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European Journal of Medical Genetics|January 13, 2018
A retrospective biochemical, molecular, and neurocognitive review of Saudi patients with argininosuccinic aciduriaRuqaiah AlTassan, Dalal Bubshait, Faiqa Imtiaz, et al.Journal of Pediatric Genetics|May 17, 2021
Hepatic Manifestations of 3-Hydroxy-3-Methylglutaryl-Coenzyme-A Lyase Deficiency in Saudi Patients: Experience of a Tertiary Care CenterSinan Holdar, Zuhair Rahbeeni, Khushnooda Ramzan, et al.JIMD Reports|February 23, 2013
Further Delineation of the Phenotype of Congenital Disorder of Glycosylation DPAGT1-CDG (CDG-Ij) Identified by Homozygosity MappingFaiqa Imtiaz, Abeer Al-Mostafa, Zuhair N Al-HassnanBMC Medical Genetics|May 1, 2015
Variation in DNAH1 may contribute to primary ciliary dyskinesiaFaiqa Imtiaz, Rabab Allam, Khushnooda Ramzan, et al.Genetic Testing and Molecular Biomarkers|May 31, 2023
Identification of Variants Underlying Phenylalanine Hydroxylase Deficiency in Saudi ArabiaAmeera Balobaid, Faiqa Imtiaz, Khushnooda Ramzan, et al.American Journal of Medical Genetics. Part A|November 28, 2014
Tracheobronchial anomalies in a patient with Schimke immuno-osseous dysplasia (SIOD)Abdullah Mobeireek, Sarfraz Saleemi, Mohammad Khalid, et al.Hormone Research in Paediatrics|December 10, 2024
Long-Term Treatment for Laron Syndrome with IGF-1 Injection over 22 Years in Saudi Arabia: A Cohort StudyAbdullah Ali Alashwal, Areej Al-Fattani, Khushnooda Ramzan, et al.JIMD Reports|November 12, 2021
Clinical variability and outcome of succinyl-CoA:3-ketoacid CoA transferase deficiency caused by a single OXCT1 mutation: Report of 17 casesMalak A Alghamdi, Mohammed Tohary, Hamad Alzaidan, et al.European Journal of Medical Genetics|April 2, 2017
Juvenile hemochromatosis and hepatocellular carcinoma in a patient with a novel mutation in the HJV geneKhushnooda Ramzan, Faiqa Imtiaz, Hamad I Al-Ashgar, et al.Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis|March 3, 2021
A homozygous loss-of-function mutation in GP1BB causing variable clinical phenotypes in a family with Bernard-Soulier syndromeNouf Al-Numair, Khushnooda Ramzan, Laila Alquait, et al.Pageof 7