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L MICHAUD

Showing results (471-480 of 509) with videos related to

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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|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.
Transplantation|October 3, 1999
Safety, tolerability and efficacy of cyclosporine microemulsion in heart transplant recipients: a randomized, multicenter, double-blind comparison with the oil based formulation of cyclosporine--results at six months after transplantationH J Eisen, R E Hobbs, S F Davis, et al.
Epilepsia|December 6, 2020
FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disabilityAmy L Schneider, Candace T Myers, Alison M Muir, 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.
Human Genetics|April 11, 2017
Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disabilityNuria C Bramswig, Hermann-Josef Lüdecke, Fadi F Hamdan, et al.
The New England Journal of Medicine|February 7, 2009
Mutations in SYNGAP1 in autosomal nonsyndromic mental retardationFadi F Hamdan, Julie Gauthier, Dan Spiegelman, et al.
Human Mutation|November 20, 2012
Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiencyMartin H Berryer, Fadi F Hamdan, Laura L Klitten, et al.
Transplantation|February 24, 2001
Safety, tolerability, and efficacy of cyclosporine microemulsion in heart transplant recipients: a randomized, multicenter, double-blind comparison with the oil-based formulation of cyclosporine--results at 24 months after transplantationH J Eisen, R E Hobbs, S F Davis, et al.
BMC Genomics|November 18, 2009
Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridizationJm Friedman, Shelin Adam, Laura Arbour, et al.
Pageof 51

Showing results (471-480 of 509) with videos related to

Sort By:
Pageof 51
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|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.
Transplantation|October 3, 1999
Safety, tolerability and efficacy of cyclosporine microemulsion in heart transplant recipients: a randomized, multicenter, double-blind comparison with the oil based formulation of cyclosporine--results at six months after transplantationH J Eisen, R E Hobbs, S F Davis, et al.
Epilepsia|December 6, 2020
FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disabilityAmy L Schneider, Candace T Myers, Alison M Muir, 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.
Human Genetics|April 11, 2017
Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disabilityNuria C Bramswig, Hermann-Josef Lüdecke, Fadi F Hamdan, et al.
The New England Journal of Medicine|February 7, 2009
Mutations in SYNGAP1 in autosomal nonsyndromic mental retardationFadi F Hamdan, Julie Gauthier, Dan Spiegelman, et al.
Human Mutation|November 20, 2012
Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiencyMartin H Berryer, Fadi F Hamdan, Laura L Klitten, et al.
Transplantation|February 24, 2001
Safety, tolerability, and efficacy of cyclosporine microemulsion in heart transplant recipients: a randomized, multicenter, double-blind comparison with the oil-based formulation of cyclosporine--results at 24 months after transplantationH J Eisen, R E Hobbs, S F Davis, et al.
BMC Genomics|November 18, 2009
Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridizationJm Friedman, Shelin Adam, Laura Arbour, et al.
Pageof 51