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Human Genetics|August 2, 2021
New insights into Perrault syndrome, a clinically and genetically heterogeneous disorderRabia Faridi, Alessandro Rea, Cristina Fenollar-Ferrer, et al.
Plos One|January 31, 2017
Correction: Missense Mutations in CRYAB Are Liable for Recessive Congenital CataractsXiaodong Jiao, Shahid Y Khan, Bushra Irum, et al.
Nature Communications|June 24, 2021
CIB2 regulates mTORC1 signaling and is essential for autophagy and visual functionSaumil Sethna, Patrick A Scott, Arnaud P J Giese, et al.
Molecular Vision|May 2, 2020
Mutations in FYCO1 identified in families with congenital cataractsHira Iqbal, Shahid Y Khan, Lin Zhou, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)|October 12, 2011
Association of pathogenic mutations in TULP1 with retinitis pigmentosa in consanguineous Pakistani familiesMuhammad Iqbal, Muhammad Asif Naeem, S Amer Riazuddin, et al.
Journal of the Association for Research in Otolaryngology : JARO|April 14, 2010
CD44 is a marker for the outer pillar cells in the early postnatal mouse inner earRonna Hertzano, Chandrakala Puligilla, Siaw-Lin Chan, et al.
Journal of Human Genetics|June 3, 2011
Molecular and clinical studies of X-linked deafness among Pakistani familiesAli M Waryah, Zubair M Ahmed, Munir A Bhinder, et al.
American Journal of Human Genetics|February 23, 2010
Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79Atteeq Ur Rehman, Robert J Morell, Inna A Belyantseva, et al.
Molecular Vision|January 5, 2011
Mapping of a novel locus associated with autosomal recessive congenital cataract to chromosome 8pNamerah Sabir, S Amer Riazuddin, Haiba Kaul, et al.
Human Genetics|July 11, 2002
Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHICZubair M Ahmed, Tenesha N Smith, Saima Riazuddin, et al.
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