Further delineation of HIDEA syndrome S Maddirevula, T Ben‐Omran, M AlMureikhi, W Eyaid, H Arabi, ... American Journal of Medical Genetics Part A 182 (12), 2999-3006, 2020 | 9 | 2020 |
Clinical, Radiological, and Genetic Characterization of a Patient with a Novel Homoallelic Loss-of-Function Variant in DNM1 R AlTassan, H AlQudairy, R Alromayan, A Alfalah, OA AlHarbi, ... Genes 13 (12), 2252, 2022 | 4 | 2022 |
Novel biallelic variants expand the phenotype of NAA20‐related syndrome G D'Onofrio, C Cuccurullo, SK Larsen, M Severino, A D'Amico, K Brønstad, ... Clinical Genetics 104 (3), 371-376, 2023 | 3 | 2023 |
Clinical and molecular features of four families with CLDN10-related HELIX syndrome A Qudair, M Hussein, M Alowain, ZN Al-Hassnan, A Alfaifi, A Alfalah, ... European Journal of Medical Genetics 66 (12), 104886, 2023 | 2 | 2023 |
PRSS8, encoding prostasin, is mutated in patients with autosomal recessive ichthyosis HE Shamseldin, N Derar, H Alzaidan, N AlHathal, A Alfalah, ... Human Genetics 142 (4), 477-482, 2023 | 2 | 2023 |
COVID-19 in unvaccinated patients with inherited metabolic disorders: a single center experience R Altassan, RA Sulaiman, A Alfalah, W Alwagiat, E Megdad, D Alqasabi, ... European Journal of Medical Genetics 65 (11), 104602, 2022 | 2 | 2022 |
Clinical, radiological, and genetic characterization of a patient with a novel homoallelic loss-of-function variant in DNM1 H AlQudairy, R AlTassan, R Alromayan, A Alfalah, O AlHarbi, ... EUROPEAN JOURNAL OF HUMAN GENETICS 32, 206-206, 2024 | | 2024 |
A Toddler Survived a Complex Multi-Systemic Infantile Presentation of COG6-CDG H Hassan, A Elhomoudi, A Alfalah, A Abdellah, M Altassan, R Altassan Available at SSRN 4550895, 2023 | | 2023 |