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289 results

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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: polizzi a. 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.
The Italian National Centre for Rare Diseases: where research and public health translate into action.
Taruscio D, Agresta L, Amato A, Bernardo G, Bernardo L, Braguti F, Carbone P, Carta C, Ceccarini M, Censi F, Coppola S, Crialese P, De Santis M, Diemoz S, Donati C, Gainotti S, Ferrari G, Floridia G, Frank C, Frazzica RG, Gentile AE, Granata O, Kodra Y, Latrofa M, Laricchiuta P, Magrelli A, Morciano C, Polizzi A, Razeto S, Salvatore M, Sanseverino A, Savini D, Torreri P, Tosto F, Villani F, Vincenti G, Vittozzi L. Taruscio D, et al. Among authors: polizzi a. Blood Transfus. 2014 Apr;12 Suppl 3(Suppl 3):s591-605. doi: 10.2450/2014.0040-14s. Blood Transfus. 2014. PMID: 24922300 Free PMC article. Review. No abstract available.
Rare diseases research and practice.
Polizzi A, Balsamo A, Bal MO, Taruscio D. Polizzi A, et al. Endocr Dev. 2014;27:234-56. doi: 10.1159/000363670. Epub 2014 Sep 9. Endocr Dev. 2014. PMID: 25247660 Review.
Competing to raise awareness of rare diseases.
Polizzi A, Gentile AE, Taruscio D. Polizzi A, et al. Lancet Neurol. 2019 Aug;18(8):721-722. doi: 10.1016/S1474-4422(18)30437-X. Epub 2018 Nov 15. Lancet Neurol. 2019. PMID: 30447970 No abstract available.
Neurocutaneous syndromes in art and antiquities.
Ruggieri M, Gentile AE, Ferrara V, Papi M, Praticò AD, Mudry A, Taruscio D, Micali G, Polizzi A. Ruggieri M, et al. Among authors: polizzi a. Am J Med Genet C Semin Med Genet. 2021 Jun;187(2):224-234. doi: 10.1002/ajmg.c.31917. Epub 2021 May 20. Am J Med Genet C Semin Med Genet. 2021. PMID: 34013593 Free PMC article. Review.
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
Multiple sclerosis with onset at 35 months of age.
Ruggieri M, Fiumara A, Grimaldi LM, Polizzi A, Pavone L. Ruggieri M, et al. Among authors: polizzi a. Clin Pediatr (Phila). 1996 Apr;35(4):209-12. doi: 10.1177/000992289603500406. Clin Pediatr (Phila). 1996. PMID: 8665755 No abstract available.
289 results