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Megan R Vanstone

Showing results (1-10 of 7) with videos related to

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Nature Reviews. Genetics|September 4, 2013
Rare-disease genetics in the era of next-generation sequencing: discovery to translationKym M Boycott, Megan R Vanstone, Dennis E Bulman, et al.
Annual Review of Medicine|January 16, 2014
Identification of genes for childhood heritable diseasesKym M Boycott, David A Dyment, Sarah L Sawyer, 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.
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.
American Journal of Human Genetics|July 2, 2013
Mutations in PIK3R1 cause SHORT syndromeDavid A Dyment, Amanda C Smith, Diana Alcantara, et al.
American Journal of Human Genetics|May 6, 2017
International Cooperation to Enable the Diagnosis of All Rare Genetic DiseasesKym M Boycott, Ana Rath, Jessica X Chong, et al.
Human Mutation|October 29, 2015
Mandibulofacial Dysostosis with Microcephaly: Mutation and Database UpdateLijia Huang, Megan R Vanstone, Taila Hartley, et al.
Pageof 1

Showing results (1-10 of 7) with videos related to

Sort By:
Pageof 1
Nature Reviews. Genetics|September 4, 2013
Rare-disease genetics in the era of next-generation sequencing: discovery to translationKym M Boycott, Megan R Vanstone, Dennis E Bulman, et al.
Annual Review of Medicine|January 16, 2014
Identification of genes for childhood heritable diseasesKym M Boycott, David A Dyment, Sarah L Sawyer, 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.
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.
American Journal of Human Genetics|July 2, 2013
Mutations in PIK3R1 cause SHORT syndromeDavid A Dyment, Amanda C Smith, Diana Alcantara, et al.
American Journal of Human Genetics|May 6, 2017
International Cooperation to Enable the Diagnosis of All Rare Genetic DiseasesKym M Boycott, Ana Rath, Jessica X Chong, et al.
Human Mutation|October 29, 2015
Mandibulofacial Dysostosis with Microcephaly: Mutation and Database UpdateLijia Huang, Megan R Vanstone, Taila Hartley, et al.
Pageof 1