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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 development
May Tassabehji, Dian Donnai
Methods in Molecular Medicine
|
August 26, 2006
Congenital heart disease: Molecular diagnostics of supravalvular aortic stenosis
May Tassabehji, Zsolt Urban
Frontiers in Genetics
|
April 2, 2020
Hardy-Weinberg Equilibrium in the Large Scale Genomic Sequencing Era
Nikita 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 genes
Nikita Abramovs, Andrew Brass, May Tassabehji
Developmental Neuropsychology
|
March 31, 2018
Functional basic reading skills in Williams syndrome
Gabrielle 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 disease
Robert 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 pathway
Barbara 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 gene
Victoria 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 FKBP6
Kay 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 update
Ana Beleza-Meireles, Jill Clayton-Smith, Jorge M Saraiva, et al.
Page
of 4
Search research articles
Search
Showing results (1-10 of 31) with videos related to
Sort By:
Page
of 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 development
May Tassabehji, Dian Donnai
Methods in Molecular Medicine
|
August 26, 2006
Congenital heart disease: Molecular diagnostics of supravalvular aortic stenosis
May Tassabehji, Zsolt Urban
Frontiers in Genetics
|
April 2, 2020
Hardy-Weinberg Equilibrium in the Large Scale Genomic Sequencing Era
Nikita 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 genes
Nikita Abramovs, Andrew Brass, May Tassabehji
Developmental Neuropsychology
|
March 31, 2018
Functional basic reading skills in Williams syndrome
Gabrielle 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 disease
Robert 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 pathway
Barbara 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 gene
Victoria 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 FKBP6
Kay 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 update
Ana Beleza-Meireles, Jill Clayton-Smith, Jorge M Saraiva, et al.
Page
of 4