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Mutation profile of BBS genes in patients with Bardet-Biedl syndrome: an Italian study.
Manara E, Paolacci S, D'Esposito F, Abeshi A, Ziccardi L, Falsini B, Colombo L, Iarossi G, Pilotta A, Boccone L, Guerri G, Monica M, Marta B, Maltese PE, Buzzonetti L, Rossetti L, Bertelli M. Manara E, et al. Among authors: colombo l. Ital J Pediatr. 2019 Jun 13;45(1):72. doi: 10.1186/s13052-019-0659-1. Ital J Pediatr. 2019. PMID: 31196119 Free PMC article.
Pathogenicity of new BEST1 variants identified in Italian patients with best vitelliform macular dystrophy assessed by computational structural biology.
Frecer V, Iarossi G, Salvetti AP, Maltese PE, Delledonne G, Oldani M, Staurenghi G, Falsini B, Minnella AM, Ziccardi L, Magli A, Colombo L, D'Esposito F, Miertus J, Viola F, Attanasio M, Maggio E, Bertelli M. Frecer V, et al. Among authors: colombo l. J Transl Med. 2019 Oct 1;17(1):330. doi: 10.1186/s12967-019-2080-3. J Transl Med. 2019. PMID: 31570112 Free PMC article.
803 results