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[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: taruscio d. 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 2021-2022].
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: taruscio d. Epidemiol Prev. 2024 Mar-Apr;48(2 Suppl 2):1-41. doi: 10.19191/EP24.2.S2.031. Epidemiol Prev. 2024. PMID: 38742380 Italian.
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.
Electronic reporting of rare endocrine conditions within a clinical network: results from the EuRRECa project.
Ali SR, Bryce J, Priego-Zurita AL, Cherenko M, Smythe C, de Rooij TM, Cools M, Danne T, Katugampola H, Dekkers OM, Hiort O, Linglart A, Netchine I, Nordenstrom A, Attila P, Persani L, Reisch N, Smyth A, Sumnik Z, Taruscio D, Visser WE, Pereira AM, Appelman-Dijkstra NM, Ahmed SF. Ali SR, et al. Among authors: taruscio d. Endocr Connect. 2023 Nov 20;12(12):e230434. doi: 10.1530/EC-23-0434. Print 2023 Dec 1. Endocr Connect. 2023. PMID: 37902973 Free PMC article.
Unmet needs in countries participating in the undiagnosed diseases network international: an international survey considering national health care and economic indicators.
Sciascia S, Roccatello D, Salvatore M, Carta C, Cellai LL, Ferrari G, Lumaka A, Groft S, Alanay Y, Azam M, Baynam G, Cederroth H, Cutiongco-de la Paz EM, Dissanayake VHW, Giugliani R, Gonzaga-Jauregui C, Hettiarachchi D, Kvlividze O, Landoure G, Makay P, Melegh B, Ozbek U, Puri RD, Romero VI, Scaria V, Jamuar SS, Shotelersuk V, Gahl WA, Wiafe SA, Bodamer O, Posada M, Taruscio D. Sciascia S, et al. Among authors: taruscio d. Front Public Health. 2023 Sep 26;11:1248260. doi: 10.3389/fpubh.2023.1248260. eCollection 2023. Front Public Health. 2023. PMID: 37822540 Free PMC article.
229 results