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Journal of the Endocrine Society|December 11, 2024
Use of Whole-Exome Sequencing and Pedigree Analysis to Identify X-linked Hypophosphatemia in Saudi Arabian FamiliesMohamed H Al-Hamed, Sarah Bakhamis, Sara I Abdelfattah, et al.Frontiers in Endocrinology|May 2, 2025
Long-term outcomes of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a retrospective study from a tertiary care center in Saudi ArabiaHaneen Aldalaan, Afaf Alsagheir, Nujud Alghamdi, et al.Journal of the Neurological Sciences|July 18, 2016
Phenotypic comparison of individuals with homozygous or heterozygous mutation of NOTCH3 in a large CADASIL familyHussam Abou Al-Shaar, Najeeb Qadi, Mohamed H Al-Hamed, et al.Clinical Kidney Journal|December 21, 2016
Renal tubular dysgenesis: antenatal ultrasound scanning and molecular investigations in a Saudi Arabian familyMohamed H Al-Hamed, Wesam Kurdi, Nada Alsahan, et al.Genes|October 27, 2022
Missense Variants in GFRA1 and NPNT Are Associated with Congenital Anomalies of the Kidney and Urinary TractMohamed H Al-Hamed, John A Sayer, Nada Alsahan, et al.Genes|August 23, 2020
Fetal Anomalies Associated with Novel Pathogenic Variants in TMEM94Mohamed H Al-Hamed, Nada Alsahan, Maha Tulbah, et al.Clinical Genetics|March 5, 2022
A null founder variant in NPNT, encoding nephronectin, causes autosomal recessive renal agenesisMohamed H Al-Hamed, Norah Altuwaijri, Nada Alsahan, 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.Molecular Genetics & Genomic Medicine|January 24, 2025
Genetics of Primary Adrenal Insufficiency Beyond CAH in Saudi Arabian PopulationMohamed H Al-Hamed, Alya Qari, Lamya Alrayes, et al.Pageof 3