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American Journal of Human Genetics|November 7, 2015
Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent StutteringM Hashim Raza, Rafael Mattera, Robert Morell, et al.
American Journal of Human Genetics|August 4, 2009
Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndromeSaima Riazuddin, Saima Anwar, Martin Fischer, et al.
Plos One|September 10, 2015
Investigating the Molecular Basis of Retinal Degeneration in a Familial Cohort of Pakistani Decent by Exome SequencingBruno Maranhao, Pooja Biswas, Alexander D H Gottsch, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 29, 2025
KLHL13 functional defects cause neurodevelopmental disorder in humans that can be rescued via inhibition of AURKB in cellular and animal modelsTehmeena Akhter, Zubair M Ahmed, Yaping Ji, et al.
American Journal of Human Genetics|July 30, 2002
Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locusSadaf Naz, Chantal M Giguere, David C Kohrman, et al.
Otolaryngology--Head and Neck Surgery : Official Journal of American Academy of Otolaryngology-Head and Neck Surgery|June 18, 2013
Genetic analysis through OtoSeq of Pakistani families segregating prelingual hearing lossMohsin Shahzad, Theru A Sivakumaran, Tanveer A Qaiser, et al.
Human Genetics|February 11, 2015
Molecular genetics of MARVELD2 and clinical phenotype in Pakistani and Slovak families segregating DFNB49 hearing lossGowri Nayak, Lukas Varga, Claire Trincot, et al.
American Journal of Human Genetics|April 11, 2003
Mutations of MYO6 are associated with recessive deafness, DFNB37Zubair M Ahmed, Robert J Morell, Saima Riazuddin, 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.
American Journal of Human Genetics|October 1, 2019
Bi-allelic Variants in METTL5 Cause Autosomal-Recessive Intellectual Disability and MicrocephalyElodie M Richard, Daniel L Polla, Muhammad Zaman Assir, et al.
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