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Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 5, 2019
Loss of function of SVBP leads to autosomal recessive intellectual disability, microcephaly, ataxia, and hypotoniaZafar Iqbal, Hasan Tawamie, Wei Ba, et al.Plos Genetics|September 17, 2013
An alteration in ELMOD3, an Arl2 GTPase-activating protein, is associated with hearing impairment in humansThomas J Jaworek, Elodie M Richard, Anna A Ivanova, et al.Genes|May 25, 2024
A Missense Variant in HACE1 Is Associated with Intellectual Disability, Epilepsy, Spasticity, and Psychomotor Impairment in a Pakistani KindredMuhammad A Usmani, Amama Ghaffar, Mohsin Shahzad, et al.Archives of Ophthalmology (Chicago, Ill. : 1960)|August 11, 2010
Ectopia lentis in a consanguineous pakistani family and a novel locus on chromosome 8qHaiba Kaul, S Amer Riazuddin, Zaheeruddin A Qazi, et al.Molecular Vision|February 18, 2010
A new locus for autosomal recessive congenital cataract identified in a Pakistani familyHaiba Kaul, S Amer Riazuddin, Afshan Yasmeen, et al.American Journal of Human Genetics|June 4, 2011
Mutations in FYCO1 cause autosomal-recessive congenital cataractsJianjun Chen, Zhiwei Ma, Xiaodong Jiao, et al.Molecular Vision|April 3, 2010
Autosomal recessive congenital cataract linked to EPHA2 in a consanguineous Pakistani familyHaiba Kaul, S Amer Riazuddin, Mariam Shahid, et al.Journal of Human Genetics|December 14, 2012
Phenotypic variability of CLDN14 mutations causing DFNB29 hearing loss in the Pakistani populationZil-e-Huma Bashir, Noreen Latief, Inna A Belyantseva, et al.Investigative Ophthalmology & Visual Science|June 7, 2011
Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genesJianjun Chen, Nizar Smaoui, Monia Ben Hamed Hammer, et al.Human Genetics|October 27, 2006
Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2-q13.3Shahid Y Khan, Saima Riazuddin, Muhammad Tariq, et al.Pageof 22