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May Tassabehji

Showing results (1-10 of 31) with videos related to

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European Journal of Human Genetics : EJHG|March 9, 2006
Williams-Beuren Syndrome: more or less? Segmental duplications and deletions in the Williams-Beuren syndrome region provide new insights into language developmentMay Tassabehji, Dian Donnai
Methods in Molecular Medicine|August 26, 2006
Congenital heart disease: Molecular diagnostics of supravalvular aortic stenosisMay Tassabehji, Zsolt Urban
Frontiers in Genetics|April 2, 2020
Hardy-Weinberg Equilibrium in the Large Scale Genomic Sequencing EraNikita Abramovs, Andrew Brass, May Tassabehji
Nature Genetics|December 25, 2019
GeVIR is a continuous gene-level metric that uses variant distribution patterns to prioritize disease candidate genesNikita Abramovs, Andrew Brass, May Tassabehji
Developmental Neuropsychology|March 31, 2018
Functional basic reading skills in Williams syndromeGabrielle Brawn, Saskia Kohnen, May Tassabehji, et al.
Plos One|December 11, 2020
Ancestry of the AUTS2 family-A novel group of polycomb-complex proteins involved in human neurological diseaseRobert A Sellers, David L Robertson, May Tassabehji
Plastic and Reconstructive Surgery|December 21, 2011
DNA copy number variations at chromosome 7p14.1 and chromosome 14q11.2 are associated with dupuytren's disease: potential role for MMP and Wnt signaling pathwayBarbara Shih, May Tassabehji, James Stewart Watson, et al.
Neuropsychologia|October 12, 2005
In-depth analysis of spatial cognition in Williams syndrome: A critical assessment of the role of the LIMK1 geneVictoria Gray, Annette Karmiloff-Smith, Elaine Funnell, et al.
Clinical Dysmorphology|March 17, 2005
Autosomal dominant inheritance of Williams-Beuren syndrome in a father and son with haploinsufficiency for FKBP6Kay Metcalfe, Emil Simeonov, William Beckett, et al.
Journal of Medical Genetics|August 14, 2014
Oculo-auriculo-vertebral spectrum: a review of the literature and genetic updateAna Beleza-Meireles, Jill Clayton-Smith, Jorge M Saraiva, et al.
Pageof 4

Showing results (1-10 of 31) with videos related to

Sort By:
Pageof 4
European Journal of Human Genetics : EJHG|March 9, 2006
Williams-Beuren Syndrome: more or less? Segmental duplications and deletions in the Williams-Beuren syndrome region provide new insights into language developmentMay Tassabehji, Dian Donnai
Methods in Molecular Medicine|August 26, 2006
Congenital heart disease: Molecular diagnostics of supravalvular aortic stenosisMay Tassabehji, Zsolt Urban
Frontiers in Genetics|April 2, 2020
Hardy-Weinberg Equilibrium in the Large Scale Genomic Sequencing EraNikita Abramovs, Andrew Brass, May Tassabehji
Nature Genetics|December 25, 2019
GeVIR is a continuous gene-level metric that uses variant distribution patterns to prioritize disease candidate genesNikita Abramovs, Andrew Brass, May Tassabehji
Developmental Neuropsychology|March 31, 2018
Functional basic reading skills in Williams syndromeGabrielle Brawn, Saskia Kohnen, May Tassabehji, et al.
Plos One|December 11, 2020
Ancestry of the AUTS2 family-A novel group of polycomb-complex proteins involved in human neurological diseaseRobert A Sellers, David L Robertson, May Tassabehji
Plastic and Reconstructive Surgery|December 21, 2011
DNA copy number variations at chromosome 7p14.1 and chromosome 14q11.2 are associated with dupuytren's disease: potential role for MMP and Wnt signaling pathwayBarbara Shih, May Tassabehji, James Stewart Watson, et al.
Neuropsychologia|October 12, 2005
In-depth analysis of spatial cognition in Williams syndrome: A critical assessment of the role of the LIMK1 geneVictoria Gray, Annette Karmiloff-Smith, Elaine Funnell, et al.
Clinical Dysmorphology|March 17, 2005
Autosomal dominant inheritance of Williams-Beuren syndrome in a father and son with haploinsufficiency for FKBP6Kay Metcalfe, Emil Simeonov, William Beckett, et al.
Journal of Medical Genetics|August 14, 2014
Oculo-auriculo-vertebral spectrum: a review of the literature and genetic updateAna Beleza-Meireles, Jill Clayton-Smith, Jorge M Saraiva, et al.
Pageof 4