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Saima Riazuddin

Showing results (81-90 of 135) with videos related to

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The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|June 30, 2006
The tip-link antigen, a protein associated with the transduction complex of sensory hair cells, is protocadherin-15Zubair M Ahmed, Richard Goodyear, Saima Riazuddin, et al.
Human Mutation|June 5, 2007
Mutational spectrum of MYO15A: the large N-terminal extension of myosin XVA is required for hearingNevra Nal, Zubair M Ahmed, Engin Erkal, et al.
Plos One|April 18, 2015
MARVELD2 (DFNB49) mutations in the hearing impaired Central European Roma population--prevalence, clinical impact and the common originIvica Mašindová, Andrea Šoltýsová, Lukáš Varga, et al.
BMC Medical Genetics|September 28, 2004
Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and PakistanZubair M Ahmed, Xiaoyan Cindy Li, Shontell D Powell, et al.
American Journal of Human Genetics|December 28, 2010
Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74Zubair M Ahmed, Rizwan Yousaf, Byung Cheon Lee, et al.
Human Genetics|June 11, 2011
Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19pAtteeq U Rehman, Khitab Gul, Robert J Morell, et al.
American Journal of Human Genetics|December 31, 2005
Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafnessSaima Riazuddin, Shaheen N Khan, Zubair M Ahmed, et al.
Human Mutation|January 9, 2008
Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual functionSaima Riazuddin, Sabiha Nazli, Zubair M Ahmed, et al.
Human Molecular Genetics|February 1, 2014
Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafishRegie Lyn P Santos-Cortez, Kwanghyuk Lee, Arnaud P Giese, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|November 6, 2018
FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in MiceIsabelle Schrauwen, Arnaud Pj Giese, Abdul Aziz, et al.
Pageof 14

Showing results (81-90 of 135) with videos related to

Sort By:
Pageof 14
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|June 30, 2006
The tip-link antigen, a protein associated with the transduction complex of sensory hair cells, is protocadherin-15Zubair M Ahmed, Richard Goodyear, Saima Riazuddin, et al.
Human Mutation|June 5, 2007
Mutational spectrum of MYO15A: the large N-terminal extension of myosin XVA is required for hearingNevra Nal, Zubair M Ahmed, Engin Erkal, et al.
Plos One|April 18, 2015
MARVELD2 (DFNB49) mutations in the hearing impaired Central European Roma population--prevalence, clinical impact and the common originIvica Mašindová, Andrea Šoltýsová, Lukáš Varga, et al.
BMC Medical Genetics|September 28, 2004
Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and PakistanZubair M Ahmed, Xiaoyan Cindy Li, Shontell D Powell, et al.
American Journal of Human Genetics|December 28, 2010
Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74Zubair M Ahmed, Rizwan Yousaf, Byung Cheon Lee, et al.
Human Genetics|June 11, 2011
Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19pAtteeq U Rehman, Khitab Gul, Robert J Morell, et al.
American Journal of Human Genetics|December 31, 2005
Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafnessSaima Riazuddin, Shaheen N Khan, Zubair M Ahmed, et al.
Human Mutation|January 9, 2008
Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual functionSaima Riazuddin, Sabiha Nazli, Zubair M Ahmed, et al.
Human Molecular Genetics|February 1, 2014
Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafishRegie Lyn P Santos-Cortez, Kwanghyuk Lee, Arnaud P Giese, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|November 6, 2018
FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in MiceIsabelle Schrauwen, Arnaud Pj Giese, Abdul Aziz, et al.
Pageof 14