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Muhammad Ansar

Showing results (171-180 of 191) with videos related to

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JAMA Ophthalmology|December 4, 2025
Early-Onset Retinopathy in Patients With Variants in SLC6A6 Leading to Impaired Taurine TransportMukhtar Ullah, Atta Ur Rehman, Madhur Shetty, et al.
Human Mutation|October 11, 2018
Global genetic insight contributed by consanguineous Pakistani families segregating hearing lossElodie M Richard, Regie Lyn P Santos-Cortez, Rabia Faridi, et al.
Human Mutation|November 30, 2020
New variants and in silico analyses in GRK1 associated Oguchi diseaseJames A Poulter, Molly S C Gravett, Rachel L Taylor, et al.
American Journal of Human Genetics|January 9, 2008
Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35Rob W J Collin, Ersan Kalay, Muhammad Tariq, et al.
Nature Genetics|August 26, 2025
Author Correction: Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48Saima Riazuddin, Inna A Belyantseva, Arnaud P J Giese, et al.
European Journal of Human Genetics : EJHG|December 11, 2014
Challenges and solutions for gene identification in the presence of familial locus heterogeneityAtteeq U Rehman, Regie Lyn P Santos-Cortez, Meghan C Drummond, et al.
Medrxiv : the Preprint Server for Health Sciences|October 17, 2024
Biallelic variants in <i>MRPL49</i> cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiencyHuw B Thomas, Leigh A M Demain, Alfredo Cabrera-Orefice, et al.
American Journal of Human Genetics|January 14, 2020
Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 DeficiencyDavid B Beck, Ana Petracovici, Chongsheng He, et al.
Nature Genetics|October 2, 2012
Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48Saima Riazuddin, Inna A Belyantseva, Arnaud P J Giese, et al.
Clinical Genetics|May 22, 2024
Clinical and genetic investigation of 14 families with various forms of short stature syndromesFati Ullah Khan, Hammal Khan, Kifayat Ullah, et al.
Pageof 20

Showing results (171-180 of 191) with videos related to

Sort By:
Pageof 20
JAMA Ophthalmology|December 4, 2025
Early-Onset Retinopathy in Patients With Variants in SLC6A6 Leading to Impaired Taurine TransportMukhtar Ullah, Atta Ur Rehman, Madhur Shetty, et al.
Human Mutation|October 11, 2018
Global genetic insight contributed by consanguineous Pakistani families segregating hearing lossElodie M Richard, Regie Lyn P Santos-Cortez, Rabia Faridi, et al.
Human Mutation|November 30, 2020
New variants and in silico analyses in GRK1 associated Oguchi diseaseJames A Poulter, Molly S C Gravett, Rachel L Taylor, et al.
American Journal of Human Genetics|January 9, 2008
Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35Rob W J Collin, Ersan Kalay, Muhammad Tariq, et al.
Nature Genetics|August 26, 2025
Author Correction: Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48Saima Riazuddin, Inna A Belyantseva, Arnaud P J Giese, et al.
European Journal of Human Genetics : EJHG|December 11, 2014
Challenges and solutions for gene identification in the presence of familial locus heterogeneityAtteeq U Rehman, Regie Lyn P Santos-Cortez, Meghan C Drummond, et al.
Medrxiv : the Preprint Server for Health Sciences|October 17, 2024
Biallelic variants in <i>MRPL49</i> cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiencyHuw B Thomas, Leigh A M Demain, Alfredo Cabrera-Orefice, et al.
American Journal of Human Genetics|January 14, 2020
Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 DeficiencyDavid B Beck, Ana Petracovici, Chongsheng He, et al.
Nature Genetics|October 2, 2012
Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48Saima Riazuddin, Inna A Belyantseva, Arnaud P J Giese, et al.
Clinical Genetics|May 22, 2024
Clinical and genetic investigation of 14 families with various forms of short stature syndromesFati Ullah Khan, Hammal Khan, Kifayat Ullah, et al.
Pageof 20