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Shelin Adam

Showing results (21-30 of 34) with videos related to

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European Journal of Medical Genetics|August 18, 2020
Integration of genetic counsellors in genomic testing triage: Outcomes of a genomic consultation service in British Columbia, CanadaCourtney B Cook, Nick Dragojlovic, Angela Siemens, et al.
Journal of Genetic Counseling|July 24, 2018
Assessing an Interactive Online Tool to Support Parents' Genomic Testing DecisionsShelin Adam, Patricia H Birch, Rachel R Coe, et al.
Orphanet Journal of Rare Diseases|January 29, 2014
A novel recurrent mutation in ATP1A3 causes CAPOS syndromeMichelle K Demos, Clara Dm van Karnebeek, Colin Jd Ross, et al.
Pediatric Neurology|August 17, 2017
An Infant With Epilepsy and Recurrent Hemiplegia due to Compound Heterozygous Variants in ATP1A2Colin Wilbur, Sarah E Buerki, Ilaria Guella, et al.
American Journal of Medical Genetics. Part A|September 13, 2017
Compound heterozygous TRPV4 mutations in two siblings with a complex phenotype including severe intellectual disability and neuropathyMy Linh Thibodeau, Colin H Peters, Katelin N Townsend, et al.
American Journal of Medical Genetics. Part A|December 17, 2019
Renpenning syndrome in a femaleRaymond Y Cho, Maria S Peñaherrera, Christele Du Souich, et al.
Neurology. Genetics|November 23, 2016
De novo <i>FGF12</i> mutation in 2 patients with neonatal-onset epilepsyIlaria Guella, Linda Huh, Marna B McKenzie, et al.
American Journal of Human Genetics|June 7, 2014
FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery projectChandree L Beaulieu, Jacek Majewski, Jeremy Schwartzentruber, et al.
Journal of Medical Genetics|March 31, 2018
Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of <i>MAGEL2</i>-related disordersRebekah Jobling, Dimitri James Stavropoulos, Christian R Marshall, et al.
Journal of Medical Genetics|May 9, 2015
The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical GeneticistsKym Boycott, Taila Hartley, Shelin Adam, et al.
Pageof 4

Showing results (21-30 of 34) with videos related to

Sort By:
Pageof 4
European Journal of Medical Genetics|August 18, 2020
Integration of genetic counsellors in genomic testing triage: Outcomes of a genomic consultation service in British Columbia, CanadaCourtney B Cook, Nick Dragojlovic, Angela Siemens, et al.
Journal of Genetic Counseling|July 24, 2018
Assessing an Interactive Online Tool to Support Parents' Genomic Testing DecisionsShelin Adam, Patricia H Birch, Rachel R Coe, et al.
Orphanet Journal of Rare Diseases|January 29, 2014
A novel recurrent mutation in ATP1A3 causes CAPOS syndromeMichelle K Demos, Clara Dm van Karnebeek, Colin Jd Ross, et al.
Pediatric Neurology|August 17, 2017
An Infant With Epilepsy and Recurrent Hemiplegia due to Compound Heterozygous Variants in ATP1A2Colin Wilbur, Sarah E Buerki, Ilaria Guella, et al.
American Journal of Medical Genetics. Part A|September 13, 2017
Compound heterozygous TRPV4 mutations in two siblings with a complex phenotype including severe intellectual disability and neuropathyMy Linh Thibodeau, Colin H Peters, Katelin N Townsend, et al.
American Journal of Medical Genetics. Part A|December 17, 2019
Renpenning syndrome in a femaleRaymond Y Cho, Maria S Peñaherrera, Christele Du Souich, et al.
Neurology. Genetics|November 23, 2016
De novo <i>FGF12</i> mutation in 2 patients with neonatal-onset epilepsyIlaria Guella, Linda Huh, Marna B McKenzie, et al.
American Journal of Human Genetics|June 7, 2014
FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery projectChandree L Beaulieu, Jacek Majewski, Jeremy Schwartzentruber, et al.
Journal of Medical Genetics|March 31, 2018
Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of <i>MAGEL2</i>-related disordersRebekah Jobling, Dimitri James Stavropoulos, Christian R Marshall, et al.
Journal of Medical Genetics|May 9, 2015
The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical GeneticistsKym Boycott, Taila Hartley, Shelin Adam, et al.
Pageof 4