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Pulmonary Circulation|August 11, 2021
Genetic basis of pulmonary arterial hypertension: a prospective study from a highly inbred populationAbdullah M Aldalaan, Khushnooda Ramzan, Sarfraz A Saleemi, et al.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.Intractable & Rare Diseases Research|September 28, 2016
Hemophagocytic lymphohistiocytosis: A rare cause of recurrent encephalopathyRaashda Ainuddin Sulaiman, Marwan Yassin Shaheen, Hamad Al-Zaidan, et al.Journal of Neurophysiology|July 28, 2017
Lethal digenic mutations in the K<sup>+</sup> channels Kir4.1 (<i>KCNJ10</i>) and SLACK (<i>KCNT1</i>) associated with severe-disabling seizures and neurodevelopmental delaySonia Hasan, Ameera Balobaid, Alessandro Grottesi, 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.Journal of Medical Genetics|October 12, 2012
Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutationRanad Shaheen, Anas M Alazami, Muneera J Alshammari, et al.American Journal of Medical Genetics. Part A|March 27, 2014
Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephalyEissa A Faqeih, Mohammed Al-Owain, Dilek Colak, 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.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.Molecular Genetics and Metabolism Reports|February 2, 2019
Spectrum of mutations underlying Propionic acidemia and further insight into a genotype-phenotype correlation for the common mutation in Saudi ArabiaMohamed H Al-Hamed, Faiqa Imtiaz, Zuhair Al-Hassnan, et al.Pageof 9