643c-4685-8e9f-ad360fb693a2 ; adb9afd5-643c-4685-8e9f-ad360fb693a2 ; 10.26481/dis.20181219iv ; urn:isbn:9789463800822 ; urn:nbn:nl:ui:27-adb9afd5-643c-4685-8e9f-ad360fb693a2 ; https://cris.maastrichtuniversity.nl/en/publications/adb9afd5-643c-4685-8e9f-ad360fb693a2


Harvard University

8. 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 September 19, 2020. 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. 19 Sep 2020.

Vancouver:

Lim TT. Exploring the genetic landscape of complex diseases using the recessive model. [Internet] [Doctoral dissertation]. Harvard University; 2014. [cited 2020 Sep 19]. 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


Universitat Politècnica de València

9. Sanchis Juan, Alba. Exome Sequencing in Gastrointestinal Food Allergy Induced by Multiple Food Protein .

Degree: 2020, Universitat Politècnica de València

 [ES] Durante las últimas décadas, se han realizado importantes avances en el estudio de las causas genéticas de enfermedades raras y comunes, donde un gran… (more)

Subjects/Keywords: Exome sequencing; Gastrointestinal food allergy; Clinical genomics; Rare disease

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APA (6th Edition):

Sanchis Juan, A. (2020). Exome Sequencing in Gastrointestinal Food Allergy Induced by Multiple Food Protein . (Doctoral Dissertation). Universitat Politècnica de València. Retrieved from http://hdl.handle.net/10251/134361

Chicago Manual of Style (16th Edition):

Sanchis Juan, Alba. “Exome Sequencing in Gastrointestinal Food Allergy Induced by Multiple Food Protein .” 2020. Doctoral Dissertation, Universitat Politècnica de València. Accessed September 19, 2020. http://hdl.handle.net/10251/134361.

MLA Handbook (7th Edition):

Sanchis Juan, Alba. “Exome Sequencing in Gastrointestinal Food Allergy Induced by Multiple Food Protein .” 2020. Web. 19 Sep 2020.

Vancouver:

Sanchis Juan A. Exome Sequencing in Gastrointestinal Food Allergy Induced by Multiple Food Protein . [Internet] [Doctoral dissertation]. Universitat Politècnica de València; 2020. [cited 2020 Sep 19]. Available from: http://hdl.handle.net/10251/134361.

Council of Science Editors:

Sanchis Juan A. Exome Sequencing in Gastrointestinal Food Allergy Induced by Multiple Food Protein . [Doctoral Dissertation]. Universitat Politècnica de València; 2020. Available from: http://hdl.handle.net/10251/134361


University of Cambridge

10. Farmery, James Henry Royston. Estimating telomere length from whole genome sequencing data.

Degree: PhD, 2018, University of Cambridge

 This thesis details the development of two computational tools, Telomerecat and Parabam, as well as their applications to whole genome sequencing (WGS) data. Telomerecat is… (more)

Subjects/Keywords: 616.99; telomere; telomerecat; parabam; prostate; cancer; rare blood disease; dyskeratosis congenita

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APA (6th Edition):

Farmery, J. H. R. (2018). Estimating telomere length from whole genome sequencing data. (Doctoral Dissertation). University of Cambridge. Retrieved from https://www.repository.cam.ac.uk/handle/1810/275827 ; https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.744843

Chicago Manual of Style (16th Edition):

Farmery, James Henry Royston. “Estimating telomere length from whole genome sequencing data.” 2018. Doctoral Dissertation, University of Cambridge. Accessed September 19, 2020. https://www.repository.cam.ac.uk/handle/1810/275827 ; https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.744843.

MLA Handbook (7th Edition):

Farmery, James Henry Royston. “Estimating telomere length from whole genome sequencing data.” 2018. Web. 19 Sep 2020.

Vancouver:

Farmery JHR. Estimating telomere length from whole genome sequencing data. [Internet] [Doctoral dissertation]. University of Cambridge; 2018. [cited 2020 Sep 19]. Available from: https://www.repository.cam.ac.uk/handle/1810/275827 ; https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.744843.

Council of Science Editors:

Farmery JHR. Estimating telomere length from whole genome sequencing data. [Doctoral Dissertation]. University of Cambridge; 2018. Available from: https://www.repository.cam.ac.uk/handle/1810/275827 ; https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.744843


University of Cambridge

11. Farmery, James Henry Royston. Estimating telomere length from whole genome sequencing data.

Degree: PhD, 2018, University of Cambridge

 This thesis details the development of two computational tools, Telomerecat and Parabam, as well as their applications to whole genome sequencing (WGS) data. Telomerecat is… (more)

Subjects/Keywords: telomere; telomerecat; parabam; prostate; cancer; rare blood disease; dyskeratosis congenita

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

APA (6th Edition):

Farmery, J. H. R. (2018). Estimating telomere length from whole genome sequencing data. (Doctoral Dissertation). University of Cambridge. Retrieved from https://www.repository.cam.ac.uk/handle/1810/275827

Chicago Manual of Style (16th Edition):

Farmery, James Henry Royston. “Estimating telomere length from whole genome sequencing data.” 2018. Doctoral Dissertation, University of Cambridge. Accessed September 19, 2020. https://www.repository.cam.ac.uk/handle/1810/275827.

MLA Handbook (7th Edition):

Farmery, James Henry Royston. “Estimating telomere length from whole genome sequencing data.” 2018. Web. 19 Sep 2020.

Vancouver:

Farmery JHR. Estimating telomere length from whole genome sequencing data. [Internet] [Doctoral dissertation]. University of Cambridge; 2018. [cited 2020 Sep 19]. Available from: https://www.repository.cam.ac.uk/handle/1810/275827.

Council of Science Editors:

Farmery JHR. Estimating telomere length from whole genome sequencing data. [Doctoral Dissertation]. University of Cambridge; 2018. Available from: https://www.repository.cam.ac.uk/handle/1810/275827


Georgia Tech

12. Zhao, Jing. Rare and common genetic variant associations with quantitative human phenotypes.

Degree: PhD, Biology, 2015, Georgia Tech

 This dissertation aims at investigating the association between genotypes and phenotypes in human. Both common and rare regulatory variants have been studied. The phenotypes include… (more)

Subjects/Keywords: Rare variants; Gene expression; Common variants; Disease risk; GWAS

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APA (6th Edition):

Zhao, J. (2015). Rare and common genetic variant associations with quantitative human phenotypes. (Doctoral Dissertation). Georgia Tech. Retrieved from http://hdl.handle.net/1853/53923

Chicago Manual of Style (16th Edition):

Zhao, Jing. “Rare and common genetic variant associations with quantitative human phenotypes.” 2015. Doctoral Dissertation, Georgia Tech. Accessed September 19, 2020. http://hdl.handle.net/1853/53923.

MLA Handbook (7th Edition):

Zhao, Jing. “Rare and common genetic variant associations with quantitative human phenotypes.” 2015. Web. 19 Sep 2020.

Vancouver:

Zhao J. Rare and common genetic variant associations with quantitative human phenotypes. [Internet] [Doctoral dissertation]. Georgia Tech; 2015. [cited 2020 Sep 19]. Available from: http://hdl.handle.net/1853/53923.

Council of Science Editors:

Zhao J. Rare and common genetic variant associations with quantitative human phenotypes. [Doctoral Dissertation]. Georgia Tech; 2015. Available from: http://hdl.handle.net/1853/53923


University of Cincinnati

13. Zhang, Minlu. Discovery and Analysis of Patterns in Molecular Networks: Link Prediction, Network Analysis, and Applications to Novel Drug Target Discovery.

Degree: PhD, Engineering and Applied Science: Computer Science and Engineering, 2012, University of Cincinnati

  One of the most challenging problems in the post-genomic era for computer scientists and bioinformaticians is to identify meaningful patterns from a huge amount… (more)

Subjects/Keywords: Computer Science; network analysis; link prediction; transcriptional regulation; orphan disease; rare disease; protein-protein interaction

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APA (6th Edition):

Zhang, M. (2012). Discovery and Analysis of Patterns in Molecular Networks: Link Prediction, Network Analysis, and Applications to Novel Drug Target Discovery. (Doctoral Dissertation). University of Cincinnati. Retrieved from http://rave.ohiolink.edu/etdc/view?acc_num=ucin1330024618

Chicago Manual of Style (16th Edition):

Zhang, Minlu. “Discovery and Analysis of Patterns in Molecular Networks: Link Prediction, Network Analysis, and Applications to Novel Drug Target Discovery.” 2012. Doctoral Dissertation, University of Cincinnati. Accessed September 19, 2020. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1330024618.

MLA Handbook (7th Edition):

Zhang, Minlu. “Discovery and Analysis of Patterns in Molecular Networks: Link Prediction, Network Analysis, and Applications to Novel Drug Target Discovery.” 2012. Web. 19 Sep 2020.

Vancouver:

Zhang M. Discovery and Analysis of Patterns in Molecular Networks: Link Prediction, Network Analysis, and Applications to Novel Drug Target Discovery. [Internet] [Doctoral dissertation]. University of Cincinnati; 2012. [cited 2020 Sep 19]. Available from: http://rave.ohiolink.edu/etdc/view?acc_num=ucin1330024618.

Council of Science Editors:

Zhang M. Discovery and Analysis of Patterns in Molecular Networks: Link Prediction, Network Analysis, and Applications to Novel Drug Target Discovery. [Doctoral Dissertation]. University of Cincinnati; 2012. Available from: http://rave.ohiolink.edu/etdc/view?acc_num=ucin1330024618

14. Sivilotti, Lucas. La médiation auprès des étudiants atteints de cancer ou de maladies rares : analyse et compréhension des enjeux. Étude en Nouvelle-Aquitaine autour de la trajectoire estudiantine et des interactions plurielles : Mediation with students living with cancer or a rare disease : analysis and understanding of issues involved. A study carried out in the Nouvelle-Aquitaine region on post-secondary pathway and its complex interaction.

Degree: Docteur es, Sciences de l'éducation, 2019, Bordeaux

Malgré une forte médiatisation depuis plusieurs années, les pathologies rares (maladies rares et cancers) restent mal connues que ce soit par le grand public ou… (more)

Subjects/Keywords: Médiation; Étudiants; Enseignement supérieur; Cancer; Maladie rare; Transitions; Mediation; Students; Higher education; Cancer; Rare disease; Transitions

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APA (6th Edition):

Sivilotti, L. (2019). La médiation auprès des étudiants atteints de cancer ou de maladies rares : analyse et compréhension des enjeux. Étude en Nouvelle-Aquitaine autour de la trajectoire estudiantine et des interactions plurielles : Mediation with students living with cancer or a rare disease : analysis and understanding of issues involved. A study carried out in the Nouvelle-Aquitaine region on post-secondary pathway and its complex interaction. (Doctoral Dissertation). Bordeaux. Retrieved from http://www.theses.fr/2019BORD0330

Chicago Manual of Style (16th Edition):

Sivilotti, Lucas. “La médiation auprès des étudiants atteints de cancer ou de maladies rares : analyse et compréhension des enjeux. Étude en Nouvelle-Aquitaine autour de la trajectoire estudiantine et des interactions plurielles : Mediation with students living with cancer or a rare disease : analysis and understanding of issues involved. A study carried out in the Nouvelle-Aquitaine region on post-secondary pathway and its complex interaction.” 2019. Doctoral Dissertation, Bordeaux. Accessed September 19, 2020. http://www.theses.fr/2019BORD0330.

MLA Handbook (7th Edition):

Sivilotti, Lucas. “La médiation auprès des étudiants atteints de cancer ou de maladies rares : analyse et compréhension des enjeux. Étude en Nouvelle-Aquitaine autour de la trajectoire estudiantine et des interactions plurielles : Mediation with students living with cancer or a rare disease : analysis and understanding of issues involved. A study carried out in the Nouvelle-Aquitaine region on post-secondary pathway and its complex interaction.” 2019. Web. 19 Sep 2020.

Vancouver:

Sivilotti L. La médiation auprès des étudiants atteints de cancer ou de maladies rares : analyse et compréhension des enjeux. Étude en Nouvelle-Aquitaine autour de la trajectoire estudiantine et des interactions plurielles : Mediation with students living with cancer or a rare disease : analysis and understanding of issues involved. A study carried out in the Nouvelle-Aquitaine region on post-secondary pathway and its complex interaction. [Internet] [Doctoral dissertation]. Bordeaux; 2019. [cited 2020 Sep 19]. Available from: http://www.theses.fr/2019BORD0330.

Council of Science Editors:

Sivilotti L. La médiation auprès des étudiants atteints de cancer ou de maladies rares : analyse et compréhension des enjeux. Étude en Nouvelle-Aquitaine autour de la trajectoire estudiantine et des interactions plurielles : Mediation with students living with cancer or a rare disease : analysis and understanding of issues involved. A study carried out in the Nouvelle-Aquitaine region on post-secondary pathway and its complex interaction. [Doctoral Dissertation]. Bordeaux; 2019. Available from: http://www.theses.fr/2019BORD0330

15. Roman, Alexis. La narcolepsie de type 1 : une pathologie du sommeil paradoxal ? : Narcolepsy type 1 : a paradoxical sleep disease ?.

Degree: Docteur es, Neurosciences, 2017, Lyon

La narcolepsie de type 1 (NT1) est une maladie neurologique rare caractérisée par une hypersomnolence diurne et des cataplexies - pertes de tonus musculaire pendant… (more)

Subjects/Keywords: Narcolepsie; Cataplexie; Maladie rare; Éveil; Sommeil paradoxal; Orexine; Souris; Homéostasie; Narcolepsy; Cataplexy; Rare disease; Wakefulness; Paradoxical sleep; Orexin; Mice; Homeostasis; 612.8

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

APA (6th Edition):

Roman, A. (2017). La narcolepsie de type 1 : une pathologie du sommeil paradoxal ? : Narcolepsy type 1 : a paradoxical sleep disease ?. (Doctoral Dissertation). Lyon. Retrieved from http://www.theses.fr/2017LYSE1329

Chicago Manual of Style (16th Edition):

Roman, Alexis. “La narcolepsie de type 1 : une pathologie du sommeil paradoxal ? : Narcolepsy type 1 : a paradoxical sleep disease ?.” 2017. Doctoral Dissertation, Lyon. Accessed September 19, 2020. http://www.theses.fr/2017LYSE1329.

MLA Handbook (7th Edition):

Roman, Alexis. “La narcolepsie de type 1 : une pathologie du sommeil paradoxal ? : Narcolepsy type 1 : a paradoxical sleep disease ?.” 2017. Web. 19 Sep 2020.

Vancouver:

Roman A. La narcolepsie de type 1 : une pathologie du sommeil paradoxal ? : Narcolepsy type 1 : a paradoxical sleep disease ?. [Internet] [Doctoral dissertation]. Lyon; 2017. [cited 2020 Sep 19]. Available from: http://www.theses.fr/2017LYSE1329.

Council of Science Editors:

Roman A. La narcolepsie de type 1 : une pathologie du sommeil paradoxal ? : Narcolepsy type 1 : a paradoxical sleep disease ?. [Doctoral Dissertation]. Lyon; 2017. Available from: http://www.theses.fr/2017LYSE1329

16. Mauriac, Stéphanie. Bases moléculaires de la physiopathologie de la voie de signalisation de la polarité planaire dépendante des protéines Gi : Molecular basis of the physiopathology of the planar cell polarity signaling pathway depending on Gi proteins.

Degree: Docteur es, Biologie Cellulaire et Physiopathologie, 2019, Bordeaux

La perte auditive est le trouble sensoriel le plus commun avec 40 % des personnes de plus de 65 ans affectées, entraînant, chez ces patients… (more)

Subjects/Keywords: Polarité; Cytosquelette; Pathologie rare; Corps calleux; Cochlée; Gpsm2; Polarity; Cytoskeleton; Rare disease; Corpus callosum; Cochlea; Gpsm2

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

APA (6th Edition):

Mauriac, S. (2019). Bases moléculaires de la physiopathologie de la voie de signalisation de la polarité planaire dépendante des protéines Gi : Molecular basis of the physiopathology of the planar cell polarity signaling pathway depending on Gi proteins. (Doctoral Dissertation). Bordeaux. Retrieved from http://www.theses.fr/2019BORD0080

Chicago Manual of Style (16th Edition):

Mauriac, Stéphanie. “Bases moléculaires de la physiopathologie de la voie de signalisation de la polarité planaire dépendante des protéines Gi : Molecular basis of the physiopathology of the planar cell polarity signaling pathway depending on Gi proteins.” 2019. Doctoral Dissertation, Bordeaux. Accessed September 19, 2020. http://www.theses.fr/2019BORD0080.

MLA Handbook (7th Edition):

Mauriac, Stéphanie. “Bases moléculaires de la physiopathologie de la voie de signalisation de la polarité planaire dépendante des protéines Gi : Molecular basis of the physiopathology of the planar cell polarity signaling pathway depending on Gi proteins.” 2019. Web. 19 Sep 2020.

Vancouver:

Mauriac S. Bases moléculaires de la physiopathologie de la voie de signalisation de la polarité planaire dépendante des protéines Gi : Molecular basis of the physiopathology of the planar cell polarity signaling pathway depending on Gi proteins. [Internet] [Doctoral dissertation]. Bordeaux; 2019. [cited 2020 Sep 19]. Available from: http://www.theses.fr/2019BORD0080.

Council of Science Editors:

Mauriac S. Bases moléculaires de la physiopathologie de la voie de signalisation de la polarité planaire dépendante des protéines Gi : Molecular basis of the physiopathology of the planar cell polarity signaling pathway depending on Gi proteins. [Doctoral Dissertation]. Bordeaux; 2019. Available from: http://www.theses.fr/2019BORD0080


University of Western Ontario

17. Ho, Rosettia. Genetic determinants underlying rare diseases identified using next-generation sequencing technologies.

Degree: 2018, University of Western Ontario

Rare disorders affect less than one in 2000 individuals, placing a huge burden on individuals, families and the health care system. Gene discovery is the… (more)

Subjects/Keywords: Next-generation sequencing; Genetic disease; Rare disease; Mendelian disease; Variant discovery; Copy-number variation; Medical Genetics

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

APA (6th Edition):

Ho, R. (2018). Genetic determinants underlying rare diseases identified using next-generation sequencing technologies. (Thesis). University of Western Ontario. Retrieved from https://ir.lib.uwo.ca/etd/5497

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):

Ho, Rosettia. “Genetic determinants underlying rare diseases identified using next-generation sequencing technologies.” 2018. Thesis, University of Western Ontario. Accessed September 19, 2020. https://ir.lib.uwo.ca/etd/5497.

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

MLA Handbook (7th Edition):

Ho, Rosettia. “Genetic determinants underlying rare diseases identified using next-generation sequencing technologies.” 2018. Web. 19 Sep 2020.

Vancouver:

Ho R. Genetic determinants underlying rare diseases identified using next-generation sequencing technologies. [Internet] [Thesis]. University of Western Ontario; 2018. [cited 2020 Sep 19]. Available from: https://ir.lib.uwo.ca/etd/5497.

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

Council of Science Editors:

Ho R. Genetic determinants underlying rare diseases identified using next-generation sequencing technologies. [Thesis]. University of Western Ontario; 2018. Available from: https://ir.lib.uwo.ca/etd/5497

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


Penn State University

18. Basile, Anna Okula. CONTINUING TO SEARCH FOR THE MISSING HERITABILITY USING BIOLOGICALLY-INSPIRED AND DATA-DRIVEN APPROACHES.

Degree: 2018, Penn State University

 Genome-wide association studies (GWAS) have been a commonly utilized technique in complex disease research for the identification of loci associated with common, polygenic traits. These… (more)

Subjects/Keywords: human genetics; complex disease; machine learning; informatics; pattern recognition; rare variants; missing heritability

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

APA (6th Edition):

Basile, A. O. (2018). CONTINUING TO SEARCH FOR THE MISSING HERITABILITY USING BIOLOGICALLY-INSPIRED AND DATA-DRIVEN APPROACHES. (Thesis). Penn State University. Retrieved from https://submit-etda.libraries.psu.edu/catalog/14970azo121

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):

Basile, Anna Okula. “CONTINUING TO SEARCH FOR THE MISSING HERITABILITY USING BIOLOGICALLY-INSPIRED AND DATA-DRIVEN APPROACHES.” 2018. Thesis, Penn State University. Accessed September 19, 2020. https://submit-etda.libraries.psu.edu/catalog/14970azo121.

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

MLA Handbook (7th Edition):

Basile, Anna Okula. “CONTINUING TO SEARCH FOR THE MISSING HERITABILITY USING BIOLOGICALLY-INSPIRED AND DATA-DRIVEN APPROACHES.” 2018. Web. 19 Sep 2020.

Vancouver:

Basile AO. CONTINUING TO SEARCH FOR THE MISSING HERITABILITY USING BIOLOGICALLY-INSPIRED AND DATA-DRIVEN APPROACHES. [Internet] [Thesis]. Penn State University; 2018. [cited 2020 Sep 19]. Available from: https://submit-etda.libraries.psu.edu/catalog/14970azo121.

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

Council of Science Editors:

Basile AO. CONTINUING TO SEARCH FOR THE MISSING HERITABILITY USING BIOLOGICALLY-INSPIRED AND DATA-DRIVEN APPROACHES. [Thesis]. Penn State University; 2018. Available from: https://submit-etda.libraries.psu.edu/catalog/14970azo121

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


Freie Universität Berlin

19. Hombach, Daniela. MutationDistiller – User-driven identification of disease mutations.

Degree: 2019, Freie Universität Berlin

 In rare genetic diseases, a single genetic alteration can be enough to cause a severe disorder. Recent advances in genetic research have introduced exome or… (more)

Subjects/Keywords: Genetics; MutationDistiller; Rare Disease; 500 Naturwissenschaften und Mathematik::570 Biowissenschaften; Biologie::572 Biochemie

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

APA (6th Edition):

Hombach, D. (2019). MutationDistiller – User-driven identification of disease mutations. (Thesis). Freie Universität Berlin. Retrieved from http://dx.doi.org/10.17169/refubium-25741

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):

Hombach, Daniela. “MutationDistiller – User-driven identification of disease mutations.” 2019. Thesis, Freie Universität Berlin. Accessed September 19, 2020. http://dx.doi.org/10.17169/refubium-25741.

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

MLA Handbook (7th Edition):

Hombach, Daniela. “MutationDistiller – User-driven identification of disease mutations.” 2019. Web. 19 Sep 2020.

Vancouver:

Hombach D. MutationDistiller – User-driven identification of disease mutations. [Internet] [Thesis]. Freie Universität Berlin; 2019. [cited 2020 Sep 19]. Available from: http://dx.doi.org/10.17169/refubium-25741.

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

Council of Science Editors:

Hombach D. MutationDistiller – User-driven identification of disease mutations. [Thesis]. Freie Universität Berlin; 2019. Available from: http://dx.doi.org/10.17169/refubium-25741

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

20. -5444-2558. Klippel-Feil Syndrome: A study of parents' experiences of diagnosis, health service use, and online support in a rare disease population.

Degree: MS, Family Therapy, 2017, Texas Woman's University

 ABSTRACT SHIRLEY SHROPSHIRE KLIPPEL-FEIL SYNDROME: A STUDY OF PARENTS’ EXPERIENCES OF DIAGNOSIS, HEALTH SERVICE USE, AND ONLINE SUPPORT IN A RARE DISEASE POPULATION DECEMBER 2017… (more)

Subjects/Keywords: Klippel-Feil syndrome; Rare disease; Parents; Health service; Patient-provider relationship; Diagnosis; Support group

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

APA (6th Edition):

-5444-2558. (2017). Klippel-Feil Syndrome: A study of parents' experiences of diagnosis, health service use, and online support in a rare disease population. (Masters Thesis). Texas Woman's University. Retrieved from http://hdl.handle.net/11274/9765

Note: this citation may be lacking information needed for this citation format:
Author name may be incomplete

Chicago Manual of Style (16th Edition):

-5444-2558. “Klippel-Feil Syndrome: A study of parents' experiences of diagnosis, health service use, and online support in a rare disease population.” 2017. Masters Thesis, Texas Woman's University. Accessed September 19, 2020. http://hdl.handle.net/11274/9765.

Note: this citation may be lacking information needed for this citation format:
Author name may be incomplete

MLA Handbook (7th Edition):

-5444-2558. “Klippel-Feil Syndrome: A study of parents' experiences of diagnosis, health service use, and online support in a rare disease population.” 2017. Web. 19 Sep 2020.

Note: this citation may be lacking information needed for this citation format:
Author name may be incomplete

Vancouver:

-5444-2558. Klippel-Feil Syndrome: A study of parents' experiences of diagnosis, health service use, and online support in a rare disease population. [Internet] [Masters thesis]. Texas Woman's University; 2017. [cited 2020 Sep 19]. Available from: http://hdl.handle.net/11274/9765.

Note: this citation may be lacking information needed for this citation format:
Author name may be incomplete

Council of Science Editors:

-5444-2558. Klippel-Feil Syndrome: A study of parents' experiences of diagnosis, health service use, and online support in a rare disease population. [Masters Thesis]. Texas Woman's University; 2017. Available from: http://hdl.handle.net/11274/9765

Note: this citation may be lacking information needed for this citation format:
Author name may be incomplete


Duke University

21. Zhu, Xiaolin. Whole-exome Sequencing in Rare Diseases and Complex Traits: Analysis and Interpretation .

Degree: 2017, Duke University

  Next-generation sequencing (NGS), including whole-exome sequencing (WES) and whole-genome sequencing (WGS), has dramatically empowered the human genetic analysis of disease. This is clearly demonstrated… (more)

Subjects/Keywords: Genetics; Collapsing analysis; Complex trait; Human genetics; Rare disease; Trio interpretation; Whole-exome sequencing

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

APA (6th Edition):

Zhu, X. (2017). Whole-exome Sequencing in Rare Diseases and Complex Traits: Analysis and Interpretation . (Thesis). Duke University. Retrieved from http://hdl.handle.net/10161/16222

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):

Zhu, Xiaolin. “Whole-exome Sequencing in Rare Diseases and Complex Traits: Analysis and Interpretation .” 2017. Thesis, Duke University. Accessed September 19, 2020. http://hdl.handle.net/10161/16222.

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

MLA Handbook (7th Edition):

Zhu, Xiaolin. “Whole-exome Sequencing in Rare Diseases and Complex Traits: Analysis and Interpretation .” 2017. Web. 19 Sep 2020.

Vancouver:

Zhu X. Whole-exome Sequencing in Rare Diseases and Complex Traits: Analysis and Interpretation . [Internet] [Thesis]. Duke University; 2017. [cited 2020 Sep 19]. Available from: http://hdl.handle.net/10161/16222.

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

Council of Science Editors:

Zhu X. Whole-exome Sequencing in Rare Diseases and Complex Traits: Analysis and Interpretation . [Thesis]. Duke University; 2017. Available from: http://hdl.handle.net/10161/16222

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


Washington University in St. Louis

22. Shyng, Charles. Infantile Batten Disease: Effective Therapy and Novel Model.

Degree: PhD, Biology & Biomedical Sciences (Molecular Cell Biology), 2016, Washington University in St. Louis

  Infantile neuronal ceroid lipofuscinosis (INCL, Infantile Batten) is typically an early onset, neurodegenerative lysosomal storage disorder. INCL is caused by mutations to the gene… (more)

Subjects/Keywords: Gene Therapy; Infantile Batten Disease; Lysosomal Storage Disorder; Neuronal Ceroid Lipofuscinosis; Palmitoyl-protein thioesterase-1; Rare Disease

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APA (6th Edition):

Shyng, C. (2016). Infantile Batten Disease: Effective Therapy and Novel Model. (Doctoral Dissertation). Washington University in St. Louis. Retrieved from https://openscholarship.wustl.edu/art_sci_etds/896

Chicago Manual of Style (16th Edition):

Shyng, Charles. “Infantile Batten Disease: Effective Therapy and Novel Model.” 2016. Doctoral Dissertation, Washington University in St. Louis. Accessed September 19, 2020. https://openscholarship.wustl.edu/art_sci_etds/896.

MLA Handbook (7th Edition):

Shyng, Charles. “Infantile Batten Disease: Effective Therapy and Novel Model.” 2016. Web. 19 Sep 2020.

Vancouver:

Shyng C. Infantile Batten Disease: Effective Therapy and Novel Model. [Internet] [Doctoral dissertation]. Washington University in St. Louis; 2016. [cited 2020 Sep 19]. Available from: https://openscholarship.wustl.edu/art_sci_etds/896.

Council of Science Editors:

Shyng C. Infantile Batten Disease: Effective Therapy and Novel Model. [Doctoral Dissertation]. Washington University in St. Louis; 2016. Available from: https://openscholarship.wustl.edu/art_sci_etds/896

23. Amelot, Vincent. Améliorer la prise en charge des patients et de leurs parents dans les essais cliniques en maladie rare : l'exemple de l'ataxie de Friedreich : Improve the patients and their parents'care in rare disease clinical trial : the Friedreich's ataxia example.

Degree: Docteur es, Psychologie, 2018, Sorbonne Paris Cité

 En Europe, une maladie est définie comme rare dès lors qu'elle touche moins d'une personne sur 2000, ce qui représente moins de 30 000 personnes… (more)

Subjects/Keywords: Maladie rare; Ataxie de Friedreich; Essai clinique; Qualité de vie; Psychologie; Handicap; Rare disease; Friedreich's ataxia; Clinical trial; Quality of life; Psychology; Disability; 616.83

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

APA (6th Edition):

Amelot, V. (2018). Améliorer la prise en charge des patients et de leurs parents dans les essais cliniques en maladie rare : l'exemple de l'ataxie de Friedreich : Improve the patients and their parents'care in rare disease clinical trial : the Friedreich's ataxia example. (Doctoral Dissertation). Sorbonne Paris Cité. Retrieved from http://www.theses.fr/2018USPCB020

Chicago Manual of Style (16th Edition):

Amelot, Vincent. “Améliorer la prise en charge des patients et de leurs parents dans les essais cliniques en maladie rare : l'exemple de l'ataxie de Friedreich : Improve the patients and their parents'care in rare disease clinical trial : the Friedreich's ataxia example.” 2018. Doctoral Dissertation, Sorbonne Paris Cité. Accessed September 19, 2020. http://www.theses.fr/2018USPCB020.

MLA Handbook (7th Edition):

Amelot, Vincent. “Améliorer la prise en charge des patients et de leurs parents dans les essais cliniques en maladie rare : l'exemple de l'ataxie de Friedreich : Improve the patients and their parents'care in rare disease clinical trial : the Friedreich's ataxia example.” 2018. Web. 19 Sep 2020.

Vancouver:

Amelot V. Améliorer la prise en charge des patients et de leurs parents dans les essais cliniques en maladie rare : l'exemple de l'ataxie de Friedreich : Improve the patients and their parents'care in rare disease clinical trial : the Friedreich's ataxia example. [Internet] [Doctoral dissertation]. Sorbonne Paris Cité; 2018. [cited 2020 Sep 19]. Available from: http://www.theses.fr/2018USPCB020.

Council of Science Editors:

Amelot V. Améliorer la prise en charge des patients et de leurs parents dans les essais cliniques en maladie rare : l'exemple de l'ataxie de Friedreich : Improve the patients and their parents'care in rare disease clinical trial : the Friedreich's ataxia example. [Doctoral Dissertation]. Sorbonne Paris Cité; 2018. Available from: http://www.theses.fr/2018USPCB020


University of California – Irvine

24. Shuman, Devin Merlene. An Assessment of the Cystic Fibrosis Community’s Use of Social Media as a Community and Medical Resource.

Degree: Genetic Counseling, 2017, University of California – Irvine

 The purpose of this study was to explore the Cystic Fibrosis (CF) community’s use of, goals for, and perspective about social media networks, as well… (more)

Subjects/Keywords: Genetics; Social research; Health sciences; cystic fibrosis; genetic counseling; genetics; online networks; rare disease; social media

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APA (6th Edition):

Shuman, D. M. (2017). An Assessment of the Cystic Fibrosis Community’s Use of Social Media as a Community and Medical Resource. (Thesis). University of California – Irvine. Retrieved from http://www.escholarship.org/uc/item/8mw9t844

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):

Shuman, Devin Merlene. “An Assessment of the Cystic Fibrosis Community’s Use of Social Media as a Community and Medical Resource.” 2017. Thesis, University of California – Irvine. Accessed September 19, 2020. http://www.escholarship.org/uc/item/8mw9t844.

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

MLA Handbook (7th Edition):

Shuman, Devin Merlene. “An Assessment of the Cystic Fibrosis Community’s Use of Social Media as a Community and Medical Resource.” 2017. Web. 19 Sep 2020.

Vancouver:

Shuman DM. An Assessment of the Cystic Fibrosis Community’s Use of Social Media as a Community and Medical Resource. [Internet] [Thesis]. University of California – Irvine; 2017. [cited 2020 Sep 19]. Available from: http://www.escholarship.org/uc/item/8mw9t844.

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

Council of Science Editors:

Shuman DM. An Assessment of the Cystic Fibrosis Community’s Use of Social Media as a Community and Medical Resource. [Thesis]. University of California – Irvine; 2017. Available from: http://www.escholarship.org/uc/item/8mw9t844

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

25. Silva, Eduarda Morgana da. Determinação da Base Molecular da Síndrome Ablefaria Macrostomia.

Degree: Mestrado, Genética, 2015, University of São Paulo

A Síndrome Ablefaria Macrostomia (SAM) é uma condição rara, onde os pacientes apresentam características clínicas marcantes como o encurtamento ou ausência das pálpebras superiores e… (more)

Subjects/Keywords: Ablepharon Macrostomia Syndrome; Doença rara; Exoma; Exome; Next generation sequencing; Nova geração de sequenciamento; Rare disease; Síndrome Ablefaria Macrostomia; TWIST2; TWIST2

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

APA (6th Edition):

Silva, E. M. d. (2015). Determinação da Base Molecular da Síndrome Ablefaria Macrostomia. (Masters Thesis). University of São Paulo. Retrieved from http://www.teses.usp.br/teses/disponiveis/17/17135/tde-28072015-112237/ ;

Chicago Manual of Style (16th Edition):

Silva, Eduarda Morgana da. “Determinação da Base Molecular da Síndrome Ablefaria Macrostomia.” 2015. Masters Thesis, University of São Paulo. Accessed September 19, 2020. http://www.teses.usp.br/teses/disponiveis/17/17135/tde-28072015-112237/ ;.

MLA Handbook (7th Edition):

Silva, Eduarda Morgana da. “Determinação da Base Molecular da Síndrome Ablefaria Macrostomia.” 2015. Web. 19 Sep 2020.

Vancouver:

Silva EMd. Determinação da Base Molecular da Síndrome Ablefaria Macrostomia. [Internet] [Masters thesis]. University of São Paulo; 2015. [cited 2020 Sep 19]. Available from: http://www.teses.usp.br/teses/disponiveis/17/17135/tde-28072015-112237/ ;.

Council of Science Editors:

Silva EMd. Determinação da Base Molecular da Síndrome Ablefaria Macrostomia. [Masters Thesis]. University of São Paulo; 2015. Available from: http://www.teses.usp.br/teses/disponiveis/17/17135/tde-28072015-112237/ ;


Texas Medical Center

26. Li, Alexander H. Detection of Genes Influencing Chronic and Mendelian Disease via Loss-Of-Function Variation.

Degree: PhD, 2015, Texas Medical Center

  A typical human exome harbors dozens of loss-of-function (LOF) variants predicted to severely disrupt or abolish gene function. These variants are enriched at the… (more)

Subjects/Keywords: genome; exome; loss-of-function; rare variation; gene; disease; Bioinformatics; Epidemiology; Genetics; Genomics; Medicine and Health Sciences

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APA (6th Edition):

Li, A. H. (2015). Detection of Genes Influencing Chronic and Mendelian Disease via Loss-Of-Function Variation. (Doctoral Dissertation). Texas Medical Center. Retrieved from https://digitalcommons.library.tmc.edu/utgsbs_dissertations/622

Chicago Manual of Style (16th Edition):

Li, Alexander H. “Detection of Genes Influencing Chronic and Mendelian Disease via Loss-Of-Function Variation.” 2015. Doctoral Dissertation, Texas Medical Center. Accessed September 19, 2020. https://digitalcommons.library.tmc.edu/utgsbs_dissertations/622.

MLA Handbook (7th Edition):

Li, Alexander H. “Detection of Genes Influencing Chronic and Mendelian Disease via Loss-Of-Function Variation.” 2015. Web. 19 Sep 2020.

Vancouver:

Li AH. Detection of Genes Influencing Chronic and Mendelian Disease via Loss-Of-Function Variation. [Internet] [Doctoral dissertation]. Texas Medical Center; 2015. [cited 2020 Sep 19]. Available from: https://digitalcommons.library.tmc.edu/utgsbs_dissertations/622.

Council of Science Editors:

Li AH. Detection of Genes Influencing Chronic and Mendelian Disease via Loss-Of-Function Variation. [Doctoral Dissertation]. Texas Medical Center; 2015. Available from: https://digitalcommons.library.tmc.edu/utgsbs_dissertations/622


Université de Lorraine

27. Rashka, Charif. Rôle des altérations génomiques et épigénomiques dans les mécanismes moléculaires à l’origine des pathologies associées aux maladies rares du métabolisme de la vitamine B12 : Role of the genomic and epigenomic alterations in the molecular mechanisms at the origin of the pathologies associated with rare inborn errors of vitamin B12 metabolism.

Degree: Docteur es, Sciences de la vie et de la santé, 2019, Université de Lorraine

Les défauts génétiques du métabolisme de la vitamine B12 ou cobalamine (cbl) conduisent à une diminution de l’activité de la méthionine synthase, de la synthèse… (more)

Subjects/Keywords: Maladies rares; Vitamine B12; Épigénomique; Transcriptomique; Épissage alternatif; Physiopathologie; Rare disease; Vitamin B12; Epigenomic; Transcriptomic; Alternative splicing; Physiopathology; 612.399; 616.07; 572.8

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

APA (6th Edition):

Rashka, C. (2019). Rôle des altérations génomiques et épigénomiques dans les mécanismes moléculaires à l’origine des pathologies associées aux maladies rares du métabolisme de la vitamine B12 : Role of the genomic and epigenomic alterations in the molecular mechanisms at the origin of the pathologies associated with rare inborn errors of vitamin B12 metabolism. (Doctoral Dissertation). Université de Lorraine. Retrieved from http://www.theses.fr/2019LORR0193

Chicago Manual of Style (16th Edition):

Rashka, Charif. “Rôle des altérations génomiques et épigénomiques dans les mécanismes moléculaires à l’origine des pathologies associées aux maladies rares du métabolisme de la vitamine B12 : Role of the genomic and epigenomic alterations in the molecular mechanisms at the origin of the pathologies associated with rare inborn errors of vitamin B12 metabolism.” 2019. Doctoral Dissertation, Université de Lorraine. Accessed September 19, 2020. http://www.theses.fr/2019LORR0193.

MLA Handbook (7th Edition):

Rashka, Charif. “Rôle des altérations génomiques et épigénomiques dans les mécanismes moléculaires à l’origine des pathologies associées aux maladies rares du métabolisme de la vitamine B12 : Role of the genomic and epigenomic alterations in the molecular mechanisms at the origin of the pathologies associated with rare inborn errors of vitamin B12 metabolism.” 2019. Web. 19 Sep 2020.

Vancouver:

Rashka C. Rôle des altérations génomiques et épigénomiques dans les mécanismes moléculaires à l’origine des pathologies associées aux maladies rares du métabolisme de la vitamine B12 : Role of the genomic and epigenomic alterations in the molecular mechanisms at the origin of the pathologies associated with rare inborn errors of vitamin B12 metabolism. [Internet] [Doctoral dissertation]. Université de Lorraine; 2019. [cited 2020 Sep 19]. Available from: http://www.theses.fr/2019LORR0193.

Council of Science Editors:

Rashka C. Rôle des altérations génomiques et épigénomiques dans les mécanismes moléculaires à l’origine des pathologies associées aux maladies rares du métabolisme de la vitamine B12 : Role of the genomic and epigenomic alterations in the molecular mechanisms at the origin of the pathologies associated with rare inborn errors of vitamin B12 metabolism. [Doctoral Dissertation]. Université de Lorraine; 2019. Available from: http://www.theses.fr/2019LORR0193


University of Oxford

28. Albers, Patrick K. Rare and low-frequency variants and predisposition to complex disease.

Degree: PhD, 2017, University of Oxford

 Advances in high-throughput genomic technologies have facilitated the collection of DNA information for thousands of individuals, providing unprecedented opportunities to explore the genetic architecture of… (more)

Subjects/Keywords: 616; Genetics; Medical genetics; Statistical genetics; Population genetics; Genomics; Rare variants; Haplotype; Complex disease; Identity by descent; Allele age

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

APA (6th Edition):

Albers, P. K. (2017). Rare and low-frequency variants and predisposition to complex disease. (Doctoral Dissertation). University of Oxford. Retrieved from http://ora.ox.ac.uk/objects/uuid:2d569297-5d2a-49c8-a1ca-32a978aec49d ; https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.748726

Chicago Manual of Style (16th Edition):

Albers, Patrick K. “Rare and low-frequency variants and predisposition to complex disease.” 2017. Doctoral Dissertation, University of Oxford. Accessed September 19, 2020. http://ora.ox.ac.uk/objects/uuid:2d569297-5d2a-49c8-a1ca-32a978aec49d ; https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.748726.

MLA Handbook (7th Edition):

Albers, Patrick K. “Rare and low-frequency variants and predisposition to complex disease.” 2017. Web. 19 Sep 2020.

Vancouver:

Albers PK. Rare and low-frequency variants and predisposition to complex disease. [Internet] [Doctoral dissertation]. University of Oxford; 2017. [cited 2020 Sep 19]. Available from: http://ora.ox.ac.uk/objects/uuid:2d569297-5d2a-49c8-a1ca-32a978aec49d ; https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.748726.

Council of Science Editors:

Albers PK. Rare and low-frequency variants and predisposition to complex disease. [Doctoral Dissertation]. University of Oxford; 2017. Available from: http://ora.ox.ac.uk/objects/uuid:2d569297-5d2a-49c8-a1ca-32a978aec49d ; https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.748726

29. B. Donati. IDENTIFICATION OF RARE AND COMMON GENETIC VARIANTS ASSOCIATED WITH HEPATOCELLULAR CARCINOMA IN PATIENTS WITH NONALCOHOLIC FATTY LIVER DISEASE: MECHANISMS AND CLINICAL IMPLICATIONS.

Degree: 2017, Università degli Studi di Milano

 Nonalcoholic fatty liver disease (NAFLD) affects roughly 30% of the general population and its prevalence is increasing worldwide, in particular in Western countries where it… (more)

Subjects/Keywords: Nonalcoholic fatty liver disease; hepatocellular carcinoma; common and rare germline mutations; Settore MED/09 - Medicina Interna

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

APA (6th Edition):

Donati, B. (2017). IDENTIFICATION OF RARE AND COMMON GENETIC VARIANTS ASSOCIATED WITH HEPATOCELLULAR CARCINOMA IN PATIENTS WITH NONALCOHOLIC FATTY LIVER DISEASE: MECHANISMS AND CLINICAL IMPLICATIONS. (Thesis). Università degli Studi di Milano. Retrieved from http://hdl.handle.net/2434/493452

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):

Donati, B.. “IDENTIFICATION OF RARE AND COMMON GENETIC VARIANTS ASSOCIATED WITH HEPATOCELLULAR CARCINOMA IN PATIENTS WITH NONALCOHOLIC FATTY LIVER DISEASE: MECHANISMS AND CLINICAL IMPLICATIONS.” 2017. Thesis, Università degli Studi di Milano. Accessed September 19, 2020. http://hdl.handle.net/2434/493452.

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

MLA Handbook (7th Edition):

Donati, B.. “IDENTIFICATION OF RARE AND COMMON GENETIC VARIANTS ASSOCIATED WITH HEPATOCELLULAR CARCINOMA IN PATIENTS WITH NONALCOHOLIC FATTY LIVER DISEASE: MECHANISMS AND CLINICAL IMPLICATIONS.” 2017. Web. 19 Sep 2020.

Vancouver:

Donati B. IDENTIFICATION OF RARE AND COMMON GENETIC VARIANTS ASSOCIATED WITH HEPATOCELLULAR CARCINOMA IN PATIENTS WITH NONALCOHOLIC FATTY LIVER DISEASE: MECHANISMS AND CLINICAL IMPLICATIONS. [Internet] [Thesis]. Università degli Studi di Milano; 2017. [cited 2020 Sep 19]. Available from: http://hdl.handle.net/2434/493452.

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

Council of Science Editors:

Donati B. IDENTIFICATION OF RARE AND COMMON GENETIC VARIANTS ASSOCIATED WITH HEPATOCELLULAR CARCINOMA IN PATIENTS WITH NONALCOHOLIC FATTY LIVER DISEASE: MECHANISMS AND CLINICAL IMPLICATIONS. [Thesis]. Università degli Studi di Milano; 2017. Available from: http://hdl.handle.net/2434/493452

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


University of Debrecen

30. Nguyen Thi, Hong Lien. Type1 diabetes mellitus, short stature and delayed puberty rare disease behind a case report .

Degree: DE – Általános Orvostudományi Kar, University of Debrecen

 Type 1 diabetes mellitus (T1DM) is the most common diabetes type among children, causing more than 90% of all cases of diabetes. It is one… (more)

Subjects/Keywords: short stature and delayed puberty rare disease

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

APA (6th Edition):

Nguyen Thi, H. L. (n.d.). Type1 diabetes mellitus, short stature and delayed puberty rare disease behind a case report . (Thesis). University of Debrecen. Retrieved from http://hdl.handle.net/2437/243658

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):

Nguyen Thi, Hong Lien. “Type1 diabetes mellitus, short stature and delayed puberty rare disease behind a case report .” Thesis, University of Debrecen. Accessed September 19, 2020. http://hdl.handle.net/2437/243658.

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):

Nguyen Thi, Hong Lien. “Type1 diabetes mellitus, short stature and delayed puberty rare disease behind a case report .” Web. 19 Sep 2020.

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

Vancouver:

Nguyen Thi HL. Type1 diabetes mellitus, short stature and delayed puberty rare disease behind a case report . [Internet] [Thesis]. University of Debrecen; [cited 2020 Sep 19]. Available from: http://hdl.handle.net/2437/243658.

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:

Nguyen Thi HL. Type1 diabetes mellitus, short stature and delayed puberty rare disease behind a case report . [Thesis]. University of Debrecen; Available from: http://hdl.handle.net/2437/243658

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

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