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Plos One|June 22, 2016
A Common Ancestral Mutation in CRYBB3 Identified in Multiple Consanguineous Families with Congenital CataractsXiaodong Jiao, Firoz Kabir, Bushra Irum, et al.Human Genome Variation|May 16, 2020
Mutations in CERKL and RP1 cause retinitis pigmentosa in Pakistani familiesRaheela Nadeem, Firoz Kabir, Jiali Li, et al.American Journal of Human Genetics|August 28, 2010
A mutation in ZNF513, a putative regulator of photoreceptor development, causes autosomal-recessive retinitis pigmentosaLin Li, Naoki Nakaya, Venkata R M Chavali, et al.BMC Medical Genetics|February 11, 2011
Variable expressivity of FGF3 mutations associated with deafness and LAMM syndromeSaima Riazuddin, Zubair M Ahmed, Rashmi S Hegde, et al.Scientific Reports|October 14, 2022
Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucomaBushra Rauf, Shahid Y Khan, Xiaodong Jiao, et al.Plos One|September 25, 2015
Missense Mutations in CRYAB Are Liable for Recessive Congenital CataractsXiaodong Jiao, Shahid Y Khan, Bushra Irum, et al.Journal of Medical Genetics|March 25, 2018
Inframe deletion of human ESPN is associated with deafness, vestibulopathy and vision impairmentZubair M Ahmed, Thomas J Jaworek, Gowri N Sarangdhar, et al.European Journal of Human Genetics : EJHG|July 16, 2009
DFNB79: reincarnation of a nonsyndromic deafness locus on chromosome 9q34.3Shahid Yar Khan, Saima Riazuddin, Mohsin Shahzad, et al.Molecular Vision|January 16, 2014
AIPL1 implicated in the pathogenesis of two cases of autosomal recessive retinal degenerationDavid Li, Chongfei Jin, Xiaodong Jiao, et al.Molecular Vision|November 18, 2006
Mutations in the gene encoding the alpha-subunit of rod phosphodiesterase in consanguineous Pakistani familiesS Amer Riazuddin, Fareeha Zulfiqar, Qingjiong Zhang, et al.Pageof 22