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Genes|August 23, 2020
Fetal Anomalies Associated with Novel Pathogenic Variants in TMEM94Mohamed H Al-Hamed, Nada Alsahan, Maha Tulbah, 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.BMC Research Notes|March 20, 2010
Novel mutations underlying argininosuccinic aciduria in Saudi ArabiaFaiqa Imtiaz, Moeen Al-Sayed, Danyah Trabzuni, et al.Journal of Nephrology|July 10, 2020
Novel loss of function variants in FRAS1 AND FREM2 underlie renal agenesis in consanguineous familiesMohamed H Al-Hamed, John A Sayer, Nada Alsahan, et al.Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis|December 15, 2015
Molecular characterization of novel splice site mutation causing protein C deficiencyMohamed H Al-Hamed, Fatma AlBatniji, Ghadah A AlDakheel, 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.Cells|June 11, 2025
The Generation of Two Induced Pluripotent Cell Lines from Patients with an Atypical Familial Form of Lung FibrosisEid Al-Mutairy, Somaya M Al Qattan, Faiqa Imtiaz, et al.European Journal of Pediatrics|December 12, 2013
Novel PHKG2 mutation causing GSD IX with prominent liver disease: report of three cases and review of literatureButhainah Albash, Faiqa Imtiaz, Hamad Al-Zaidan, 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.Molecular Pharmacology|February 24, 2004
An apamin- and scyllatoxin-insensitive isoform of the human SK3 channelOliver H Wittekindt, Violeta Visan, Hiroaki Tomita, et al.Pageof 7