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Showing results (111-120 of 157) with videos related to

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BMC Medical Genetics|July 18, 2014
Copy number variants (CNVs) analysis in a deeply phenotyped cohort of individuals with intellectual disability (ID)Ying Qiao, Eloi Mercier, Jila Dastan, et al.
Seminars in Cell & Developmental Biology|May 22, 2018
The developmental-genetics of canalizationBenedikt Hallgrimsson, Rebecca M Green, David C Katz, et al.
Journal of Medical Genetics|August 5, 2016
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorderStephen J Mosca, Lisa Marie Langevin, Deborah Dewey, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 27, 2019
The value of diagnostic testing for parents of children with rare genetic diseasesDeborah A Marshall, Karen V MacDonald, Sebastian Heidenreich, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 19, 2019
Correction: The value of diagnostic testing for parents of children with rare genetic diseasesDeborah A Marshall, Karen V MacDonald, Sebastian Heidenreich, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 11, 2026
Clinical Utility of Exome Sequencing: Post-Exome Testing Decision Changes in the Management of Children with Suspected Rare Genetic DiseaseToni Tagimacruz, Trevor Adam Seeger, Koen Degeling, et al.
Journal of Autism and Developmental Disorders|June 18, 2013
The changing prevalence of autism in three regions of CanadaHélène Ouellette-Kuntz, Helen Coo, Miu Lam, et al.
G3 (Bethesda, Md.)|March 24, 2022
Hnrnpul1 controls transcription, splicing, and modulates skeletal and limb development in vivoDanielle L Blackwell, Sherri D Fraser, Oana Caluseriu, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
The complexity of diagnosing rare disease: An organizing framework for outcomes research and health economics based on real-world evidenceRobin Z Hayeems, Christine Michaels-Igbokwe, Viji Venkataramanan, et al.
Human Mutation|July 16, 2015
GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPKP Y Billie Au, Jing You, Oana Caluseriu, et al.
Pageof 16

Showing results (111-120 of 157) with videos related to

Sort By:
Pageof 16
BMC Medical Genetics|July 18, 2014
Copy number variants (CNVs) analysis in a deeply phenotyped cohort of individuals with intellectual disability (ID)Ying Qiao, Eloi Mercier, Jila Dastan, et al.
Seminars in Cell & Developmental Biology|May 22, 2018
The developmental-genetics of canalizationBenedikt Hallgrimsson, Rebecca M Green, David C Katz, et al.
Journal of Medical Genetics|August 5, 2016
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorderStephen J Mosca, Lisa Marie Langevin, Deborah Dewey, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 27, 2019
The value of diagnostic testing for parents of children with rare genetic diseasesDeborah A Marshall, Karen V MacDonald, Sebastian Heidenreich, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 19, 2019
Correction: The value of diagnostic testing for parents of children with rare genetic diseasesDeborah A Marshall, Karen V MacDonald, Sebastian Heidenreich, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 11, 2026
Clinical Utility of Exome Sequencing: Post-Exome Testing Decision Changes in the Management of Children with Suspected Rare Genetic DiseaseToni Tagimacruz, Trevor Adam Seeger, Koen Degeling, et al.
Journal of Autism and Developmental Disorders|June 18, 2013
The changing prevalence of autism in three regions of CanadaHélène Ouellette-Kuntz, Helen Coo, Miu Lam, et al.
G3 (Bethesda, Md.)|March 24, 2022
Hnrnpul1 controls transcription, splicing, and modulates skeletal and limb development in vivoDanielle L Blackwell, Sherri D Fraser, Oana Caluseriu, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
The complexity of diagnosing rare disease: An organizing framework for outcomes research and health economics based on real-world evidenceRobin Z Hayeems, Christine Michaels-Igbokwe, Viji Venkataramanan, et al.
Human Mutation|July 16, 2015
GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPKP Y Billie Au, Jing You, Oana Caluseriu, et al.
Pageof 16