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The Italian National Rare Diseases Registry.
Taruscio D, Kodra Y, Ferrari G, Vittozzi L; National Rare Diseases Registry Collaborating Group. Taruscio D, et al. Blood Transfus. 2014 Apr;12 Suppl 3(Suppl 3):s606-13. doi: 10.2450/2014.0064-14s. Blood Transfus. 2014. PMID: 24922301 Free PMC article.
Improving diagnosis for rare diseases: the experience of the Italian undiagnosed Rare diseases network.
Salvatore M, Polizzi A, De Stefano MC, Floridia G, Baldovino S, Roccatello D, Sciascia S, Menegatti E, Remuzzi G, Daina E, Iatropoulos P, Bembi B, Da Riol RM, Ferlini A, Neri M, Novelli G, Sangiuolo F, Brancati F, Taruscio D. Salvatore M, et al. Among authors: daina e. Ital J Pediatr. 2020 Sep 14;46(1):130. doi: 10.1186/s13052-020-00883-8. Ital J Pediatr. 2020. PMID: 32928283 Free PMC article.
RIPK4 regulates cell-cell adhesion in epidermal development and homeostasis.
Fortugno P, Monetta R, Belli M, Botti E, Angelucci F, Palmerini MG, Nottola SA, De Luca C, Ceccarini M, Salvatore M, Bianchi L, Macioce P, Teson M, Ricci F; Italian Undiagnosed Diseases Network; Macchiarelli G, Didona B, Costanzo A, Castiglia D, Brancati F. Fortugno P, et al. Hum Mol Genet. 2022 Aug 17;31(15):2535-2547. doi: 10.1093/hmg/ddac046. Hum Mol Genet. 2022. PMID: 35220430
Rare autoimmune diseases.
Schieppati A, Daina E. Schieppati A, et al. Among authors: daina e. Adv Exp Med Biol. 2010;686:365-74. doi: 10.1007/978-90-481-9485-8_21. Adv Exp Med Biol. 2010. PMID: 20824456 Review.
Takayasu's arteritis: A study of 104 Italian patients.
Vanoli M, Daina E, Salvarani C, Sabbadini MG, Rossi C, Bacchiani G, Schieppati A, Baldissera E, Bertolini G; Itaka Study Group. Vanoli M, et al. Among authors: daina e. Arthritis Rheum. 2005 Feb 15;53(1):100-7. doi: 10.1002/art.20922. Arthritis Rheum. 2005. PMID: 15696576 Free article.
Why rare diseases are an important medical and social issue.
Schieppati A, Henter JI, Daina E, Aperia A. Schieppati A, et al. Among authors: daina e. Lancet. 2008 Jun 14;371(9629):2039-41. doi: 10.1016/S0140-6736(08)60872-7. Lancet. 2008. PMID: 18555915 Review. No abstract available.
48 results