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List of works by S Amer Riazuddin

AIPL1 implicated in the pathogenesis of two cases of autosomal recessive retinal degeneration

scientific article published on 06 January 2014

Autosomal recessive congenital cataract linked to EPHA2 in a consanguineous Pakistani family

scientific article

Autosomal recessive congenital cataracts linked to HSF4 in a consanguineous Pakistani family

scientific article published on 09 December 2019

Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2-q13.3.

scientific article

Mapping of a new locus associated with autosomal recessive congenital cataract to chromosome 3q ⬇️

scientific article published on December 8, 2010

Mapping of a novel locus associated with autosomal recessive congenital cataract to chromosome 8p ⬇️

scientific article published on December 30, 2010

Molecular genetics of MARVELD2 and clinical phenotype in Pakistani and Slovak families segregating DFNB49 hearing loss

scientific article

Mutation in LIM2 Is Responsible for Autosomal Recessive Congenital Cataracts

scientific article

Mutations in GRM6 identified in consanguineous Pakistani families with congenital stationary night blindness

scientific article

Mutations in RLBP1 associated with fundus albipunctatus in consanguineous Pakistani families

scientific article

Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans

scientific article

Phenotypic variability of CLDN14 mutations causing DFNB29 hearing loss in the Pakistani population ⬇️

scientific article published on December 13, 2012

Splice-site mutations identified in PDE6A responsible for retinitis pigmentosa in consanguineous Pakistani families.

scientific article

The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3.

scientific article published on 10 August 2007

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