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Edward Blair

Showing results (41-50 of 67) with videos related to

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Circulation. Cardiovascular Genetics|September 15, 2016
Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Left Ventricular NoncompactionRobert Hastings, Carin P de Villiers, Charlotte Hooper, et al.
American Journal of Medical Genetics. Part A|June 7, 2022
TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable conditionLuciana Musante, Flavio Faletra, Kolja Meier, et al.
Annals of Clinical and Translational Neurology|July 30, 2019
Encephalopathies with KCNC1 variants: genotype-phenotype-functional correlationsJillian M Cameron, Snezana Maljevic, Umesh Nair, et al.
Journal of Medical Genetics|November 3, 2022
In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting <i>FOXP2</i>Lottie D Morison, Elisabeth Meffert, Miriam Stampfer, et al.
Nature Genetics|August 15, 2006
Discovery of previously unidentified genomic disorders from the duplication architecture of the human genomeAndrew J Sharp, Sierra Hansen, Rebecca R Selzer, et al.
Human Mutation|January 16, 2007
Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot regionElke M Botzenhart, Gabriella Bartalini, Edward Blair, et al.
Human Molecular Genetics|December 17, 2013
Cohen syndrome is associated with major glycosylation defectsLaurence Duplomb, Sandrine Duvet, Damien Picot, et al.
European Journal of Human Genetics : EJHG|July 15, 2018
Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasiaCaroline Michot, Carine Le Goff, Edward Blair, et al.
Journal of Molecular Medicine (Berlin, Germany)|March 8, 2019
Serpin B1 defect and increased apoptosis of neutrophils in Cohen syndrome neutropeniaLaurence Duplomb, Julie Rivière, Gaëtan Jego, et al.
Clinical Genetics|March 13, 2019
Delineation of dominant and recessive forms of LZTR1-associated Noonan syndromeAlistair T Pagnamenta, Pamela J Kaisaki, Fenella Bennett, et al.
Pageof 7

Showing results (41-50 of 67) with videos related to

Sort By:
Pageof 7
Circulation. Cardiovascular Genetics|September 15, 2016
Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Left Ventricular NoncompactionRobert Hastings, Carin P de Villiers, Charlotte Hooper, et al.
American Journal of Medical Genetics. Part A|June 7, 2022
TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable conditionLuciana Musante, Flavio Faletra, Kolja Meier, et al.
Annals of Clinical and Translational Neurology|July 30, 2019
Encephalopathies with KCNC1 variants: genotype-phenotype-functional correlationsJillian M Cameron, Snezana Maljevic, Umesh Nair, et al.
Journal of Medical Genetics|November 3, 2022
In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting <i>FOXP2</i>Lottie D Morison, Elisabeth Meffert, Miriam Stampfer, et al.
Nature Genetics|August 15, 2006
Discovery of previously unidentified genomic disorders from the duplication architecture of the human genomeAndrew J Sharp, Sierra Hansen, Rebecca R Selzer, et al.
Human Mutation|January 16, 2007
Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot regionElke M Botzenhart, Gabriella Bartalini, Edward Blair, et al.
Human Molecular Genetics|December 17, 2013
Cohen syndrome is associated with major glycosylation defectsLaurence Duplomb, Sandrine Duvet, Damien Picot, et al.
European Journal of Human Genetics : EJHG|July 15, 2018
Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasiaCaroline Michot, Carine Le Goff, Edward Blair, et al.
Journal of Molecular Medicine (Berlin, Germany)|March 8, 2019
Serpin B1 defect and increased apoptosis of neutrophils in Cohen syndrome neutropeniaLaurence Duplomb, Julie Rivière, Gaëtan Jego, et al.
Clinical Genetics|March 13, 2019
Delineation of dominant and recessive forms of LZTR1-associated Noonan syndromeAlistair T Pagnamenta, Pamela J Kaisaki, Fenella Bennett, et al.
Pageof 7