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American Journal of Medical Genetics. Part A|February 5, 2016
ADAT3-related intellectual disability: Further delineation of the phenotypeAyman W El-Hattab, Mohammed A Saleh, Amal Hashem, et al.
European Journal of Pediatrics|March 5, 2009
Novel FBP1 gene mutations in Arab patients with fructose-1,6-bisphosphatase deficiencyMuhammad Faiyaz-Ul-Haque, Mohammed Al-Owain, Fouad Al-Dayel, et al.
Annals of Saudi Medicine|June 5, 2014
Clinical, neuroimaging, and genetic features of L-2-hydroxyglutaric aciduria in Arab kindredsMuhammad Faiyaz-Ul-Haque, Moeenaldeen D Al-Sayed, Eissa Faqeih, et al.
Clinical & Developmental Immunology|January 4, 2011
Renal failure associated with APECED and terminal 4q deletion: evidence of autoimmune nephropathyMohammed Al-Owain, Namik Kaya, Hamad Al-Zaidan, et al.
European Journal of Medical Genetics|September 1, 2022
COVID-19 in Unvaccinated patients with inherited metabolic disorders: A single center experienceRuqaiah Altassan, Raashda A Sulaiman, Abdullah Alfalah, et al.
BMC Medical Genetics|July 6, 2011
A comprehensive introduction to the genetic basis of non-syndromic hearing loss in the Saudi Arabian populationFaiqa Imtiaz, Khalid Taibah, Khushnooda Ramzan, et al.
Journal of Medical Genetics|August 29, 2024
Loss-of-function variants in <i>JPH1</i> cause congenital myopathy with prominent facial and ocular involvementMridul Johari, Ana Topf, Chiara Folland, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 5, 2018
Corrigendum: Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretationDorota Monies, Sateesh Maddirevula, Wesam Kurdi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 7, 2017
Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretationDorota Monies, Sateesh Maddirevula, Wesam Kurdi, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|August 4, 2011
Phenotypical spectrum of cerebellar ataxia associated with a novel mutation in the CA8 gene, encoding carbonic anhydrase (CA) VIIINamik Kaya, Hesham Aldhalaan, Banan Al-Younes, et al.
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