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Leber's congenital amaurosis: an update.
Fazzi E, Signorini SG, Scelsa B, Bova SM, Lanzi G. Fazzi E, et al. Among authors: signorini sg. Eur J Paediatr Neurol. 2003;7(1):13-22. doi: 10.1016/s1090-3798(02)00135-6. Eur J Paediatr Neurol. 2003. PMID: 12615170 Review.
Visual function in infants with West syndrome: correlation with EEG patterns.
Randò T, Bancale A, Baranello G, Bini M, De Belvis AG, Epifanio R, Frisone MF, Guzzetta A, La Torre G, Ricci D, Signorini S, Tinelli F, Biagioni E, Veggiotti P, Mercuri E, Fazzi E, Cioni G, Guzzetta F. Randò T, et al. Epilepsia. 2004 Jul;45(7):781-6. doi: 10.1111/j.0013-9580.2004.41403.x. Epilepsia. 2004. PMID: 15230702 Free article.
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome.
Valente EM, Silhavy JL, Brancati F, Barrano G, Krishnaswami SR, Castori M, Lancaster MA, Boltshauser E, Boccone L, Al-Gazali L, Fazzi E, Signorini S, Louie CM, Bellacchio E; International Joubert Syndrome Related Disorders Study Group; Bertini E, Dallapiccola B, Gleeson JG. Valente EM, et al. Nat Genet. 2006 Jun;38(6):623-5. doi: 10.1038/ng1805. Epub 2006 May 7. Nat Genet. 2006. PMID: 16682970
90 results