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Journal of Human Genetics|July 6, 2021
Further confirmation of the association of SLC12A2 with non-syndromic autosomal-dominant hearing impairmentSamuel M Adadey, Isabelle Schrauwen, Elvis Twumasi Aboagye, et al.
European Journal of Human Genetics : EJHG|December 24, 2015
Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disabilityMuhammad Ansar, Abid Jan, Regie Lyn P Santos-Cortez, et al.
International Journal of Dermatology|November 19, 2015
Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosisRahim Ullah, Muhammad Ansar, Zaka Ullah Durrani, et al.
Molecular Vision|August 2, 2017
Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous familiesAsmat Ullah, Muhammad Umair, Maryam Yousaf, et al.
Human Mutation|July 5, 2016
Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human DeafnessAtteeq U Rehman, Jonathan E Bird, Rabia Faridi, et al.
European Journal of Human Genetics : EJHG|September 8, 2023
Variants in EFCAB7 underlie nonsyndromic postaxial polydactylyMuhammad Bilal, Hammal Khan, Muhammad Javed Khan, et al.
Clinical Genetics|December 6, 2024
Unraveling the Genetic Basis of Congenital Limb Anomalies in Eight FamiliesInam Ullah Khan, Abdullah, Hammal Khan, et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience|October 1, 2022
Clinical and genetic characterization of patients segregating variants in KPTN, MINPP1, NGLY1, AP4B1, and SON underlying neurodevelopmental disorders: Genetic and phenotypic expansionAsmat Ullah, Abid Ali Shah, Majed Alluqmani, et al.
Frontiers in Cell and Developmental Biology|May 10, 2021
Genetic Defects in <i>DNAH2</i> Underlie Male Infertility With Multiple Morphological Abnormalities of the Sperm Flagella in Humans and MiceJae Yeon Hwang, Shoaib Nawaz, Jungmin Choi, et al.
Nature Genetics|October 5, 2010
WDR62 is associated with the spindle pole and is mutated in human microcephalyAdeline K Nicholas, Maryam Khurshid, Julie Désir, et al.
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