Mofareh S. Alzahrani

发表

A digenic human immunodeficiency characterized by IFNAR1 and IFNGR2 mutations

R. Hoyos-Bachiloglu, R. Geha, J. Chou, 2017, The Journal of clinical investigation.

Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies

J. Schuurs-Hoeijmakers, A. Hoischen, J. Hehir-Kwa, 2019, Genome Medicine.

Mendelian Susceptibility to Mycobacterial Disease Caused by a Novel Founder IL12B Mutation in Saudi Arabia

J. Casanova, C. Deswarte, L. Abel, 2018, Journal of Clinical Immunology.

Dominant‐negative STAT1 SH2 domain mutations in unrelated patients with mendelian susceptibility to mycobacterial disease

J. Casanova, A. Abhyankar, M. Ohtsubo, 2012, Human mutation.

Inherited IL-12p40 Deficiency: Genetic, Immunologic, and Clinical Features of 49 Patients From 30 Kindreds (vol 92, pg 109, 2013)

Sami Al-Hajjar, C. Picard, L. Abel, 2013 .

Biallelic RIPK1 mutations in humans cause severe immunodeficiency, arthritis, and intestinal inflammation

S. Nejentsev, V. Plagnol, H. Wajant, 2018, Science.

Identification of a novel SBF2 missense mutation associated with a rare case of thrombocytopenia using whole-exome sequencing

Salwa Hindawi, Galila F. Zaher, G. Damanhouri, 2013, Journal of Thrombosis and Thrombolysis.

Three Types of Immunodeficiency, Centromeric Instability, and Facial Anomalies (ICF) Syndrome Identified by Whole-Exome Sequencing in Saudi Hypogammaglobulinemia Patients: Clinical, Molecular, and Cytogenetic Features

Murad K. Habazi, Mofareh S. Alzahrani, Hamza AlGhamdi, 2018, Journal of Clinical Immunology.

Multiple Family Members With Delayed Cord Separtion and Combined Immunodeficiency With Novel Mutation in IKBKB

F. Alkuraya, Z. Alsum, Nouf Alkhamis, 2020, Frontiers in Pediatrics.