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Saima Riazuddin

Showing results (101-110 of 135) with videos related to

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Journal of Medical Genetics|September 24, 2011
Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotesJulie M Schultz, Rashid Bhatti, Anne C Madeo, et al.
American Journal of Human Genetics|August 22, 2017
Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical DevelopmentEkaterina L Ivanova, Frédéric Tran Mau-Them, Saima Riazuddin, et al.
European Journal of Human Genetics : EJHG|June 17, 2021
ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairmentThashi Bharadwaj, Isabelle Schrauwen, Sakina Rehman, et al.
Nature Genetics|February 19, 2002
Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell functionKiyoto Kurima, Linda M Peters, Yandan Yang, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 25, 2017
Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delayMuhammad Ansar, Saima Riazuddin, Muhammad Tahir Sarwar, et al.
Human Genetics|January 3, 2021
A missense allele of PEX5 is responsible for the defective import of PTS2 cargo proteins into peroxisomesMuhammad Ali, Shahid Y Khan, Tony A Rodrigues, et al.
Brain : a Journal of Neurology|April 1, 2020
RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disabilityMarcello Scala, Majid Mojarrad, Saima Riazuddin, et al.
American Journal of Human Genetics|January 7, 2014
Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86Atteeq U Rehman, Regie Lyn P Santos-Cortez, Robert J Morell, et al.
Nature Genetics|October 28, 2008
Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humansZubair M Ahmed, Saber Masmoudi, Ersan Kalay, et al.
American Journal of Human Genetics|December 12, 2018
Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive BehaviorArjan P M de Brouwer, Rami Abou Jamra, Nadine Körtel, et al.
Pageof 14

Showing results (101-110 of 135) with videos related to

Sort By:
Pageof 14
Journal of Medical Genetics|September 24, 2011
Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotesJulie M Schultz, Rashid Bhatti, Anne C Madeo, et al.
American Journal of Human Genetics|August 22, 2017
Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical DevelopmentEkaterina L Ivanova, Frédéric Tran Mau-Them, Saima Riazuddin, et al.
European Journal of Human Genetics : EJHG|June 17, 2021
ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairmentThashi Bharadwaj, Isabelle Schrauwen, Sakina Rehman, et al.
Nature Genetics|February 19, 2002
Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell functionKiyoto Kurima, Linda M Peters, Yandan Yang, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 25, 2017
Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delayMuhammad Ansar, Saima Riazuddin, Muhammad Tahir Sarwar, et al.
Human Genetics|January 3, 2021
A missense allele of PEX5 is responsible for the defective import of PTS2 cargo proteins into peroxisomesMuhammad Ali, Shahid Y Khan, Tony A Rodrigues, et al.
Brain : a Journal of Neurology|April 1, 2020
RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disabilityMarcello Scala, Majid Mojarrad, Saima Riazuddin, et al.
American Journal of Human Genetics|January 7, 2014
Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86Atteeq U Rehman, Regie Lyn P Santos-Cortez, Robert J Morell, et al.
Nature Genetics|October 28, 2008
Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humansZubair M Ahmed, Saber Masmoudi, Ersan Kalay, et al.
American Journal of Human Genetics|December 12, 2018
Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive BehaviorArjan P M de Brouwer, Rami Abou Jamra, Nadine Körtel, et al.
Pageof 14