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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.
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders.
Brancati F, Barrano G, Silhavy JL, Marsh SE, Travaglini L, Bielas SL, Amorini M, Zablocka D, Kayserili H, Al-Gazali L, Bertini E, Boltshauser E, D'Hooghe M, Fazzi E, Fenerci EY, Hennekam RC, Kiss A, Lees MM, Marco E, Phadke SR, Rigoli L, Romano S, Salpietro CD, Sherr EH, Signorini S, Stromme P, Stuart B, Sztriha L, Viskochil DH, Yuksel A, Dallapiccola B; International JSRD Study Group; Valente EM, Gleeson JG. Brancati F, et al. Am J Hum Genet. 2007 Jul;81(1):104-13. doi: 10.1086/519026. Epub 2007 May 18. Am J Hum Genet. 2007. PMID: 17564967 Free PMC article.
Leber's congenital amaurosis: is there an autistic component?
Fazzi E, Rossi M, Signorini S, Rossi G, Bianchi PE, Lanzi G. Fazzi E, et al. Dev Med Child Neurol. 2007 Jul;49(7):503-7. doi: 10.1111/j.1469-8749.2007.00503.x. Dev Med Child Neurol. 2007. PMID: 17593121 Free article.
90 results