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Journal of Inherited Metabolic Disease|June 23, 2010
Medium-chain acyl-CoA dehydrogenase deficiency in Saudi Arabia: incidence, genotype, and preventive implicationsZuhair N Al-Hassnan, Faiqa Imtiaz, Mohamed Al-Amoudi, et al.
Diabetes/Metabolism Research and Reviews|October 9, 2007
Genetic study of Saudi diabetes (GSSD): significant association of the KCNJ11 E23K polymorphism with type 2 diabetesOsama Alsmadi, Khalid Al-Rubeaan, Salma M Wakil, et al.
Journal of Pediatric Gastroenterology and Nutrition|July 29, 2017
SLC5A1 Mutations in Saudi Arabian Patients With Congenital Glucose-Galactose MalabsorptionYasir Al-Suyufi, Khalid ALSaleem, Ali Al-Mehaidib, et al.
European Journal of Medical Genetics|February 17, 2015
Variable expression pattern in Donnai-Barrow syndrome: Report of two novel LRP2 mutations and review of the literatureOla Khalifa, Zahra Al-Sahlawi, Faiqa Imtiaz, et al.
Molecular Vision|August 10, 2012
USH1G with unique retinal findings caused by a novel truncating mutation identified by genome-wide linkage analysisFaiqa Imtiaz, Khalid Taibah, Ghada Bin-Khamis, et al.
European Journal of Medical Genetics|September 16, 2008
Array comparative genomic hybridization (aCGH) reveals the largest novel deletion in PCCA found in a Saudi family with propionic acidemiaNamik Kaya, Mohammad Al-Owain, Albandary Albakheet, et al.
American Journal of Medical Genetics. Part A|October 23, 2018
Delineating the phenotypic spectrum of hyperphosphatasia with mental retardation syndrome 4 in 14 patients of Middle-Eastern originAmeera Balobaid, Tawfeg Ben-Omran, Khushnooda Ramzan, et al.
American Journal of Medical Genetics. Part A|August 20, 2020
Genotype-phenotype correlation of 33 patients with maple syrup urine diseaseOla A Khalifa, Faiqa Imtiaz, Khushnooda Ramzan, et al.
Molecular Genetics and Metabolism|July 19, 2011
Identification of mutations causing hereditary tyrosinemia type I in patients of Middle Eastern originFaiqa Imtiaz, Mohamed S Rashed, Bashayer Al-Mubarak, et al.
Pediatric Nephrology (Berlin, Germany)|May 13, 2019
Bialleleic PKD1 mutations underlie early-onset autosomal dominant polycystic kidney disease in Saudi Arabian familiesMohamed H Al-Hamed, Nada Alsahan, Sarah J Rice, et al.
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