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Page 1
Endophilin A2 Deficiency Impairs Antibody Production in Humans.
Mehawej C, Chouery E, Farah R, Khalil A, Hachem SE, Corbani S, Delague V, Mansour I, Najemdeen T, Korban R, Faour WH, Lefranc G, Megarbane A. Mehawej C, et al. Among authors: corbani s. J Clin Immunol. 2024 Nov 5;45(1):37. doi: 10.1007/s10875-024-01827-1. J Clin Immunol. 2024. PMID: 39499372
Molecular study of WISP3 in nine families originating from the Middle-East and presenting with progressive pseudorheumatoid dysplasia: identification of two novel mutations, and description of a founder effect.
Delague V, Chouery E, Corbani S, Ghanem I, Aamar S, Fischer J, Levy-Lahad E, Urtizberea JA, Mégarbané A. Delague V, et al. Among authors: corbani s. Am J Med Genet A. 2005 Oct 1;138A(2):118-26. doi: 10.1002/ajmg.a.30906. Am J Med Genet A. 2005. PMID: 16152649
Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism.
Laurier V, Stoetzel C, Muller J, Thibault C, Corbani S, Jalkh N, Salem N, Chouery E, Poch O, Licaire S, Danse JM, Amati-Bonneau P, Bonneau D, Mégarbané A, Mandel JL, Dollfus H. Laurier V, et al. Among authors: corbani s. Eur J Hum Genet. 2006 Nov;14(11):1195-203. doi: 10.1038/sj.ejhg.5201688. Epub 2006 Jul 5. Eur J Hum Genet. 2006. PMID: 16823392
Mild Campomelic Dysplasia: Report on a Case and Review.
Corbani S, Chouery E, Eid B, Jalkh N, Ghoch JA, Mégarbané A. Corbani S, et al. Mol Syndromol. 2011 Jan;1(4):163-168. doi: 10.1159/000322861. Epub 2011 Jan 10. Mol Syndromol. 2011. PMID: 21373255 Free PMC article.
A novel deletion in ZBTB24 in a Lebanese family with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.
Chouery E, Abou-Ghoch J, Corbani S, El Ali N, Korban R, Salem N, Castro C, Klayme S, Azoury-Abou Rjeily M, Khoury-Matar R, Debo G, Germanos-Haddad M, Delague V, Lefranc G, Mégarbané A. Chouery E, et al. Among authors: corbani s. Clin Genet. 2012 Nov;82(5):489-93. doi: 10.1111/j.1399-0004.2011.01783.x. Epub 2011 Oct 5. Clin Genet. 2012. PMID: 21906047
25 results