Abeer Al‐Mostafa

Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies

Nisha Patel, Mohammed A. Aldahmesh, Hisham Alkuraya et al. · Genetics in Medicine · 2015 · 109 citations · Full text

Ocular Disease, Retina, Ophthalmology +4

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

Faiqa Imtiaz, Khalid Taibah, Khushnooda Ramzan et al. · BMC Medical Genetics · 2011 · 28 citations · Full text

Twenty novel mutations in BCKDHA, BCKDHB and DBT genes in a cohort of 52 Saudi Arabian patients with maple syrup urine disease

Faiqa Imtiaz, Abeer Al‐Mostafa, Rabab Allam et al. · Molecular Genetics and Metabolism Reports · 2017 · 24 citations · Full text

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

Faiqa Imtiaz, Abeer Al‐Mostafa, Zuhair N. Al‐Hassnan · JIMD Reports · 2011 · 23 citations · Full text

Autozygome maps dispensable DNA and reveals potential selective bias against nullizygosity

Hanif Khalak, Salma M. Wakil, Faiqa Imtiaz et al. · Genetics in Medicine · 2012 · 11 citations · Full text