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Saima Riazuddin

Showing results (71-80 of 135) with videos related to

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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.
The Journal of Clinical Investigation|August 28, 2013
Tricellulin deficiency affects tight junction architecture and cochlear hair cellsGowri Nayak, Sue I Lee, Rizwan Yousaf, 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.
Nature Communications|July 1, 2017
CIB2 interacts with TMC1 and TMC2 and is essential for mechanotransduction in auditory hair cellsArnaud P J Giese, Yi-Quan Tang, Ghanshyam P Sinha, et al.
Investigative Ophthalmology & Visual Science|November 20, 2019
Homozygous Variant in ARL3 Causes Autosomal Recessive Cone Rod DystrophyShakeel A Sheikh, Robert A Sisk, Cara R Schiavon, 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.
Pageof 14

Showing results (71-80 of 135) with videos related to

Sort By:
Pageof 14
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.
The Journal of Clinical Investigation|August 28, 2013
Tricellulin deficiency affects tight junction architecture and cochlear hair cellsGowri Nayak, Sue I Lee, Rizwan Yousaf, 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.
Nature Communications|July 1, 2017
CIB2 interacts with TMC1 and TMC2 and is essential for mechanotransduction in auditory hair cellsArnaud P J Giese, Yi-Quan Tang, Ghanshyam P Sinha, et al.
Investigative Ophthalmology & Visual Science|November 20, 2019
Homozygous Variant in ARL3 Causes Autosomal Recessive Cone Rod DystrophyShakeel A Sheikh, Robert A Sisk, Cara R Schiavon, 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.
Pageof 14