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Page 1
Genetic Analysis of Heterotaxy in a Consanguineous Cohort.
Al-Korashy M, Binomar H, Al-Mostafa A, Al-Mogarri I, Al-Oufi S, Al-Admawi M, Al-Jufan M, Echahidi N, Mokeem A, Alfares A, Ramzan K, Tulbah S, Al-Qahtani A, Takroni S, Maddirevula S, Al-Hassnan Z. Al-Korashy M, et al. Among authors: al mostafa a. Clin Genet. 2024 Nov 8. doi: 10.1111/cge.14641. Online ahead of print. Clin Genet. 2024. PMID: 39513328
Twenty novel mutations in BCKDHA, BCKDHB and DBT genes in a cohort of 52 Saudi Arabian patients with maple syrup urine disease.
Imtiaz F, Al-Mostafa A, Allam R, Ramzan K, Al-Tassan N, Tahir AI, Al-Numair NS, Al-Hamed MH, Al-Hassnan Z, Al-Owain M, Al-Zaidan H, Al-Amoudi M, Qari A, Balobaid A, Al-Sayed M. Imtiaz F, et al. Among authors: al mostafa a. Mol Genet Metab Rep. 2017 Apr 7;11:17-23. doi: 10.1016/j.ymgmr.2017.03.006. eCollection 2017 Jun. Mol Genet Metab Rep. 2017. PMID: 28417071 Free PMC article.
Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia.
Imtiaz F, Al-Mubarak BM, Al-Mostafa A, Al-Hamed M, Allam R, Al-Hassnan Z, Al-Owain M, Al-Zaidan H, Rahbeeni Z, Qari A, Faqeih EA, Alasmari A, Al-Mutairi F, Alfadhel M, Eyaid WM, Rashed MS, Al-Sayed M. Imtiaz F, et al. Among authors: al mostafa a. JIMD Rep. 2016;29:39-46. doi: 10.1007/8904_2014_297. Epub 2015 Nov 29. JIMD Rep. 2016. PMID: 26615597 Free PMC article.