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Gene|March 21, 2013
Homozygosity mapping identifies a novel GIPC3 mutation causing congenital nonsyndromic hearing loss in a Saudi familyKhushnooda Ramzan, Mohammed Al-Owain, Rabab Allam, et al.
The Journal of Biological Chemistry|December 1, 2016
Deficiency of a Retinal Dystrophy Protein, Acyl-CoA Binding Domain-containing 5 (ACBD5), Impairs Peroxisomal β-Oxidation of Very-long-chain Fatty AcidsYuichi Yagita, Kyoko Shinohara, Yuichi Abe, et al.
Journal of Pediatric Hematology/Oncology|May 25, 2017
Long-term Outcome of 4 Patients With Transcobalamin Deficiency Caused by 2 Novel TCN2 MutationsMarwan Nashabat, Gustavo Maegawa, Peter H Nissen, et al.
International Journal of Pediatric Otorhinolaryngology|January 9, 2014
COL4A4-related nephropathy caused by a novel mutation in a large consanguineous Saudi familyKhushnooda Ramzan, Faiqa Imtiaz, Khalid Taibah, et al.
American Journal of Medical Genetics. Part A|May 14, 2011
Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humansRanad Shaheen, Mohammed Al-Owain, Eissa Faqeih, et al.
Molecular Syndromology|June 28, 2021
Identification of the <i>TTC26</i> Splice Variant in a Novel Complex Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal ManifestationsMajid Alfadhel, Muhammad Umair, Bader Almuzzaini, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 1, 2012
Genomic analysis of pediatric cataract in Saudi Arabia reveals novel candidate disease genesMohammed A Aldahmesh, Arif O Khan, Jawahir Y Mohamed, et al.
American Journal of Medical Genetics. Part A|January 14, 2018
Spectrum of bone marrow pathology and hematological abnormalities in methylmalonic acidemiaNasir A Bakshi, Talal Al-Anzi, Said Y Mohamed, et al.
American Journal of Medical Genetics. Part A|May 8, 2021
The genotypic and phenotypic spectrum of pycnodysostosis in Saudi Arabia: Novel variants and clinical findingsAziza M Mushiba, Eissa Faqeih, Mohammed A Saleh, et al.
International Journal of Pediatric Otorhinolaryngology|April 2, 2018
Utility of whole exome sequencing in the diagnosis of Usher syndrome: Report of novel compound heterozygous MYO7A mutationsKhushnooda Ramzan, Mohammed Al-Owain, Rozeena Huma, et al.
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