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Molecular Vision|April 21, 2010
Autosomal recessive congenital cataract in consanguineous Pakistani families is associated with mutations in GALK1Afshan Yasmeen, S Amer Riazuddin, Haiba Kaul, et al.Molecular Vision|December 3, 2015
Mutations in GRM6 identified in consanguineous Pakistani families with congenital stationary night blindnessMuhammad Asif Naeem, Alexander D H Gottsch, Inayat Ullah, et al.Journal of Medical Genetics|February 7, 2006
Mutations of human TMHS cause recessively inherited non-syndromic hearing lossM I Shabbir, Z M Ahmed, S Y Khan, et al.Genes|July 27, 2024
Deafness DFNB128 Associated with a Recessive Variant of Human MAP3K1 Recapitulates Hearing Loss of Map3k1-Deficient MiceRabia Faridi, Rizwan Yousaf, Sayaka Inagaki, et al.Frontiers in Genetics|April 8, 2022
CLCC1 c. 75C>A Mutation in Pakistani Derived Retinitis Pigmentosa Families Likely Originated With a Single Founder Mutation 2,000-5,000 Years AgoYan Ma, Xun Wang, Nadav Shoshany, et al.Human Molecular Genetics|October 4, 2017
A mutation in IFT43 causes non-syndromic recessive retinal degenerationPooja Biswas, Jacque L Duncan, Muhammad Ali, et al.Archives of Medical Research|March 6, 2012
Targeted next generation sequencing reveals a novel intragenic deletion of the TPO gene in a family with intellectual disabilityZafar Iqbal, Kornelia Neveling, Attia Razzaq, et al.Human Mutation|January 18, 2007
Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locusShahid Y Khan, Zubair M Ahmed, Muhammad I Shabbir, et al.Genes|September 29, 2020
Mouse Models of Human Pathogenic Variants of TBC1D24 Associated with Non-Syndromic Deafness DFNB86 and DFNA65 and Syndromes Involving DeafnessRisa Tona, Ivan A Lopez, Cristina Fenollar-Ferrer, et al.American Journal of Human Genetics|December 23, 2006
Tricellulin is a tight-junction protein necessary for hearingSaima Riazuddin, Zubair M Ahmed, Alan S Fanning, et al.Pageof 22