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Gene therapy for spinal muscular atrophy: the Qatari experience.
Ali HG, Ibrahim K, Elsaid MF, Mohamed RB, Abeidah MIA, Al Rawwas AO, Elshafey K, Almulla H, El-Akouri K, Almulla M, Othman A, Musa S, Al-Mesaifri F, Ali R, Shahbeck N, Al-Mureikhi M, Alsulaiman R, Alkaabi S, Ben-Omran T. Ali HG, et al. Among authors: othman a. Gene Ther. 2021 Nov;28(10-11):676-680. doi: 10.1038/s41434-021-00273-7. Epub 2021 Jul 19. Gene Ther. 2021. PMID: 34276047 Free PMC article.
A founder RAB27A variant causes Griscelli syndrome type 2 with phenotypic heterogeneity in Qatari families.
Al-Sulaiman R, Othman A, El-Akouri K, Fareed S, AlMulla H, Sukik A, Al-Mureikhi M, Shahbeck N, Ali R, Al-Mesaifri F, Musa S, Al-Mulla M, Ibrahim K, Mohamed K, Al-Nesef MA, Ehlayel M, Ben-Omran T. Al-Sulaiman R, et al. Among authors: othman a. Am J Med Genet A. 2020 Nov;182(11):2570-2580. doi: 10.1002/ajmg.a.61829. Epub 2020 Aug 28. Am J Med Genet A. 2020. PMID: 32856792
Expanding on the phenotypic spectrum of Woodhouse-Sakati syndrome due to founder pathogenic variant in DCAF17: Report of 58 additional patients from Qatar and literature review.
Ali R, Al-Dewik N, Mohammed S, Elfituri M, Agouba S, Musa S, Mahmoud L, Almulla M, El-Akouri K, Mohd H, Bux R, Almulla H, Othman A, Al-Mesaifri F, Shahbeck N, Al-Muriekhi M, Khalifa A, Al-Sulaiman R, Ben-Omran T. Ali R, et al. Among authors: othman a. Am J Med Genet A. 2022 Jan;188(1):116-129. doi: 10.1002/ajmg.a.62501. Epub 2021 Sep 30. Am J Med Genet A. 2022. PMID: 34590781 Review.
Clinical genetics and genomic medicine in Qatar.
Al-Dewik N, Al-Mureikhi M, Shahbeck N, Ali R, Al-Mesaifri F, Mahmoud L, Othman A, AlMulla M, Sulaiman RA, Musa S, Abdoh G, El-Akouri K, Solomon BD, Ben-Omran T. Al-Dewik N, et al. Among authors: othman a. Mol Genet Genomic Med. 2018 Sep;6(5):702-712. doi: 10.1002/mgg3.474. Mol Genet Genomic Med. 2018. PMID: 30264509 Free PMC article.
1,233 results