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You searched for subject:(Exome). Showing records 1 – 30 of 252 total matches.

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University of California – Irvine

1. Masters, Aneesa Soren. Exome Sequencing: Prior Testing and Patterns of Use.

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

 The purpose of this study was to examine how Whole Exome Sequencing (WES) has been used since it became clinically available in late 2011 by… (more)

Subjects/Keywords: Genetics; Exome

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

APA (6th Edition):

Masters, A. S. (2014). Exome Sequencing: Prior Testing and Patterns of Use. (Thesis). University of California – Irvine. Retrieved from http://www.escholarship.org/uc/item/32r3f66d

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):

Masters, Aneesa Soren. “Exome Sequencing: Prior Testing and Patterns of Use.” 2014. Thesis, University of California – Irvine. Accessed November 26, 2020. http://www.escholarship.org/uc/item/32r3f66d.

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

MLA Handbook (7th Edition):

Masters, Aneesa Soren. “Exome Sequencing: Prior Testing and Patterns of Use.” 2014. Web. 26 Nov 2020.

Vancouver:

Masters AS. Exome Sequencing: Prior Testing and Patterns of Use. [Internet] [Thesis]. University of California – Irvine; 2014. [cited 2020 Nov 26]. Available from: http://www.escholarship.org/uc/item/32r3f66d.

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

Council of Science Editors:

Masters AS. Exome Sequencing: Prior Testing and Patterns of Use. [Thesis]. University of California – Irvine; 2014. Available from: http://www.escholarship.org/uc/item/32r3f66d

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

2. Morales, Raul. L'apport du séquençage à haut débit dans la recherche de nouvelles associations génotype-phénotype dans les myopathies : cas particuliers des titinopathies : Analyse of results of Next Generation Sequencing from an undiagnosed muscular disease patients cohort. Titinopathies.

Degree: Docteur es, Biologie Santé, 2019, Montpellier

 L’apport du séquençage à haut débit dans la recherche de nouvelles associations génotype-phénotype. Cas particulier des titinopathies.Les myopathies sont un groupe de pathologies hétérogènes sur… (more)

Subjects/Keywords: Myopathie; Titine; Exome; Exome; Titin; Myopathy

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APA (6th Edition):

Morales, R. (2019). L'apport du séquençage à haut débit dans la recherche de nouvelles associations génotype-phénotype dans les myopathies : cas particuliers des titinopathies : Analyse of results of Next Generation Sequencing from an undiagnosed muscular disease patients cohort. Titinopathies. (Doctoral Dissertation). Montpellier. Retrieved from http://www.theses.fr/2019MONTT083

Chicago Manual of Style (16th Edition):

Morales, Raul. “L'apport du séquençage à haut débit dans la recherche de nouvelles associations génotype-phénotype dans les myopathies : cas particuliers des titinopathies : Analyse of results of Next Generation Sequencing from an undiagnosed muscular disease patients cohort. Titinopathies.” 2019. Doctoral Dissertation, Montpellier. Accessed November 26, 2020. http://www.theses.fr/2019MONTT083.

MLA Handbook (7th Edition):

Morales, Raul. “L'apport du séquençage à haut débit dans la recherche de nouvelles associations génotype-phénotype dans les myopathies : cas particuliers des titinopathies : Analyse of results of Next Generation Sequencing from an undiagnosed muscular disease patients cohort. Titinopathies.” 2019. Web. 26 Nov 2020.

Vancouver:

Morales R. L'apport du séquençage à haut débit dans la recherche de nouvelles associations génotype-phénotype dans les myopathies : cas particuliers des titinopathies : Analyse of results of Next Generation Sequencing from an undiagnosed muscular disease patients cohort. Titinopathies. [Internet] [Doctoral dissertation]. Montpellier; 2019. [cited 2020 Nov 26]. Available from: http://www.theses.fr/2019MONTT083.

Council of Science Editors:

Morales R. L'apport du séquençage à haut débit dans la recherche de nouvelles associations génotype-phénotype dans les myopathies : cas particuliers des titinopathies : Analyse of results of Next Generation Sequencing from an undiagnosed muscular disease patients cohort. Titinopathies. [Doctoral Dissertation]. Montpellier; 2019. Available from: http://www.theses.fr/2019MONTT083


University of Iowa

3. Hong, Xiaojing. Utilizing high-throughput genomics methodologies to explore transcritomes and exomes.

Degree: PhD, Biology, 2013, University of Iowa

  High-throughput genomics methodologies provide us the methods and solutions to the research fields of genomes, transcriptomes and proteomics. In my study, we utilized different… (more)

Subjects/Keywords: exome; transcriptome; Biology

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APA (6th Edition):

Hong, X. (2013). Utilizing high-throughput genomics methodologies to explore transcritomes and exomes. (Doctoral Dissertation). University of Iowa. Retrieved from https://ir.uiowa.edu/etd/1851

Chicago Manual of Style (16th Edition):

Hong, Xiaojing. “Utilizing high-throughput genomics methodologies to explore transcritomes and exomes.” 2013. Doctoral Dissertation, University of Iowa. Accessed November 26, 2020. https://ir.uiowa.edu/etd/1851.

MLA Handbook (7th Edition):

Hong, Xiaojing. “Utilizing high-throughput genomics methodologies to explore transcritomes and exomes.” 2013. Web. 26 Nov 2020.

Vancouver:

Hong X. Utilizing high-throughput genomics methodologies to explore transcritomes and exomes. [Internet] [Doctoral dissertation]. University of Iowa; 2013. [cited 2020 Nov 26]. Available from: https://ir.uiowa.edu/etd/1851.

Council of Science Editors:

Hong X. Utilizing high-throughput genomics methodologies to explore transcritomes and exomes. [Doctoral Dissertation]. University of Iowa; 2013. Available from: https://ir.uiowa.edu/etd/1851


University of California – Irvine

4. Hall, Katherine. One Family's Story: How exome sequencing opened the door to understanding and research.

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

 Often with rare genetic diseases, families must endure a frustrating, expensive, and exceptionally lengthy course to find an etiology for the clinical symptoms found in… (more)

Subjects/Keywords: Genetics; exome; NUBPL; pipeline

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APA (6th Edition):

Hall, K. (2014). One Family's Story: How exome sequencing opened the door to understanding and research. (Thesis). University of California – Irvine. Retrieved from http://www.escholarship.org/uc/item/0038j9tf

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):

Hall, Katherine. “One Family's Story: How exome sequencing opened the door to understanding and research.” 2014. Thesis, University of California – Irvine. Accessed November 26, 2020. http://www.escholarship.org/uc/item/0038j9tf.

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

MLA Handbook (7th Edition):

Hall, Katherine. “One Family's Story: How exome sequencing opened the door to understanding and research.” 2014. Web. 26 Nov 2020.

Vancouver:

Hall K. One Family's Story: How exome sequencing opened the door to understanding and research. [Internet] [Thesis]. University of California – Irvine; 2014. [cited 2020 Nov 26]. Available from: http://www.escholarship.org/uc/item/0038j9tf.

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

Council of Science Editors:

Hall K. One Family's Story: How exome sequencing opened the door to understanding and research. [Thesis]. University of California – Irvine; 2014. Available from: http://www.escholarship.org/uc/item/0038j9tf

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

5. Garret, Philippine. Approches bioinformatiques innovantes pour l’analyse de données de séquençage à haut-débit appliquées à l’étude de pathologies génétiques rares avec anomalies du développement : Innovative bioinformatics approaches for the analysis of high-throughput sequencing data applied to the study of rare genetic pathologies with developmental abnormalities.

Degree: Docteur es, Biochimie et biologie moléculaire, 2020, Bourgogne Franche-Comté

 L’avènement du séquençage haut débit d’exome (SHD-E) en diagnostic et en recherche ces dernières années a conduit à l’identification des bases génétiques de nombreuses pathologies… (more)

Subjects/Keywords: Bioinformatique; Exome; Maladies génétiques rares; Bioinformatics; Exome; Rare genetic diseases; 571.6

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APA (6th Edition):

Garret, P. (2020). Approches bioinformatiques innovantes pour l’analyse de données de séquençage à haut-débit appliquées à l’étude de pathologies génétiques rares avec anomalies du développement : Innovative bioinformatics approaches for the analysis of high-throughput sequencing data applied to the study of rare genetic pathologies with developmental abnormalities. (Doctoral Dissertation). Bourgogne Franche-Comté. Retrieved from http://www.theses.fr/2020UBFCK020

Chicago Manual of Style (16th Edition):

Garret, Philippine. “Approches bioinformatiques innovantes pour l’analyse de données de séquençage à haut-débit appliquées à l’étude de pathologies génétiques rares avec anomalies du développement : Innovative bioinformatics approaches for the analysis of high-throughput sequencing data applied to the study of rare genetic pathologies with developmental abnormalities.” 2020. Doctoral Dissertation, Bourgogne Franche-Comté. Accessed November 26, 2020. http://www.theses.fr/2020UBFCK020.

MLA Handbook (7th Edition):

Garret, Philippine. “Approches bioinformatiques innovantes pour l’analyse de données de séquençage à haut-débit appliquées à l’étude de pathologies génétiques rares avec anomalies du développement : Innovative bioinformatics approaches for the analysis of high-throughput sequencing data applied to the study of rare genetic pathologies with developmental abnormalities.” 2020. Web. 26 Nov 2020.

Vancouver:

Garret P. Approches bioinformatiques innovantes pour l’analyse de données de séquençage à haut-débit appliquées à l’étude de pathologies génétiques rares avec anomalies du développement : Innovative bioinformatics approaches for the analysis of high-throughput sequencing data applied to the study of rare genetic pathologies with developmental abnormalities. [Internet] [Doctoral dissertation]. Bourgogne Franche-Comté; 2020. [cited 2020 Nov 26]. Available from: http://www.theses.fr/2020UBFCK020.

Council of Science Editors:

Garret P. Approches bioinformatiques innovantes pour l’analyse de données de séquençage à haut-débit appliquées à l’étude de pathologies génétiques rares avec anomalies du développement : Innovative bioinformatics approaches for the analysis of high-throughput sequencing data applied to the study of rare genetic pathologies with developmental abnormalities. [Doctoral Dissertation]. Bourgogne Franche-Comté; 2020. Available from: http://www.theses.fr/2020UBFCK020

6. Sarrabay, Guillaume. Identification et caractérisation de gènes impliqués dans les maladies auto-inflammatoires : Identification and characterization of genes responsible of autoinflammatory diseases.

Degree: Docteur es, Biologie Santé, 2019, Montpellier

Les maladies auto-inflammatoires monogéniques sont des pathologies mendéliennes causées par des mutations de gènes impliqués dans l’immunité innée. Elles se traduisent chez les patients par… (more)

Subjects/Keywords: Exome; Maladie auto-Inflammatoire; Génétique; Exome; Autoinflammatory disease; Genetics

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

APA (6th Edition):

Sarrabay, G. (2019). Identification et caractérisation de gènes impliqués dans les maladies auto-inflammatoires : Identification and characterization of genes responsible of autoinflammatory diseases. (Doctoral Dissertation). Montpellier. Retrieved from http://www.theses.fr/2019MONTT081

Chicago Manual of Style (16th Edition):

Sarrabay, Guillaume. “Identification et caractérisation de gènes impliqués dans les maladies auto-inflammatoires : Identification and characterization of genes responsible of autoinflammatory diseases.” 2019. Doctoral Dissertation, Montpellier. Accessed November 26, 2020. http://www.theses.fr/2019MONTT081.

MLA Handbook (7th Edition):

Sarrabay, Guillaume. “Identification et caractérisation de gènes impliqués dans les maladies auto-inflammatoires : Identification and characterization of genes responsible of autoinflammatory diseases.” 2019. Web. 26 Nov 2020.

Vancouver:

Sarrabay G. Identification et caractérisation de gènes impliqués dans les maladies auto-inflammatoires : Identification and characterization of genes responsible of autoinflammatory diseases. [Internet] [Doctoral dissertation]. Montpellier; 2019. [cited 2020 Nov 26]. Available from: http://www.theses.fr/2019MONTT081.

Council of Science Editors:

Sarrabay G. Identification et caractérisation de gènes impliqués dans les maladies auto-inflammatoires : Identification and characterization of genes responsible of autoinflammatory diseases. [Doctoral Dissertation]. Montpellier; 2019. Available from: http://www.theses.fr/2019MONTT081


University of Cincinnati

7. 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 November 26, 2020. 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. 26 Nov 2020.

Vancouver:

Tolusso LK. Parental understanding of whole exome sequencing: A comparison of perceived and actual understanding. [Internet] [Masters thesis]. University of Cincinnati; 2016. [cited 2020 Nov 26]. 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


UCLA

8. Yourshaw, Michael. Applications of Next-Generation DNA Sequencing to the Identification of Rare Variants in Congenital Disorders of the Intestine and Brain.

Degree: Human Genetics, 2013, UCLA

 High throughput, massively parallel DNA sequencing provides a powerful technology to study the human genome and to identify variations in DNA that cause disease. Sequencing… (more)

Subjects/Keywords: Genetics; congenital diarrheal disorders; exome; pontocerebellar hypoplasia

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APA (6th Edition):

Yourshaw, M. (2013). Applications of Next-Generation DNA Sequencing to the Identification of Rare Variants in Congenital Disorders of the Intestine and Brain. (Thesis). UCLA. Retrieved from http://www.escholarship.org/uc/item/6cf2z4cq

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):

Yourshaw, Michael. “Applications of Next-Generation DNA Sequencing to the Identification of Rare Variants in Congenital Disorders of the Intestine and Brain.” 2013. Thesis, UCLA. Accessed November 26, 2020. http://www.escholarship.org/uc/item/6cf2z4cq.

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

MLA Handbook (7th Edition):

Yourshaw, Michael. “Applications of Next-Generation DNA Sequencing to the Identification of Rare Variants in Congenital Disorders of the Intestine and Brain.” 2013. Web. 26 Nov 2020.

Vancouver:

Yourshaw M. Applications of Next-Generation DNA Sequencing to the Identification of Rare Variants in Congenital Disorders of the Intestine and Brain. [Internet] [Thesis]. UCLA; 2013. [cited 2020 Nov 26]. Available from: http://www.escholarship.org/uc/item/6cf2z4cq.

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

Council of Science Editors:

Yourshaw M. Applications of Next-Generation DNA Sequencing to the Identification of Rare Variants in Congenital Disorders of the Intestine and Brain. [Thesis]. UCLA; 2013. Available from: http://www.escholarship.org/uc/item/6cf2z4cq

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


University of Toronto

9. 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 November 26, 2020. 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. 26 Nov 2020.

Vancouver:

Kanji ZS. Somatic Copy Number Aberrations in Familial Pancreatic Cancer: Integrative Genomics and Gene Discovery. [Internet] [Masters thesis]. University of Toronto; 2013. [cited 2020 Nov 26]. 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

10. Ha, Thuong Thi. The genetic basis of malformation of cortical development syndromes: primary focus on Aicardi Syndrome.

Degree: 2018, University of Adelaide

 Aicardi Syndrome is a rare neurodevelopmental disorder recognized by a classical triad of chorioretinal lacunae, infantile spasms and agenesis of the corpus callosum. The revised… (more)

Subjects/Keywords: Genetic; syndromes; neurodevelopment; Aicardi syndrome; exome; genome

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APA (6th Edition):

Ha, T. T. (2018). The genetic basis of malformation of cortical development syndromes: primary focus on Aicardi Syndrome. (Thesis). University of Adelaide. Retrieved from http://hdl.handle.net/2440/117955

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):

Ha, Thuong Thi. “The genetic basis of malformation of cortical development syndromes: primary focus on Aicardi Syndrome.” 2018. Thesis, University of Adelaide. Accessed November 26, 2020. http://hdl.handle.net/2440/117955.

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

MLA Handbook (7th Edition):

Ha, Thuong Thi. “The genetic basis of malformation of cortical development syndromes: primary focus on Aicardi Syndrome.” 2018. Web. 26 Nov 2020.

Vancouver:

Ha TT. The genetic basis of malformation of cortical development syndromes: primary focus on Aicardi Syndrome. [Internet] [Thesis]. University of Adelaide; 2018. [cited 2020 Nov 26]. Available from: http://hdl.handle.net/2440/117955.

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

Council of Science Editors:

Ha TT. The genetic basis of malformation of cortical development syndromes: primary focus on Aicardi Syndrome. [Thesis]. University of Adelaide; 2018. Available from: http://hdl.handle.net/2440/117955

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


University of Toronto

11. 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 November 26, 2020. 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. 26 Nov 2020.

Vancouver:

Rajendram R. Identification of Causal Rare Variants in an Extended Pedigree with Obsessive-compulsive Disorder. [Internet] [Masters thesis]. University of Toronto; 2014. [cited 2020 Nov 26]. 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

12. 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 November 26, 2020. 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. 26 Nov 2020.

Vancouver:

Andeer R. Coverage analysis and visualization in clinical exome sequencing. [Internet] [Thesis]. KTH; 2013. [cited 2020 Nov 26]. 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


University of Oregon

13. McCluskey, Braedan. Genome Evolution and Gene Expression Divergence in the Genus Danio.

Degree: PhD, Department of Biology, 2016, University of Oregon

 Genus Danio includes zebrafish (Danio rerio) and several other phenotypically diverse species. To understand the history of these species and how they acquired the genetic… (more)

Subjects/Keywords: Danio; Evolution; Exome; Linked selection; Phylogenomics; Zebrafish

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APA (6th Edition):

McCluskey, B. (2016). Genome Evolution and Gene Expression Divergence in the Genus Danio. (Doctoral Dissertation). University of Oregon. Retrieved from http://hdl.handle.net/1794/20484

Chicago Manual of Style (16th Edition):

McCluskey, Braedan. “Genome Evolution and Gene Expression Divergence in the Genus Danio.” 2016. Doctoral Dissertation, University of Oregon. Accessed November 26, 2020. http://hdl.handle.net/1794/20484.

MLA Handbook (7th Edition):

McCluskey, Braedan. “Genome Evolution and Gene Expression Divergence in the Genus Danio.” 2016. Web. 26 Nov 2020.

Vancouver:

McCluskey B. Genome Evolution and Gene Expression Divergence in the Genus Danio. [Internet] [Doctoral dissertation]. University of Oregon; 2016. [cited 2020 Nov 26]. Available from: http://hdl.handle.net/1794/20484.

Council of Science Editors:

McCluskey B. Genome Evolution and Gene Expression Divergence in the Genus Danio. [Doctoral Dissertation]. University of Oregon; 2016. Available from: http://hdl.handle.net/1794/20484


University of Iowa

14. 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 November 26, 2020. 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. 26 Nov 2020.

Vancouver:

Cox AJ. Whole exome analysis of individuals and families with chronic recurrent multifocal osteomyelitis (CRMO). [Internet] [Doctoral dissertation]. University of Iowa; 2016. [cited 2020 Nov 26]. 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


Universidade Estadual de Campinas

15. Borges, Murilo Guimarães, 1989-. Metodologias em bioinformática aplicadas à análise de dados de sequenciamento de alto desempenho em genética médica: Bioinformatics methodologies applied to high throughput sequencing analysis in medical genetics.

Degree: 2019, Universidade Estadual de Campinas

 Abstract: Next-generation sequencing is increasingly embedded in the clinical practice, bringing with it challenges as well. For diagnostic purposes, high-resolution sequencing methods are prioritized: either… (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: Bioinformatics methodologies applied to high throughput sequencing analysis in medical genetics. (Thesis). Universidade Estadual de Campinas. Retrieved from http://repositorio.unicamp.br/jspui/handle/REPOSIP/334837

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):

Borges, Murilo Guimarães, 1989-. “Metodologias em bioinformática aplicadas à análise de dados de sequenciamento de alto desempenho em genética médica: Bioinformatics methodologies applied to high throughput sequencing analysis in medical genetics.” 2019. Thesis, Universidade Estadual de Campinas. Accessed November 26, 2020. http://repositorio.unicamp.br/jspui/handle/REPOSIP/334837.

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

MLA Handbook (7th Edition):

Borges, Murilo Guimarães, 1989-. “Metodologias em bioinformática aplicadas à análise de dados de sequenciamento de alto desempenho em genética médica: Bioinformatics methodologies applied to high throughput sequencing analysis in medical genetics.” 2019. Web. 26 Nov 2020.

Vancouver:

Borges, Murilo Guimarães 1. Metodologias em bioinformática aplicadas à análise de dados de sequenciamento de alto desempenho em genética médica: Bioinformatics methodologies applied to high throughput sequencing analysis in medical genetics. [Internet] [Thesis]. Universidade Estadual de Campinas; 2019. [cited 2020 Nov 26]. Available from: http://repositorio.unicamp.br/jspui/handle/REPOSIP/334837.

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

Council of Science Editors:

Borges, Murilo Guimarães 1. Metodologias em bioinformática aplicadas à análise de dados de sequenciamento de alto desempenho em genética médica: Bioinformatics methodologies applied to high throughput sequencing analysis in medical genetics. [Thesis]. Universidade Estadual de Campinas; 2019. Available from: http://repositorio.unicamp.br/jspui/handle/REPOSIP/334837

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

16. Veyssiere, Maëva. Etude de la composante génétique de la Polyarthrite Rhumatoïde par séquençage d'exomes : contribution des variants rares : Study of Rheumatoid Arthritis genetic component by exome sequencing : contribution of rare variants.

Degree: Docteur es, Sciences de la vie et de la santé, 2019, Université Paris-Saclay (ComUE)

La Polyarthrite Rhumatoïde (PR) est une maladie auto-immune inflammatoire complexe qui touche près de 0,3% de la population française. A ce jour, malgré l'identification d'un… (more)

Subjects/Keywords: Exome; Variants rares; Genomique humaine; Interactions GxG; Exome; Rare variants; Human genomic; GxG interactions

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APA (6th Edition):

Veyssiere, M. (2019). Etude de la composante génétique de la Polyarthrite Rhumatoïde par séquençage d'exomes : contribution des variants rares : Study of Rheumatoid Arthritis genetic component by exome sequencing : contribution of rare variants. (Doctoral Dissertation). Université Paris-Saclay (ComUE). Retrieved from http://www.theses.fr/2019SACLE023

Chicago Manual of Style (16th Edition):

Veyssiere, Maëva. “Etude de la composante génétique de la Polyarthrite Rhumatoïde par séquençage d'exomes : contribution des variants rares : Study of Rheumatoid Arthritis genetic component by exome sequencing : contribution of rare variants.” 2019. Doctoral Dissertation, Université Paris-Saclay (ComUE). Accessed November 26, 2020. http://www.theses.fr/2019SACLE023.

MLA Handbook (7th Edition):

Veyssiere, Maëva. “Etude de la composante génétique de la Polyarthrite Rhumatoïde par séquençage d'exomes : contribution des variants rares : Study of Rheumatoid Arthritis genetic component by exome sequencing : contribution of rare variants.” 2019. Web. 26 Nov 2020.

Vancouver:

Veyssiere M. Etude de la composante génétique de la Polyarthrite Rhumatoïde par séquençage d'exomes : contribution des variants rares : Study of Rheumatoid Arthritis genetic component by exome sequencing : contribution of rare variants. [Internet] [Doctoral dissertation]. Université Paris-Saclay (ComUE); 2019. [cited 2020 Nov 26]. Available from: http://www.theses.fr/2019SACLE023.

Council of Science Editors:

Veyssiere M. Etude de la composante génétique de la Polyarthrite Rhumatoïde par séquençage d'exomes : contribution des variants rares : Study of Rheumatoid Arthritis genetic component by exome sequencing : contribution of rare variants. [Doctoral Dissertation]. Université Paris-Saclay (ComUE); 2019. Available from: http://www.theses.fr/2019SACLE023


University of Helsinki

17. 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 November 26, 2020. http://hdl.handle.net/10138/236385.

MLA Handbook (7th Edition):

Hinterding, Helena. “Novel disease genes for childhood-onset cardiomyopathy.” 2018. Web. 26 Nov 2020.

Vancouver:

Hinterding H. Novel disease genes for childhood-onset cardiomyopathy. [Internet] [Masters thesis]. University of Helsinki; 2018. [cited 2020 Nov 26]. 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

18. Marlin, Régine. Apport du séquençage pangénomique pour l'identification des prédispositions héréditaires aux cancers : Sequencing the genome-wide contribution to the identification of inherited predisposition to cancer.

Degree: Docteur es, Physiologie et biologie des organismes – Populations – Interactions, 2015, Antilles

Ce travail de thèse illustre l’intérêt d’utiliser le séquençage de nouvelle génération (Next- Generation Sequencing ou NGS) pour améliorer le diagnostic moléculaire des formes de… (more)

Subjects/Keywords: Prédisposition aux cancers; Séquençage haut-débit; Panel de gènes; Exome; Capture ciblée; Next-Generation sequencing; Cancer Predisposition; Gene Panel; Exome

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APA (6th Edition):

Marlin, R. (2015). Apport du séquençage pangénomique pour l'identification des prédispositions héréditaires aux cancers : Sequencing the genome-wide contribution to the identification of inherited predisposition to cancer. (Doctoral Dissertation). Antilles. Retrieved from http://www.theses.fr/2015ANTI0005

Chicago Manual of Style (16th Edition):

Marlin, Régine. “Apport du séquençage pangénomique pour l'identification des prédispositions héréditaires aux cancers : Sequencing the genome-wide contribution to the identification of inherited predisposition to cancer.” 2015. Doctoral Dissertation, Antilles. Accessed November 26, 2020. http://www.theses.fr/2015ANTI0005.

MLA Handbook (7th Edition):

Marlin, Régine. “Apport du séquençage pangénomique pour l'identification des prédispositions héréditaires aux cancers : Sequencing the genome-wide contribution to the identification of inherited predisposition to cancer.” 2015. Web. 26 Nov 2020.

Vancouver:

Marlin R. Apport du séquençage pangénomique pour l'identification des prédispositions héréditaires aux cancers : Sequencing the genome-wide contribution to the identification of inherited predisposition to cancer. [Internet] [Doctoral dissertation]. Antilles; 2015. [cited 2020 Nov 26]. Available from: http://www.theses.fr/2015ANTI0005.

Council of Science Editors:

Marlin R. Apport du séquençage pangénomique pour l'identification des prédispositions héréditaires aux cancers : Sequencing the genome-wide contribution to the identification of inherited predisposition to cancer. [Doctoral Dissertation]. Antilles; 2015. Available from: http://www.theses.fr/2015ANTI0005

19. Miltgen, Morgane. Hétérogénéité génétique et allélique des dystonies, recherche de gènes candidats et validation fonctionnelle : Genetic and allelic heterogeneity of dystonia, gene hunting and functional validation.

Degree: Docteur es, Pathologie humaine. Génétique humaine, 2016, Aix Marseille Université

La dystonie est une pathologie du contrôle du mouvement caractérisée par des contractions musculaires involontaires. Les causes génétiques de cette pathologie sont multiples. J’ai créé… (more)

Subjects/Keywords: Dystonie; Génétique; Bioinformatique; Base de données; Thap1; Exome; Plasticité; Dystonia; Genetics; Bioinformatics; Database; Thap1; Exome; Plasticity

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APA (6th Edition):

Miltgen, M. (2016). Hétérogénéité génétique et allélique des dystonies, recherche de gènes candidats et validation fonctionnelle : Genetic and allelic heterogeneity of dystonia, gene hunting and functional validation. (Doctoral Dissertation). Aix Marseille Université. Retrieved from http://www.theses.fr/2016AIXM5063

Chicago Manual of Style (16th Edition):

Miltgen, Morgane. “Hétérogénéité génétique et allélique des dystonies, recherche de gènes candidats et validation fonctionnelle : Genetic and allelic heterogeneity of dystonia, gene hunting and functional validation.” 2016. Doctoral Dissertation, Aix Marseille Université. Accessed November 26, 2020. http://www.theses.fr/2016AIXM5063.

MLA Handbook (7th Edition):

Miltgen, Morgane. “Hétérogénéité génétique et allélique des dystonies, recherche de gènes candidats et validation fonctionnelle : Genetic and allelic heterogeneity of dystonia, gene hunting and functional validation.” 2016. Web. 26 Nov 2020.

Vancouver:

Miltgen M. Hétérogénéité génétique et allélique des dystonies, recherche de gènes candidats et validation fonctionnelle : Genetic and allelic heterogeneity of dystonia, gene hunting and functional validation. [Internet] [Doctoral dissertation]. Aix Marseille Université 2016. [cited 2020 Nov 26]. Available from: http://www.theses.fr/2016AIXM5063.

Council of Science Editors:

Miltgen M. Hétérogénéité génétique et allélique des dystonies, recherche de gènes candidats et validation fonctionnelle : Genetic and allelic heterogeneity of dystonia, gene hunting and functional validation. [Doctoral Dissertation]. Aix Marseille Université 2016. Available from: http://www.theses.fr/2016AIXM5063

20. Bouazzi, Habib. Contribution à l'identification de nouveaux gènes impliqués dans la Déficience intellectuelle liée au Sexe(X-LID) par séquençage à haut débit de l’exome du chromosome X avec la technologie SOLiD : Contribution to the identification of new genes involved in X-Linked Intellectual Deficiency using SOLiD Next Generation Sequencing technique applied to X exome.

Degree: Docteur es, Génétique moléculaire, 2016, Sorbonne Paris Cité

La Déficience Intellectuelle liée au chromosome X (X-LID), anciennement appelée RMLX (retard mental lié au chromosome X) est une pathologie fréquente (3 % de la… (more)

Subjects/Keywords: Déficience intellectuelle; Syndromique; Inactivation; Séquençage; Exome; Mutation; QI; Intellectual deficiency; Syndromic and non-syndromic; Inactivation; Sequencing; Exome; Mutation; IQ; 572.8

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APA (6th Edition):

Bouazzi, H. (2016). Contribution à l'identification de nouveaux gènes impliqués dans la Déficience intellectuelle liée au Sexe(X-LID) par séquençage à haut débit de l’exome du chromosome X avec la technologie SOLiD : Contribution to the identification of new genes involved in X-Linked Intellectual Deficiency using SOLiD Next Generation Sequencing technique applied to X exome. (Doctoral Dissertation). Sorbonne Paris Cité. Retrieved from http://www.theses.fr/2016USPCB009

Chicago Manual of Style (16th Edition):

Bouazzi, Habib. “Contribution à l'identification de nouveaux gènes impliqués dans la Déficience intellectuelle liée au Sexe(X-LID) par séquençage à haut débit de l’exome du chromosome X avec la technologie SOLiD : Contribution to the identification of new genes involved in X-Linked Intellectual Deficiency using SOLiD Next Generation Sequencing technique applied to X exome.” 2016. Doctoral Dissertation, Sorbonne Paris Cité. Accessed November 26, 2020. http://www.theses.fr/2016USPCB009.

MLA Handbook (7th Edition):

Bouazzi, Habib. “Contribution à l'identification de nouveaux gènes impliqués dans la Déficience intellectuelle liée au Sexe(X-LID) par séquençage à haut débit de l’exome du chromosome X avec la technologie SOLiD : Contribution to the identification of new genes involved in X-Linked Intellectual Deficiency using SOLiD Next Generation Sequencing technique applied to X exome.” 2016. Web. 26 Nov 2020.

Vancouver:

Bouazzi H. Contribution à l'identification de nouveaux gènes impliqués dans la Déficience intellectuelle liée au Sexe(X-LID) par séquençage à haut débit de l’exome du chromosome X avec la technologie SOLiD : Contribution to the identification of new genes involved in X-Linked Intellectual Deficiency using SOLiD Next Generation Sequencing technique applied to X exome. [Internet] [Doctoral dissertation]. Sorbonne Paris Cité; 2016. [cited 2020 Nov 26]. Available from: http://www.theses.fr/2016USPCB009.

Council of Science Editors:

Bouazzi H. Contribution à l'identification de nouveaux gènes impliqués dans la Déficience intellectuelle liée au Sexe(X-LID) par séquençage à haut débit de l’exome du chromosome X avec la technologie SOLiD : Contribution to the identification of new genes involved in X-Linked Intellectual Deficiency using SOLiD Next Generation Sequencing technique applied to X exome. [Doctoral Dissertation]. Sorbonne Paris Cité; 2016. Available from: http://www.theses.fr/2016USPCB009

21. Lacoste Deixonne, Caroline. Apport du séquençage haut débit dans l'amélioration de la prise en charge des maladies monogéniques : Stabilité du sillage d'un corps auto-propulsé.

Degree: Docteur es, Pathologie humaine. Génétique humaine, 2016, Aix Marseille Université

La diffusion du séquençage haut débit (ou NGS pour Next Generation Sequencing) représente un tel changement d’échelle par rapport aux méthodes classiques de séquençage que… (more)

Subjects/Keywords: Maladies rares; Séquençage haut débit; Ngs; Diagnostic; Panel de gènes; Exome; Next Generation Sequencing; Ngs; Exome; Panel; Genetic disease; Diagnostic approach

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APA (6th Edition):

Lacoste Deixonne, C. (2016). Apport du séquençage haut débit dans l'amélioration de la prise en charge des maladies monogéniques : Stabilité du sillage d'un corps auto-propulsé. (Doctoral Dissertation). Aix Marseille Université. Retrieved from http://www.theses.fr/2016AIXM5062

Chicago Manual of Style (16th Edition):

Lacoste Deixonne, Caroline. “Apport du séquençage haut débit dans l'amélioration de la prise en charge des maladies monogéniques : Stabilité du sillage d'un corps auto-propulsé.” 2016. Doctoral Dissertation, Aix Marseille Université. Accessed November 26, 2020. http://www.theses.fr/2016AIXM5062.

MLA Handbook (7th Edition):

Lacoste Deixonne, Caroline. “Apport du séquençage haut débit dans l'amélioration de la prise en charge des maladies monogéniques : Stabilité du sillage d'un corps auto-propulsé.” 2016. Web. 26 Nov 2020.

Vancouver:

Lacoste Deixonne C. Apport du séquençage haut débit dans l'amélioration de la prise en charge des maladies monogéniques : Stabilité du sillage d'un corps auto-propulsé. [Internet] [Doctoral dissertation]. Aix Marseille Université 2016. [cited 2020 Nov 26]. Available from: http://www.theses.fr/2016AIXM5062.

Council of Science Editors:

Lacoste Deixonne C. Apport du séquençage haut débit dans l'amélioration de la prise en charge des maladies monogéniques : Stabilité du sillage d'un corps auto-propulsé. [Doctoral Dissertation]. Aix Marseille Université 2016. Available from: http://www.theses.fr/2016AIXM5062

22. Piard, Juliette. Déficience intellectuelle : identification de nouveaux gènes par une approche multicentrique : Intellectual diability : discovery of new genes by a multicentre approach.

Degree: Docteur es, Sciences de la vie et de la santé. Médecine, cancérologie, génétique, hématologie, immunologie, 2018, Bourgogne Franche-Comté

La déficience intellectuelle (DI) touche 1 à 3% de la population générale avec un excès de sujets de sexe masculin. Cette affection est caractérisée par… (more)

Subjects/Keywords: Déficience Intellectuelle; CGH-Array; Exome; Cdk10; Frmpd4; Atad1; Intellectual disability; Array-CGH; Exome; Cdk10; Frmpd4; Atad1; 576; WM 300

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APA (6th Edition):

Piard, J. (2018). Déficience intellectuelle : identification de nouveaux gènes par une approche multicentrique : Intellectual diability : discovery of new genes by a multicentre approach. (Doctoral Dissertation). Bourgogne Franche-Comté. Retrieved from http://www.theses.fr/2018UBFCE005

Chicago Manual of Style (16th Edition):

Piard, Juliette. “Déficience intellectuelle : identification de nouveaux gènes par une approche multicentrique : Intellectual diability : discovery of new genes by a multicentre approach.” 2018. Doctoral Dissertation, Bourgogne Franche-Comté. Accessed November 26, 2020. http://www.theses.fr/2018UBFCE005.

MLA Handbook (7th Edition):

Piard, Juliette. “Déficience intellectuelle : identification de nouveaux gènes par une approche multicentrique : Intellectual diability : discovery of new genes by a multicentre approach.” 2018. Web. 26 Nov 2020.

Vancouver:

Piard J. Déficience intellectuelle : identification de nouveaux gènes par une approche multicentrique : Intellectual diability : discovery of new genes by a multicentre approach. [Internet] [Doctoral dissertation]. Bourgogne Franche-Comté; 2018. [cited 2020 Nov 26]. Available from: http://www.theses.fr/2018UBFCE005.

Council of Science Editors:

Piard J. Déficience intellectuelle : identification de nouveaux gènes par une approche multicentrique : Intellectual diability : discovery of new genes by a multicentre approach. [Doctoral Dissertation]. Bourgogne Franche-Comté; 2018. Available from: http://www.theses.fr/2018UBFCE005


UCLA

23. 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 (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 November 26, 2020. 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. 26 Nov 2020.

Vancouver:

Gupta P. Translating Mouse Systems Genetics to Discovery in Human Disease. [Internet] [Thesis]. UCLA; 2017. [cited 2020 Nov 26]. 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

24. 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 (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 November 26, 2020. 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. 26 Nov 2020.

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 2020 Nov 26]. 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

25. Mouden, Charlotte. Holoprosencéphalie : identification de nouveaux gènes et redéfinition du mode de transmission par des approches de séquençage haut-débit : Holoprosencephaly : identification of new genes and redefinition of the inheritance pattern usinghigh-throughput sequencing approaches.

Degree: Docteur es, Biologie, 2016, Rennes 1

L’holoprosencéphalie (HPE) est la malformation congénitale cérébrale la plus fréquente chez l’Homme. Elle est caractérisée par une non-séparation plus ou moins importante des hémisphères cérébraux.… (more)

Subjects/Keywords: Holoprosencéphalie; Exome; Stil; Multigénisme; Holoprosencephaly; Wes; Stil; Multigénisme

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APA (6th Edition):

Mouden, C. (2016). Holoprosencéphalie : identification de nouveaux gènes et redéfinition du mode de transmission par des approches de séquençage haut-débit : Holoprosencephaly : identification of new genes and redefinition of the inheritance pattern usinghigh-throughput sequencing approaches. (Doctoral Dissertation). Rennes 1. Retrieved from http://www.theses.fr/2016REN1B012

Chicago Manual of Style (16th Edition):

Mouden, Charlotte. “Holoprosencéphalie : identification de nouveaux gènes et redéfinition du mode de transmission par des approches de séquençage haut-débit : Holoprosencephaly : identification of new genes and redefinition of the inheritance pattern usinghigh-throughput sequencing approaches.” 2016. Doctoral Dissertation, Rennes 1. Accessed November 26, 2020. http://www.theses.fr/2016REN1B012.

MLA Handbook (7th Edition):

Mouden, Charlotte. “Holoprosencéphalie : identification de nouveaux gènes et redéfinition du mode de transmission par des approches de séquençage haut-débit : Holoprosencephaly : identification of new genes and redefinition of the inheritance pattern usinghigh-throughput sequencing approaches.” 2016. Web. 26 Nov 2020.

Vancouver:

Mouden C. Holoprosencéphalie : identification de nouveaux gènes et redéfinition du mode de transmission par des approches de séquençage haut-débit : Holoprosencephaly : identification of new genes and redefinition of the inheritance pattern usinghigh-throughput sequencing approaches. [Internet] [Doctoral dissertation]. Rennes 1; 2016. [cited 2020 Nov 26]. Available from: http://www.theses.fr/2016REN1B012.

Council of Science Editors:

Mouden C. Holoprosencéphalie : identification de nouveaux gènes et redéfinition du mode de transmission par des approches de séquençage haut-débit : Holoprosencephaly : identification of new genes and redefinition of the inheritance pattern usinghigh-throughput sequencing approaches. [Doctoral Dissertation]. Rennes 1; 2016. Available from: http://www.theses.fr/2016REN1B012

26. Souza, Bruno Batista, 1983-. Aspectos genéticos do glaucoma primário de ângulo fechado: Genetic aspects of primary angle closure glaucoma.

Degree: 2017, Universidade Estadual de Campinas

 Abstract: Glaucoma is the leading cause of irreversible blindness worldwide, affecting approximately 70 million individuals, with at least 6.8 million people presenting bilateral blindness. The… (more)

Subjects/Keywords: Glaucoma; Exoma; Glaucoma; Exome

…families harboring PACG has been performed through exome sequencing. Our results showed no… …clinical forms. The exome study could not detect which gene might be responsible for the… 

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

APA (6th Edition):

Souza, Bruno Batista, 1. (2017). Aspectos genéticos do glaucoma primário de ângulo fechado: Genetic aspects of primary angle closure glaucoma. (Thesis). Universidade Estadual de Campinas. Retrieved from http://repositorio.unicamp.br/jspui/handle/REPOSIP/330469

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):

Souza, Bruno Batista, 1983-. “Aspectos genéticos do glaucoma primário de ângulo fechado: Genetic aspects of primary angle closure glaucoma.” 2017. Thesis, Universidade Estadual de Campinas. Accessed November 26, 2020. http://repositorio.unicamp.br/jspui/handle/REPOSIP/330469.

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

MLA Handbook (7th Edition):

Souza, Bruno Batista, 1983-. “Aspectos genéticos do glaucoma primário de ângulo fechado: Genetic aspects of primary angle closure glaucoma.” 2017. Web. 26 Nov 2020.

Vancouver:

Souza, Bruno Batista 1. Aspectos genéticos do glaucoma primário de ângulo fechado: Genetic aspects of primary angle closure glaucoma. [Internet] [Thesis]. Universidade Estadual de Campinas; 2017. [cited 2020 Nov 26]. Available from: http://repositorio.unicamp.br/jspui/handle/REPOSIP/330469.

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

Council of Science Editors:

Souza, Bruno Batista 1. Aspectos genéticos do glaucoma primário de ângulo fechado: Genetic aspects of primary angle closure glaucoma. [Thesis]. Universidade Estadual de Campinas; 2017. Available from: http://repositorio.unicamp.br/jspui/handle/REPOSIP/330469

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


Vanderbilt University

27. 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 November 26, 2020. 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. 26 Nov 2020.

Vancouver:

McElroy JJ. Genetics of spontaneous idiopathic preterm birth: exploration of maternal and fetal genomes. [Internet] [Doctoral dissertation]. Vanderbilt University; 2013. [cited 2020 Nov 26]. 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

28. 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 November 26, 2020. 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. 26 Nov 2020.

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 2020 Nov 26]. 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

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

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 November 26, 2020. 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. 26 Nov 2020.

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 2020 Nov 26]. 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


Boston University

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

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 November 26, 2020. 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. 26 Nov 2020.

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 2020 Nov 26]. 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

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