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Prenatal Diagnosis|February 25, 2009
Reliable prenatal diagnosis of Canavan disease by measuring N-acetylaspartate in amniotic fluid using liquid chromatography tandem mass spectrometryOsama Y Al-Dirbashi, Wesam Kurdi, Faiqa Imtiaz, et al.
Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis|July 4, 2019
First description of the molecular and clinical characterization of hereditary factor V deficiency in Saudi Arabia: report of four novel mutationsNouf S Al-Numair, Khushnooda Ramzan, Mahasen Saleh, et al.
Hormone Research in Paediatrics|July 26, 2017
Clinical, Endocrine, and Molecular Genetic Analysis of a Large Cohort of Saudi Arabian Patients with Laron SyndromeAbdullah A Al-Ashwal, Afaf Al-Sagheir, Khushnooda Ramzan, et al.
Genes|December 15, 2020
Identification of Novel CDH23 Variants Causing Moderate to Profound Progressive Nonsyndromic Hearing LossKhushnooda Ramzan, Nouf S Al-Numair, Sarah Al-Ageel, et al.
Genes|September 27, 2025
Detection of Chromosomal Aneuploidy Using Exome SequencingMohamed H Al-Hamed, Sateesh Maddirevula, Nabil Moghrabi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 29, 2016
Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burdenMohamed Abouelhoda, Turki Sobahy, Mohamed El-Kalioby, et al.
Genes|November 27, 2024
ANKS6 Variants Underlie Polycystic Kidneys in Prenatal and Neonatal CasesLama S Almohlesy, Faiqa Imtiaz, Maha Tulbah, et al.
European Journal of Medical Genetics|April 29, 2014
ILDR1: Novel mutation and a rare cause of congenital deafness in the Saudi Arabian populationKhushnooda Ramzan, Khalid Taibah, Asma I Tahir, et al.
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.
Endocrine Connections|June 17, 2021
25-Hydroxylase vitamin D deficiency in 27 Saudi Arabian subjects: a clinical and molecular report on CYP2R1 mutationsSarah Bakhamis, Faiqa Imtiaz, Khushnooda Ramzan, et al.
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