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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. 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 exome sequencing in 509 Middle Eastern families with suspected Mendelian diseases: The Qatari experience.
Al-Dewik N, Mohd H, Al-Mureikhi M, Ali R, Al-Mesaifri F, Mahmoud L, Shahbeck N, El-Akouri K, Almulla M, Al Sulaiman R, Musa S, Al-Marri AA, Richard G, Juusola J, Solomon BD, Alkuraya FS, Ben-Omran T. Al-Dewik N, et al. Am J Med Genet A. 2019 Jun;179(6):927-935. doi: 10.1002/ajmg.a.61126. Epub 2019 Mar 27. Am J Med Genet A. 2019. PMID: 30919572 Free PMC article.
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. 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.
Intrafamilial clinical heterogeneity of CSPP1-related ciliopathy.
Ben-Omran T, Alsulaiman R, Kamel H, Shaheen R, Alkuraya FS. Ben-Omran T, et al. Am J Med Genet A. 2015 Oct;167A(10):2478-80. doi: 10.1002/ajmg.a.37175. Epub 2015 May 22. Am J Med Genet A. 2015. PMID: 25997910 No abstract available.
26 results