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Tabib Dabir

Showing results (1-10 of 25) with videos related to

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Neonatology|January 17, 2008
Down syndrome, achondroplasia and tetralogy of FallotTabib Dabir, Brian A McCrossan, Louise Sweeney, et al.
Familial Cancer|June 1, 2006
The RET mutation E768D confers a late-onset familial medullary thyroid carcinoma -- only phenotype with incomplete penetrance: implications for screening and management of carrier statusTabib Dabir, Steven J Hunter, Colin F J Russell, et al.
Clinical Dysmorphology|June 7, 2007
Cranio-osteoarthropathy in sibsTabib Dabir, A M Sills, Christine M Hall, et al.
Molecular Vision|February 5, 2019
Identification and functional analysis of a novel oculocerebrorenal syndrome of Lowe (<i>OCRL</i>) gene variant in two pedigrees with varying phenotypes including isolated congenital cataractAhmed K Shalaby, Peter Emery-Billcliff, Diana Baralle, et al.
Plos One|February 25, 2020
Risk factors for congenital heart disease: The Baby Hearts Study, a population-based case-control studyHelen Dolk, Nichola McCullough, Sinead Callaghan, et al.
International Journal of Molecular Sciences|February 25, 2023
Novel Variants of <i>SOX4</i> in Patients with Intellectual DisabilityMartin Grosse, Alma Kuechler, Tabib Dabir, et al.
Molecular Genetics & Genomic Medicine|September 26, 2017
Protein structure and phenotypic analysis of pathogenic and population missense variants in <i>STXBP1</i>Mohnish Suri, Jochem M G Evers, Roman A Laskowski, et al.
European Journal of Human Genetics : EJHG|September 27, 2024
Chromatin assembly factor subunit CHAF1A as a monogenic cause for oculo-auriculo-vertebral spectrumVéronique Pingault, Cécilia Neiva-Vaz, Judite de Oliveira, et al.
Human Mutation|April 14, 2025
A Palindrome-Like Structure on 16p13.3 Is Associated with the Formation of Complex Structural Variations and <i>SRRM2</i> HaploinsufficiencyAlistair T Pagnamenta, Jing Yu, Tracey A Willis, et al.
Nature Genetics|March 12, 2014
Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disabilityKatrina Tatton-Brown, Sheila Seal, Elise Ruark, et al.
Pageof 3

Showing results (1-10 of 25) with videos related to

Sort By:
Pageof 3
Neonatology|January 17, 2008
Down syndrome, achondroplasia and tetralogy of FallotTabib Dabir, Brian A McCrossan, Louise Sweeney, et al.
Familial Cancer|June 1, 2006
The RET mutation E768D confers a late-onset familial medullary thyroid carcinoma -- only phenotype with incomplete penetrance: implications for screening and management of carrier statusTabib Dabir, Steven J Hunter, Colin F J Russell, et al.
Clinical Dysmorphology|June 7, 2007
Cranio-osteoarthropathy in sibsTabib Dabir, A M Sills, Christine M Hall, et al.
Molecular Vision|February 5, 2019
Identification and functional analysis of a novel oculocerebrorenal syndrome of Lowe (<i>OCRL</i>) gene variant in two pedigrees with varying phenotypes including isolated congenital cataractAhmed K Shalaby, Peter Emery-Billcliff, Diana Baralle, et al.
Plos One|February 25, 2020
Risk factors for congenital heart disease: The Baby Hearts Study, a population-based case-control studyHelen Dolk, Nichola McCullough, Sinead Callaghan, et al.
International Journal of Molecular Sciences|February 25, 2023
Novel Variants of <i>SOX4</i> in Patients with Intellectual DisabilityMartin Grosse, Alma Kuechler, Tabib Dabir, et al.
Molecular Genetics & Genomic Medicine|September 26, 2017
Protein structure and phenotypic analysis of pathogenic and population missense variants in <i>STXBP1</i>Mohnish Suri, Jochem M G Evers, Roman A Laskowski, et al.
European Journal of Human Genetics : EJHG|September 27, 2024
Chromatin assembly factor subunit CHAF1A as a monogenic cause for oculo-auriculo-vertebral spectrumVéronique Pingault, Cécilia Neiva-Vaz, Judite de Oliveira, et al.
Human Mutation|April 14, 2025
A Palindrome-Like Structure on 16p13.3 Is Associated with the Formation of Complex Structural Variations and <i>SRRM2</i> HaploinsufficiencyAlistair T Pagnamenta, Jing Yu, Tracey A Willis, et al.
Nature Genetics|March 12, 2014
Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disabilityKatrina Tatton-Brown, Sheila Seal, Elise Ruark, et al.
Pageof 3