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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.
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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 4, 2008
Genome-wide gene expression profiling and mutation analysis of Saudi patients with Canavan diseaseNamik Kaya, Faiqa Imtiaz, Dilek Colak, et al.
Human Mutation|September 30, 2022
Exome sequencing unravels genetic variants associated with chronic kidney disease in Saudi Arabian patientsMohamed H Al-Hamed, Maged H Hussein, Yaser Shah, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|December 20, 2019
Identification of TMC1 as a relatively common cause for nonsyndromic hearing loss in the Saudi populationKhushnooda Ramzan, Mohammed Al-Owain, Nouf S Al-Numair, et al.
Genes|May 24, 2018
Validation of Ion TorrentTM Inherited Disease Panel with the PGMTM Sequencing Platform for Rapid and Comprehensive Mutation DetectionAbeer E Mustafa, Tariq Faquih, Batoul Baz, et al.
Molecular Genetics and Metabolism Reports|April 19, 2017
Twenty novel mutations in BCKDHA, BCKDHB and DBT genes in a cohort of 52 Saudi Arabian patients with maple syrup urine diseaseFaiqa Imtiaz, Abeer Al-Mostafa, Rabab Allam, et al.
Frontiers in Cell and Developmental Biology|December 15, 2023
Wild-type S100A3 and S100A13 restore calcium homeostasis and mitigate mitochondrial dysregulation in pulmonary fibrosis patient-derived cellsEid A Al-Mutairy, Somaya Al Qattan, Mohammed Khalid, et al.
JIMD Reports|November 30, 2015
Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic AcidemiaFaiqa Imtiaz, Bashayer M Al-Mubarak, Abeer Al-Mostafa, et al.
Proceedings of the National Academy of Sciences of the United States of America|May 11, 2016
ROR1 is essential for proper innervation of auditory hair cells and hearing in humans and miceOscar Diaz-Horta, Clemer Abad, Levent Sennaroglu, et al.
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