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Amna Othman
Amna Othman
Medical Genetics and Genomics fellow, NIH
Verified email at nih.gov
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Year
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
382021
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
182018
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
142020
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
92022
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
72022
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
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Articles 1–7