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Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene.
Denoyelle F, Weil D, Maw MA, Wilcox SA, Lench NJ, Allen-Powell DR, Osborn AH, Dahl HH, Middleton A, Houseman MJ, Dodé C, Marlin S, Boulila-ElGaïed A, Grati M, Ayadi H, BenArab S, Bitoun P, Lina-Granade G, Godet J, Mustapha M, Loiselet J, El-Zir E, Aubois A, Joannard A, Levilliers J, Garabédian EN, Mueller RF, Gardner RJ, Petit C, et al. Denoyelle F, et al. Among authors: garabedian en. Hum Mol Genet. 1997 Nov;6(12):2173-7. doi: 10.1093/hmg/6.12.2173. Hum Mol Genet. 1997. PMID: 9336442
[Hereditary sensorineural deafness].
Denoyelle F, Marlin S, Petit C, Garabédian EN. Denoyelle F, et al. Among authors: garabedian en. Rev Prat. 2000 Jan 15;50(2):146-9. Rev Prat. 2000. PMID: 10737085 French.
[Congenital sensorineural deafness and associated syndromes].
Moatti L, Garabedian EN, Lacombe H, Spir-Jacob C. Moatti L, et al. Among authors: garabedian en. Ann Otolaryngol Chir Cervicofac. 1990;107(3):181-6. Ann Otolaryngol Chir Cervicofac. 1990. PMID: 2188546 Review. French.
Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity.
Blons H, Feldmann D, Duval V, Messaz O, Denoyelle F, Loundon N, Sergout-Allaoui A, Houang M, Duriez F, Lacombe D, Delobel B, Leman J, Catros H, Journel H, Drouin-Garraud V, Obstoy MF, Toutain A, Oden S, Toublanc JE, Couderc R, Petit C, Garabédian EN, Marlin S. Blons H, et al. Among authors: garabedian en. Clin Genet. 2004 Oct;66(4):333-40. doi: 10.1111/j.1399-0004.2004.00296.x. Clin Genet. 2004. PMID: 15355436
225 results