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Kym M Boycott

Showing results (61-70 of 239) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 26, 2025
ThinkRare: A search algorithm to identify patients with undiagnosed rare genetic disease in an electronic medical recordGrace U Ediae, Alexandre White-Brown, Caitlin Chisholm, et al.
Scientific Reports|December 10, 2016
The defining DNA methylation signature of Floating-Harbor SyndromeRebecca L Hood, Laila C Schenkel, Sarah M Nikkel, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|September 3, 2024
IRF2BPL-Related Disorder, Causing Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech and Seizures (NEDAMSS) Is Characterized by Pathology Consistent with DRPLASunita Venkateswaran, Jean Michaud, Yoko Ito, et al.
Child Neurology Open|November 19, 2021
Neurophysiological Characteristics of Allgrove (Triple A) Syndrome: Case Report and Literature ReviewDaniel I Weiman, Meredith K Gillespie, Taila Hartley, et al.
Epilepsia|June 7, 2014
Whole-exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo GRIN2A mutationSunita Venkateswaran, Ken A Myers, Amanda C Smith, et al.
Molecular Genetics & Genomic Medicine|June 2, 2016
Development of a diagnostic DNA chip to screen for 30 autosomal recessive disorders in the Hutterite populationBarbara Triggs-Raine, Tamara Dyck, Kym M Boycott, et al.
American Journal of Medical Genetics. Part A|April 23, 2015
Atypical fibrodysplasia ossificans progressiva diagnosed by whole-exome sequencingHao Liu, Sarah L Sawyer, Monika Gos, et al.
BMC Medical Genetics|March 28, 2014
Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial diseaseHugh J McMillan, Jeremy Schwartzentruber, Amanda Smith, et al.
Human Mutation|February 15, 2022
PhenomeCentral: 7 years of rare disease matchmakingMatthew Osmond, Taila Hartley, Brittney Johnstone, et al.
Journal of Child Neurology|October 22, 2014
Congenital Visual Impairment and Progressive Microcephaly Due to Lysyl-Transfer Ribonucleic Acid (RNA) Synthetase (KARS) Mutations: The Expanding Phenotype of Aminoacyl-Transfer RNA Synthetase Mutations in Human DiseaseHugh J McMillan, Peter Humphreys, Amanda Smith, et al.
Pageof 24

Showing results (61-70 of 239) with videos related to

Sort By:
Pageof 24
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 26, 2025
ThinkRare: A search algorithm to identify patients with undiagnosed rare genetic disease in an electronic medical recordGrace U Ediae, Alexandre White-Brown, Caitlin Chisholm, et al.
Scientific Reports|December 10, 2016
The defining DNA methylation signature of Floating-Harbor SyndromeRebecca L Hood, Laila C Schenkel, Sarah M Nikkel, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|September 3, 2024
IRF2BPL-Related Disorder, Causing Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech and Seizures (NEDAMSS) Is Characterized by Pathology Consistent with DRPLASunita Venkateswaran, Jean Michaud, Yoko Ito, et al.
Child Neurology Open|November 19, 2021
Neurophysiological Characteristics of Allgrove (Triple A) Syndrome: Case Report and Literature ReviewDaniel I Weiman, Meredith K Gillespie, Taila Hartley, et al.
Epilepsia|June 7, 2014
Whole-exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo GRIN2A mutationSunita Venkateswaran, Ken A Myers, Amanda C Smith, et al.
Molecular Genetics & Genomic Medicine|June 2, 2016
Development of a diagnostic DNA chip to screen for 30 autosomal recessive disorders in the Hutterite populationBarbara Triggs-Raine, Tamara Dyck, Kym M Boycott, et al.
American Journal of Medical Genetics. Part A|April 23, 2015
Atypical fibrodysplasia ossificans progressiva diagnosed by whole-exome sequencingHao Liu, Sarah L Sawyer, Monika Gos, et al.
BMC Medical Genetics|March 28, 2014
Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial diseaseHugh J McMillan, Jeremy Schwartzentruber, Amanda Smith, et al.
Human Mutation|February 15, 2022
PhenomeCentral: 7 years of rare disease matchmakingMatthew Osmond, Taila Hartley, Brittney Johnstone, et al.
Journal of Child Neurology|October 22, 2014
Congenital Visual Impairment and Progressive Microcephaly Due to Lysyl-Transfer Ribonucleic Acid (RNA) Synthetase (KARS) Mutations: The Expanding Phenotype of Aminoacyl-Transfer RNA Synthetase Mutations in Human DiseaseHugh J McMillan, Peter Humphreys, Amanda Smith, et al.
Pageof 24