Gene therapy for spinal muscular atrophy: the Qatari experience HG Ali, K Ibrahim, MF Elsaid, RB Mohamed, MIA Abeidah, AO Al Rawwas, ... Gene Therapy 28 (10), 676-680, 2021 | 38 | 2021 |
Clinical genetics and genomic medicine in Qatar N Al‐Dewik, M Al‐Mureikhi, N Shahbeck, R Ali, F Al‐Mesaifri, L Mahmoud, ... Molecular genetics & genomic medicine 6 (5), 702, 2018 | 18 | 2018 |
A founder RAB27A variant causes Griscelli syndrome type 2 with phenotypic heterogeneity in Qatari families R Al‐Sulaiman, A Othman, K El‐Akouri, S Fareed, H AlMulla, A Sukik, ... American Journal of Medical Genetics Part A 182 (11), 2570-2580, 2020 | 14 | 2020 |
Disorders of histone methylation: molecular basis and clinical syndromes M Al Ojaimi, BJ Banimortada, A Othman, KM Riedhammer, M Almannai, ... Clinical Genetics 102 (3), 169-181, 2022 | 9 | 2022 |
Expanding on the phenotypic spectrum of Woodhouse‐Sakati syndrome due to founder pathogenic variant in DCAF17: Report of 58 additional patients from Qatar … R Ali, N Al‐Dewik, S Mohammed, M Elfituri, S Agouba, S Musa, ... American Journal of Medical Genetics Part A 188 (1), 116-129, 2022 | 7 | 2022 |
Recognition of Genetic Conditions After Learning With Images Created Using Generative Artificial Intelligence RL Waikel, AA Othman, T Patel, SL Hanchard, P Hu, ... JAMA Network Open 7 (3), e242609-e242609, 2024 | | 2024 |
Osteoglophonic Dysplasia Synonyms: FGFR1-Related Osteoglophonic Dysplasia, Osteoglophonic Dwarfism, Fairbank-Keats Syndrome AA Othman, HE Babcock, CR Ferreira | | |