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Kym M Boycott

Showing results (101-110 of 239) with videos related to

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Applied Health Economics and Health Policy|December 31, 2024
Exome Sequencing in the Diagnostic Pathway for Suspected Rare Genetic Diseases: Does the Order of Testing Affect its Cost-Effectiveness?Koen Degeling, Toni Tagimacruz, Karen V MacDonald, et al.
Journal of Neuropathology and Experimental Neurology|October 8, 2014
Neuropathologic features of pontocerebellar hypoplasia type 6Jeffrey T Joseph, A Micheil Innes, Amanda C Smith, et al.
Journal of Neuromuscular Diseases|November 12, 2025
<i>MT-ATP6</i> variant as a cause of adult-onset hereditary spastic paraparesis: A case report and literature reviewLola Er Lessard, Danielle K Bourque, Pierre J Bourque, et al.
BMC Medical Genetics|November 23, 2012
Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotypeBridget A Fernandez, Jane S Green, Ford Bursey, et al.
Epigenetics & Chromatin|March 16, 2017
Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndromeLaila C Schenkel, Kristin D Kernohan, Arran McBride, et al.
Human Molecular Genetics|February 18, 2021
Mutation in Eftud2 causes craniofacial defects in mice via mis-splicing of Mdm2 and increased P53Marie-Claude Beauchamp, Anissa Djedid, Eric Bareke, et al.
Orphanet Journal of Rare Diseases|July 10, 2013
Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduriaJulien L Marcadier, Amanda M Smith, Daniela Pohl, et al.
European Journal of Human Genetics : EJHG|December 3, 2015
SPG7 mutations explain a significant proportion of French Canadian spastic ataxia casesKarine Choquet, Martine Tétreault, Sharon Yang, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 18, 2014
Attitudes of parents toward the return of targeted and incidental genomic research findings in childrenConrad V Fernandez, Eric Bouffet, David Malkin, et al.
Cell|March 23, 2019
A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next FrontiersKym M Boycott, Taila Hartley, Leslie G Biesecker, et al.
Pageof 24

Showing results (101-110 of 239) with videos related to

Sort By:
Pageof 24
Applied Health Economics and Health Policy|December 31, 2024
Exome Sequencing in the Diagnostic Pathway for Suspected Rare Genetic Diseases: Does the Order of Testing Affect its Cost-Effectiveness?Koen Degeling, Toni Tagimacruz, Karen V MacDonald, et al.
Journal of Neuropathology and Experimental Neurology|October 8, 2014
Neuropathologic features of pontocerebellar hypoplasia type 6Jeffrey T Joseph, A Micheil Innes, Amanda C Smith, et al.
Journal of Neuromuscular Diseases|November 12, 2025
<i>MT-ATP6</i> variant as a cause of adult-onset hereditary spastic paraparesis: A case report and literature reviewLola Er Lessard, Danielle K Bourque, Pierre J Bourque, et al.
BMC Medical Genetics|November 23, 2012
Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotypeBridget A Fernandez, Jane S Green, Ford Bursey, et al.
Epigenetics & Chromatin|March 16, 2017
Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndromeLaila C Schenkel, Kristin D Kernohan, Arran McBride, et al.
Human Molecular Genetics|February 18, 2021
Mutation in Eftud2 causes craniofacial defects in mice via mis-splicing of Mdm2 and increased P53Marie-Claude Beauchamp, Anissa Djedid, Eric Bareke, et al.
Orphanet Journal of Rare Diseases|July 10, 2013
Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduriaJulien L Marcadier, Amanda M Smith, Daniela Pohl, et al.
European Journal of Human Genetics : EJHG|December 3, 2015
SPG7 mutations explain a significant proportion of French Canadian spastic ataxia casesKarine Choquet, Martine Tétreault, Sharon Yang, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 18, 2014
Attitudes of parents toward the return of targeted and incidental genomic research findings in childrenConrad V Fernandez, Eric Bouffet, David Malkin, et al.
Cell|March 23, 2019
A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next FrontiersKym M Boycott, Taila Hartley, Leslie G Biesecker, et al.
Pageof 24