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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 1
2004 1
2005 1
2007 1
2008 1
2009 1
2010 1
2011 2
2012 1
2013 1
2014 1
2016 2
2017 3
2018 4
2019 2
2020 3
2021 2
2022 1
2024 0

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27 results

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Page 1
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: floridia g. 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.
Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome.
Brancati F, Camerota L, Colao E, Vega-Warner V, Zhao X, Zhang R, Bottillo I, Castori M, Caglioti A, Sangiuolo F, Novelli G, Perrotti N, Otto EA; Undiagnosed Disease Network Italy. Brancati F, et al. Eur J Hum Genet. 2018 Sep;26(9):1266-1271. doi: 10.1038/s41431-018-0183-6. Epub 2018 Jun 11. Eur J Hum Genet. 2018. PMID: 29891882 Free PMC article.
[Italian Cystic Fibrosis Registry (ICFR). Report 2019-2020].
Campagna G, Amato A, Majo F, Ferrari G, Quattrucci S, Padoan R, Floridia G, Salvatore D, Carnovale V, Puppo Fornaro G, Taruscio D, Salvatore M; Gruppo di lavoro RIFC. Campagna G, et al. Among authors: floridia g. Epidemiol Prev. 2022 Jul-Aug;46(4 Suppl 2):1-38. doi: 10.19191/EP22.4S2.060. Epidemiol Prev. 2022. PMID: 36102313 Free article. Italian.
[Italian Cystic Fibrosis Registry. Report 2011-2014].
Giordani B, Amato A, Majo F, Ferrari G, Quattrucci S, Minicucci L, Padoan R, Floridia G, Puppo Fornaro G, Taruscio D, Salvatore M; Gruppo di lavoro RIFC. Giordani B, et al. Among authors: floridia g. Epidemiol Prev. 2018 Jan-Feb;42(1S1):1-32. doi: 10.19191/EP18.1-S1.P001.001. Epidemiol Prev. 2018. PMID: 29506377 Free article. Italian.
[Italian Cystic Fibrosis Registry (ICFR). Report 2017-2018].
Campagna G, Amato A, Majo F, Ferrari G, Quattrucci S, Padoan R, Floridia G, Salvatore D, Carnovale V, Puppo Fornaro G, Taruscio D, Salvatore M; Gruppo di lavoro RIFC. Campagna G, et al. Among authors: floridia g. Epidemiol Prev. 2021 May-Jun;45(3 Suppl 1):1-37. doi: 10.19191/EP21.3.S1.050. Epidemiol Prev. 2021. PMID: 34132083 Free article. Italian.
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: floridia g. 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.
27 results