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David Dyment

Showing results (11-20 of 33) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 3, 2024
The Clinician-reported Genetic Testing Utility Index (C-GUIDE) for Prenatal Care: Initial evidence of content and construct validityRobin Z Hayeems, Stephanie Luca, Bowen Xiao, et al.
Brain : a Journal of Neurology|November 30, 2017
A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophyCas Simons, David Dyment, Stephen J Bent, et al.
Human Mutation|October 11, 2013
Exome sequencing as a diagnostic tool for pediatric-onset ataxiaSarah L Sawyer, Jeremy Schwartzentruber, Chandree L Beaulieu, et al.
Frontiers in Cell and Developmental Biology|March 9, 2026
Integrative epigenetic and transcriptomic profiling of whole blood and fibroblasts in Hao-Fountain syndromeLiselot van der Laan, Rob Zwart, Andrea Venema, et al.
Annals of Clinical and Translational Neurology|April 7, 2025
FGF14 GAA Intronic Expansion in Unsolved Adult-Onset Ataxia in the Care4Rare Canada ConsortiumAlexanne Cuillerier, Giulia F Del Gobbo, Layla Mackay, et al.
Human Mutation|October 13, 2018
The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteriaIngo Helbig, Erin Rooney Riggs, Carrie-Anne Barry, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 21, 2017
Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesisSarah Boissel, Catherine Fallet-Bianco, David Chitayat, et al.
Annals of Neurology|January 3, 2025
Phenotype Spectrum of TRPM3-Associated DisordersLaura Jolitz, Ingo Helbig, Mark P Fitzgerald, et al.
American Journal of Human Genetics|June 7, 2014
FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery projectChandree L Beaulieu, Jacek Majewski, Jeremy Schwartzentruber, et al.
Elife|January 17, 2023
Gain-of-function variants in the ion channel gene <i>TRPM3</i> underlie a spectrum of neurodevelopmental disordersLydie Burglen, Evelien Van Hoeymissen, Leila Qebibo, et al.
Pageof 4

Showing results (11-20 of 33) with videos related to

Sort By:
Pageof 4
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 3, 2024
The Clinician-reported Genetic Testing Utility Index (C-GUIDE) for Prenatal Care: Initial evidence of content and construct validityRobin Z Hayeems, Stephanie Luca, Bowen Xiao, et al.
Brain : a Journal of Neurology|November 30, 2017
A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophyCas Simons, David Dyment, Stephen J Bent, et al.
Human Mutation|October 11, 2013
Exome sequencing as a diagnostic tool for pediatric-onset ataxiaSarah L Sawyer, Jeremy Schwartzentruber, Chandree L Beaulieu, et al.
Frontiers in Cell and Developmental Biology|March 9, 2026
Integrative epigenetic and transcriptomic profiling of whole blood and fibroblasts in Hao-Fountain syndromeLiselot van der Laan, Rob Zwart, Andrea Venema, et al.
Annals of Clinical and Translational Neurology|April 7, 2025
FGF14 GAA Intronic Expansion in Unsolved Adult-Onset Ataxia in the Care4Rare Canada ConsortiumAlexanne Cuillerier, Giulia F Del Gobbo, Layla Mackay, et al.
Human Mutation|October 13, 2018
The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteriaIngo Helbig, Erin Rooney Riggs, Carrie-Anne Barry, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 21, 2017
Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesisSarah Boissel, Catherine Fallet-Bianco, David Chitayat, et al.
Annals of Neurology|January 3, 2025
Phenotype Spectrum of TRPM3-Associated DisordersLaura Jolitz, Ingo Helbig, Mark P Fitzgerald, et al.
American Journal of Human Genetics|June 7, 2014
FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery projectChandree L Beaulieu, Jacek Majewski, Jeremy Schwartzentruber, et al.
Elife|January 17, 2023
Gain-of-function variants in the ion channel gene <i>TRPM3</i> underlie a spectrum of neurodevelopmental disordersLydie Burglen, Evelien Van Hoeymissen, Leila Qebibo, et al.
Pageof 4