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Abdullah Alfalah
Abdullah Alfalah
Clinical Genetics Fellow,King Faisal Specialzied Hospital and Research Centre, Medical Genomics Dept
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Year
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
92020
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
42022
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
32023
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
22023
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
22023
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
22022
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
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