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Nature Reviews. Genetics
|
September 4, 2013
Rare-disease genetics in the era of next-generation sequencing: discovery to translation
Kym M Boycott, Megan R Vanstone, Dennis E Bulman, et al.
Annual Review of Medicine
|
January 16, 2014
Identification of genes for childhood heritable diseases
Kym 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 6
Jeffrey 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 cases
Karine Choquet, Martine Tétreault, Sharon Yang, et al.
American Journal of Human Genetics
|
July 2, 2013
Mutations in PIK3R1 cause SHORT syndrome
David 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 Diseases
Kym M Boycott, Ana Rath, Jessica X Chong, et al.
Human Mutation
|
October 29, 2015
Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update
Lijia Huang, Megan R Vanstone, Taila Hartley, et al.
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Search research articles
Search
Showing results (1-10 of 7) with videos related to
Sort By:
Page
of 1
Nature Reviews. Genetics
|
September 4, 2013
Rare-disease genetics in the era of next-generation sequencing: discovery to translation
Kym M Boycott, Megan R Vanstone, Dennis E Bulman, et al.
Annual Review of Medicine
|
January 16, 2014
Identification of genes for childhood heritable diseases
Kym 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 6
Jeffrey 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 cases
Karine Choquet, Martine Tétreault, Sharon Yang, et al.
American Journal of Human Genetics
|
July 2, 2013
Mutations in PIK3R1 cause SHORT syndrome
David 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 Diseases
Kym M Boycott, Ana Rath, Jessica X Chong, et al.
Human Mutation
|
October 29, 2015
Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update
Lijia Huang, Megan R Vanstone, Taila Hartley, et al.
Page
of 1