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Page 1
SRD5A3-CDG: 3D structure modeling, clinical spectrum, and computer-based dysmorphic facial recognition.
Ben Ayed I, Ouarda W, Frikha F, Kammoun F, Souissi A, Ben Said M, Bouzid A, Elloumi I, Hamdani TM, Gharbi N, Baklouti N, Guirat M, Mejdoub F, Kharrat N, Boujelbene I, Abdelhedi F, Belguith N, Keskes L, Gibriel AA, Kamoun H, Triki C, Alimi AM, Masmoudi S. Ben Ayed I, et al. Among authors: kammoun f. Am J Med Genet A. 2021 Apr;185(4):1081-1090. doi: 10.1002/ajmg.a.62065. Epub 2021 Jan 6. Am J Med Genet A. 2021. PMID: 33403770
8q21.11 microdeletion syndrome: Delineation of HEY1 as a candidate gene in neurodevelopmental and cardiac defects.
Ben Ayed I, Bouzid A, Kammoun F, Souissi A, Jallouli O, Mallouli S, Guidara S, Loukil S, Aloulou H, Jbeli F, Aouichaoui S, Abid D, Abdelhedi F, Triki C, Kamoun H, Masmoudi S. Ben Ayed I, et al. Among authors: kammoun f. Mol Genet Genomic Med. 2021 Nov;9(11):e1811. doi: 10.1002/mgg3.1811. Epub 2021 Sep 22. Mol Genet Genomic Med. 2021. PMID: 34549899 Free PMC article.
28 results