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List of works by Faiqa Imtiaz

A comprehensive introduction to the genetic basis of non-syndromic hearing loss in the Saudi Arabian population ⬇️

scientific article published on July 4, 2011

A recessive form of Marshall syndrome is caused by a mutation in theCOL11A1gene: Figure 1 ⬇️

scientific article published on April 1, 2012

Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden

scientific article

Further Delineation of the Phenotype of Congenital Disorder of Glycosylation DPAGT1-CDG (CDG-Ij) Identified by Homozygosity Mapping ⬇️

scientific article published on September 6, 2011

Homozygosity mapping identifies a novel GIPC3 mutation causing congenital nonsyndromic hearing loss in a Saudi family ⬇️

scientific article published on March 16, 2013

Identification of Novel <i>CDH23</i> Variants Causing Moderate to Profound Progressive Nonsyndromic Hearing Loss

scientific article published on 09 December 2020

Identification of mutations causing hereditary tyrosinemia type I in patients of Middle Eastern origin ⬇️

scientific article published on June 30, 2011

Novel splice (IVS18+1G&gt;C) mutation in COL2A1 causing Kniest dysplasia ⬇️

scientific article published on 01 January 2013

Smith–Lemli–Opitz syndrome among Arabs ⬇️

scientific article published on July 18, 2011

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