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A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
Megarbane A, Bizzari S, Deepthi A, Sabbagh S, Mansour H, Chouery E, Hmaimess G, Jabbour R, Mehawej C, Alame S, Hani A, Hasbini D, Ghanem I, Koussa S, Al-Ali MT, Obeid M, Talea DB, Lefranc G, Lévy N, Leturcq F, El Hayek S, Delague V, Urtizberea JA. Megarbane A, et al. Among authors: el hayek s. J Neuromuscul Dis. 2022;9(1):193-210. doi: 10.3233/JND-210652. J Neuromuscul Dis. 2022. PMID: 34602496 Free PMC article.
Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases.
Nair P, Sabbagh S, Mansour H, Fawaz A, Hmaimess G, Noun P, Dagher R, Megarbane H, Hana S, Alame S, Lamaa M, Hasbini D, Farah R, Rajab M, Stora S, El-Tourjuman O, Abou Jaoude P, Chalouhi G, Sayad R, Gillart AC, Al-Ali M, Delague V, El-Hayek S, Mégarbané A. Nair P, et al. Among authors: el hayek s, el tourjuman o. Mol Genet Genomic Med. 2018 Nov;6(6):1041-1052. doi: 10.1002/mgg3.480. Epub 2018 Oct 7. Mol Genet Genomic Med. 2018. PMID: 30293248 Free PMC article.
Further Delineation of the TRAPPC6B Disorder: Report on a New Family and Review.
Nair P, El-Bazzal L, Mansour H, Sabbagh S, Al-Ali MT, Gambarini A, Delague V, El-Hayek S, Mégarbané A. Nair P, et al. Among authors: el hayek s, el bazzal l. J Pediatr Genet. 2019 Dec;8(4):252-256. doi: 10.1055/s-0039-1693664. Epub 2019 Jul 30. J Pediatr Genet. 2019. PMID: 31687267 Free PMC article.
Clinical and Genetic Features of Patients With Fanconi Anemia in Lebanon and Report on Novel Mutations in the FANCA and FANCG Genes.
Farah RA, Nair P, Koueik J, Yammine T, Khalifeh H, Korban R, Collet A, Khayat C, Dubois-Denghien C, Chouery E, Blanluet M, El-Hayek S, Stoppa-Lyonnet D, Megarbane A. Farah RA, et al. Among authors: el hayek s. J Pediatr Hematol Oncol. 2021 Jul 1;43(5):e727-e735. doi: 10.1097/MPH.0000000000001909. J Pediatr Hematol Oncol. 2021. PMID: 32947577
A novel PDE6D mutation in a patient with Joubert syndrome type 22 (JBTS22).
Mégarbané A, Hmaimess G, Bizzari S, El-Bazzal L, Al-Ali MT, Stora S, Delague V, El-Hayek S. Mégarbané A, et al. Among authors: el hayek s, el bazzal l. Eur J Med Genet. 2019 Nov;62(11):103576. doi: 10.1016/j.ejmg.2018.11.010. Epub 2018 Nov 10. Eur J Med Genet. 2019. PMID: 30423442
Developmental delay, intellectual disability, short stature, subglottic stenosis, hearing impairment, onychodysplasia of the index fingers, and distinctive facial features: A newly reported autosomal recessive syndrome.
Mégarbané A, Hana S, El-Hayek S, Gambarini A, Al-Ali MT, Delague V. Mégarbané A, et al. Among authors: el hayek s. Am J Med Genet A. 2020 Aug;182(8):1865-1872. doi: 10.1002/ajmg.a.61730. Epub 2020 Jul 2. Am J Med Genet A. 2020. PMID: 32618096
SOX11-related syndrome: report on a new case and review.
Wakim V, Nair P, Delague V, Bizzari S, Al-Ali MT, Castro C, Gambarini A, El-Hayek S, Megarbane A. Wakim V, et al. Among authors: el hayek s. Clin Dysmorphol. 2021 Jan;30(1):44-49. doi: 10.1097/MCD.0000000000000348. Clin Dysmorphol. 2021. PMID: 33086258 Review. No abstract available.
93 results