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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: fawaz a. 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.
The added value of WES reanalysis in the field of genetic diagnosis: lessons learned from 200 exomes in the Lebanese population.
Jalkh N, Corbani S, Haidar Z, Hamdan N, Farah E, Abou Ghoch J, Ghosn R, Salem N, Fawaz A, Djambas Khayat C, Rajab M, Mourani C, Moukarzel A, Rassi S, Gerbaka B, Mansour H, Baassiri M, Dagher R, Breich D, Mégarbané A, Desvignes JP, Delague V, Mehawej C, Chouery E. Jalkh N, et al. Among authors: fawaz a. BMC Med Genomics. 2019 Jan 21;12(1):11. doi: 10.1186/s12920-019-0474-y. BMC Med Genomics. 2019. PMID: 30665423 Free PMC article.
Dravet Syndrome in Lebanon: First Report on Cases with SCN1A Mutations.
Alame S, El-Houwayek E, Nava C, Sabbagh S, Fawaz A, Gillart AC, Hasbini D, Depienne C, Mégarbané A. Alame S, et al. Among authors: fawaz a. Case Rep Med. 2019 Jan 21;2019:5270503. doi: 10.1155/2019/5270503. eCollection 2019. Case Rep Med. 2019. PMID: 30805006 Free PMC article.
Contribution of copy number variants (CNVs) to congenital, unexplained intellectual and developmental disabilities in Lebanese patients.
Choucair N, Ghoch JA, Corbani S, Cacciagli P, Mignon-Ravix C, Salem N, Jalkh N, El Sabbagh S, Fawaz A, Ibrahim T, Villard L, Mégarbané A, Chouery E. Choucair N, et al. Among authors: fawaz a. Mol Cytogenet. 2015 Apr 9;8:26. doi: 10.1186/s13039-015-0130-y. eCollection 2015. Mol Cytogenet. 2015. PMID: 25922617 Free PMC article.
90 results