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Genetic characterization of Italian patients with Bardet-Biedl syndrome and correlation to ocular, renal and audio-vestibular phenotype: identification of eleven novel pathogenic sequence variants.
Esposito G, Testa F, Zacchia M, Crispo AA, Di Iorio V, Capolongo G, Rinaldi L, D'Antonio M, Fioretti T, Iadicicco P, Rossi S, Franzè A, Marciano E, Capasso G, Simonelli F, Salvatore F. Esposito G, et al. Among authors: franze a. BMC Med Genet. 2017 Feb 1;18(1):10. doi: 10.1186/s12881-017-0372-0. BMC Med Genet. 2017. PMID: 28143435 Free PMC article.
Audiometric evaluation of carriers of the connexin 26 mutation 35delG.
Franzé A, Caravelli A, Di Leva F, Marciano E, Auletta G, D'Aulos F, Saulino C, Esposito L, Carella M, Gasparini P. Franzé A, et al. Eur Arch Otorhinolaryngol. 2005 Nov;262(11):921-4. doi: 10.1007/s00405-005-0918-1. Epub 2005 May 14. Eur Arch Otorhinolaryngol. 2005. PMID: 15895291
126 results