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Kym M Boycott

Showing results (141-150 of 239) with videos related to

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American Journal of Human Genetics|December 20, 2011
Mutations in EZH2 cause Weaver syndromeWilliam T Gibson, Rebecca L Hood, Shing Hei Zhan, 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.
Pharmacoeconomics|April 7, 2023
Developing a Framework of Cost Elements of Socioeconomic Burden of Rare Disease: A Scoping ReviewGillian R Currie, Brittany Gerber, Diane Lorenzetti, et al.
American Journal of Human Genetics|July 6, 2026
Bi-allelic variants in CDK20 cause a severe ciliopathy with midline brain and facial anomaliesGabrielle Lemire, Aren E Marshall, Tejan S Patel, et al.
Genetics|October 25, 2017
Pyridoxine-Dependent Epilepsy in Zebrafish Caused by Aldh7a1 DeficiencyIzabella A Pena, Yann Roussel, Kate Daniel, et al.
European Journal of Human Genetics : EJHG|August 10, 2019
Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalitiesRenee Bend, Lior Cohen, Melissa T Carter, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|November 28, 2025
Loss-of-Function Variants in CPT1C: No Support for a Causal Role in Hereditary Spastic ParaplegiaRui Zhu, Lang Liu, Mehrdad A Estiar, et al.
Journal of Inherited Metabolic Disease|January 25, 2018
The role of the clinician in the multi-omics era: are you ready?Clara D M van Karnebeek, Saskia B Wortmann, Maja Tarailo-Graovac, et al.
Neurology. Genetics|January 18, 2024
Biallelic <i>SOX8</i> Variants Associated With Novel Syndrome With Myopathy, Skeletal Deformities, Intellectual Disability, and Ovarian DysfunctionJodi Warman-Chardon, Taila Hartley, Aren Elizabeth Marshall, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 4, 2020
Assessing non-Mendelian inheritance in inherited axonopathiesDana M Bis-Brewer, Ziv Gan-Or, Patrick Sleiman, et al.
Pageof 24

Showing results (141-150 of 239) with videos related to

Sort By:
Pageof 24
American Journal of Human Genetics|December 20, 2011
Mutations in EZH2 cause Weaver syndromeWilliam T Gibson, Rebecca L Hood, Shing Hei Zhan, 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.
Pharmacoeconomics|April 7, 2023
Developing a Framework of Cost Elements of Socioeconomic Burden of Rare Disease: A Scoping ReviewGillian R Currie, Brittany Gerber, Diane Lorenzetti, et al.
American Journal of Human Genetics|July 6, 2026
Bi-allelic variants in CDK20 cause a severe ciliopathy with midline brain and facial anomaliesGabrielle Lemire, Aren E Marshall, Tejan S Patel, et al.
Genetics|October 25, 2017
Pyridoxine-Dependent Epilepsy in Zebrafish Caused by Aldh7a1 DeficiencyIzabella A Pena, Yann Roussel, Kate Daniel, et al.
European Journal of Human Genetics : EJHG|August 10, 2019
Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalitiesRenee Bend, Lior Cohen, Melissa T Carter, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|November 28, 2025
Loss-of-Function Variants in CPT1C: No Support for a Causal Role in Hereditary Spastic ParaplegiaRui Zhu, Lang Liu, Mehrdad A Estiar, et al.
Journal of Inherited Metabolic Disease|January 25, 2018
The role of the clinician in the multi-omics era: are you ready?Clara D M van Karnebeek, Saskia B Wortmann, Maja Tarailo-Graovac, et al.
Neurology. Genetics|January 18, 2024
Biallelic <i>SOX8</i> Variants Associated With Novel Syndrome With Myopathy, Skeletal Deformities, Intellectual Disability, and Ovarian DysfunctionJodi Warman-Chardon, Taila Hartley, Aren Elizabeth Marshall, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 4, 2020
Assessing non-Mendelian inheritance in inherited axonopathiesDana M Bis-Brewer, Ziv Gan-Or, Patrick Sleiman, et al.
Pageof 24