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The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children.
Elkhateeb N, Issa MY, Elbendary HM, Elnaggar W, Ramadan A, Rafat K, Kamel M, Abdel-Ghafar SF, Amer F, Hassaan HM, Trunzo R, Pereira C, Abdel-Hamid MS, D'Arco F, Bauer P, Bertoli-Avella AM, Girgis M, Gleeson JG, Zaki MS, Selim L. Elkhateeb N, et al. Among authors: zaki ms. Clin Genet. 2024 May;105(5):510-522. doi: 10.1111/cge.14481. Epub 2024 Jan 14. Clin Genet. 2024. PMID: 38221827
COFS syndrome with familial 1;16 translocation.
Temtamy SA, Meguid NA, Mahmoud A, Afifi HH, Gerzawy A, Zaki MS. Temtamy SA, et al. Among authors: zaki ms. Clin Genet. 1996 Oct;50(4):240-3. doi: 10.1111/j.1399-0004.1996.tb02635.x. Clin Genet. 1996. PMID: 9001808
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.
Bielas SL, Silhavy JL, Brancati F, Kisseleva MV, Al-Gazali L, Sztriha L, Bayoumi RA, Zaki MS, Abdel-Aleem A, Rosti RO, Kayserili H, Swistun D, Scott LC, Bertini E, Boltshauser E, Fazzi E, Travaglini L, Field SJ, Gayral S, Jacoby M, Schurmans S, Dallapiccola B, Majerus PW, Valente EM, Gleeson JG. Bielas SL, et al. Among authors: zaki ms. Nat Genet. 2009 Sep;41(9):1032-6. doi: 10.1038/ng.423. Epub 2009 Aug 9. Nat Genet. 2009. PMID: 19668216 Free PMC article.
Distinguishing 3 classes of corpus callosal abnormalities in consanguineous families.
Hanna RM, Marsh SE, Swistun D, Al-Gazali L, Zaki MS, Abdel-Salam GM, Al-Tawari A, Bastaki L, Kayserili H, Rajab A, Boglárka B, Dietrich RB, Dobyns WB, Truwit CL, Sattar S, Chuang NA, Sherr EH, Gleeson JG. Hanna RM, et al. Among authors: zaki ms. Neurology. 2011 Jan 25;76(4):373-82. doi: 10.1212/WNL.0b013e318208f492. Neurology. 2011. PMID: 21263138 Free PMC article.
295 results