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Gene symbol: JAG1. Disease: Alagille syndrome.
Conidi ME, Michelucci A, Maggiore G, Simi P. Conidi ME, et al. Among authors: michelucci a. Hum Genet. 2008 Oct;124(3):322. Hum Genet. 2008. PMID: 18846686 No abstract available.
Gene symbol: JAG1. Disease: Alagille syndrome.
Conidi ME, Michelucci A, Maggiore G, Simi P. Conidi ME, et al. Among authors: michelucci a. Hum Genet. 2008 Oct;124(3):321-2. Hum Genet. 2008. PMID: 18846680 No abstract available.
Gene symbol: JAG1. Disease: Alagille syndrome.
Conidi ME, Michelucci A, Maggiore G, Simi P. Conidi ME, et al. Among authors: michelucci a. Hum Genet. 2008 Oct;124(3):322. Hum Genet. 2008. PMID: 18846681 No abstract available.
A new truncating MPZ mutation associated with a very mild CMT1 B phenotype.
Piazza S, Baldinotti F, Fogli A, Conidi ME, Michelucci A, Ienco EC, Mancuso M, Simi P, Siciliano G. Piazza S, et al. Among authors: michelucci a. Neuromuscul Disord. 2010 Dec;20(12):817-9. doi: 10.1016/j.nmd.2010.08.003. Epub 2010 Sep 17. Neuromuscul Disord. 2010. PMID: 20850974
Identification of three novel mutations in the CHD7 gene in patients with clinical signs of typical or atypical CHARGE syndrome.
Michelucci A, Ghirri P, Iacopetti P, Conidi ME, Fogli A, Baldinotti F, Lunardi S, Forli F, Moscuzza F, Berrettini S, Boldrini A, Simi P, Pellegrini S. Michelucci A, et al. Int J Pediatr Otorhinolaryngol. 2010 Dec;74(12):1441-4. doi: 10.1016/j.ijporl.2010.09.006. Epub 2010 Oct 12. Int J Pediatr Otorhinolaryngol. 2010. PMID: 20943277
Gene symbol: CHD7. Disease: CHARGE syndrome.
Simi P, Michelucci A, Iacopetti P, Pellegrini S, Conidi ME. Simi P, et al. Among authors: michelucci a. Hum Genet. 2008 Jun;123(5):549. Hum Genet. 2008. PMID: 20960640 No abstract available.
301 results