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Kym M Boycott

Showing results (161-170 of 239) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 25, 2025
A Microcosting and Cost Consequence Analysis from a Randomized Controlled Trial Comparing Genome Sequencing to Exome Sequencing for Genetic DiagnosisWendy J Ungar, Vercancy Wu, Christian R Marshall, 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.
Movement Disorders : Official Journal of the Movement Disorder Society|February 18, 2021
Evidence for Non-Mendelian Inheritance in Spastic Paraplegia 7Mehrdad A Estiar, Eric Yu, Ikhlass Haj Salem, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 14, 2025
Comparing the performance of exome and genome sequencing for rare disease diagnostics: A randomized implementation effectiveness trialRobin Z Hayeems, Wendy J Ungar, Christian R Marshall, et al.
American Journal of Human Genetics|July 3, 2018
De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with SeizuresYoko Ito, Keren J Carss, Sofia T Duarte, et al.
American Journal of Human Genetics|March 20, 2012
Mutations in C5ORF42 cause Joubert syndrome in the French Canadian populationMyriam Srour, Jeremy Schwartzentruber, Fadi F Hamdan, et al.
American Journal of Human Genetics|August 9, 2014
Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophyKimberly A Aldinger, Stephen J Mosca, Martine Tétreault, et al.
Biorxiv : the Preprint Server for Biology|July 10, 2023
A common flanking variant is associated with enhanced meiotic stability of the <i>FGF14</i> -SCA27B locusDavid Pellerin, Giulia Del Gobbo, Madeline Couse, et al.
Neurology. Genetics|December 14, 2016
Clinical and genetic study of hereditary spastic paraplegia in CanadaNicolas Chrestian, Nicolas Dupré, Ziv Gan-Or, et al.
American Journal of Human Genetics|July 2, 2013
Mutations in PIK3R1 cause SHORT syndromeDavid A Dyment, Amanda C Smith, Diana Alcantara, et al.
Pageof 24

Showing results (161-170 of 239) with videos related to

Sort By:
Pageof 24
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 25, 2025
A Microcosting and Cost Consequence Analysis from a Randomized Controlled Trial Comparing Genome Sequencing to Exome Sequencing for Genetic DiagnosisWendy J Ungar, Vercancy Wu, Christian R Marshall, 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.
Movement Disorders : Official Journal of the Movement Disorder Society|February 18, 2021
Evidence for Non-Mendelian Inheritance in Spastic Paraplegia 7Mehrdad A Estiar, Eric Yu, Ikhlass Haj Salem, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 14, 2025
Comparing the performance of exome and genome sequencing for rare disease diagnostics: A randomized implementation effectiveness trialRobin Z Hayeems, Wendy J Ungar, Christian R Marshall, et al.
American Journal of Human Genetics|July 3, 2018
De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with SeizuresYoko Ito, Keren J Carss, Sofia T Duarte, et al.
American Journal of Human Genetics|March 20, 2012
Mutations in C5ORF42 cause Joubert syndrome in the French Canadian populationMyriam Srour, Jeremy Schwartzentruber, Fadi F Hamdan, et al.
American Journal of Human Genetics|August 9, 2014
Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophyKimberly A Aldinger, Stephen J Mosca, Martine Tétreault, et al.
Biorxiv : the Preprint Server for Biology|July 10, 2023
A common flanking variant is associated with enhanced meiotic stability of the <i>FGF14</i> -SCA27B locusDavid Pellerin, Giulia Del Gobbo, Madeline Couse, et al.
Neurology. Genetics|December 14, 2016
Clinical and genetic study of hereditary spastic paraplegia in CanadaNicolas Chrestian, Nicolas Dupré, Ziv Gan-Or, et al.
American Journal of Human Genetics|July 2, 2013
Mutations in PIK3R1 cause SHORT syndromeDavid A Dyment, Amanda C Smith, Diana Alcantara, et al.
Pageof 24