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

Year Number of Results
2002 1
2003 2
2004 1
2005 1
2007 6
2008 4
2009 5
2010 3
2011 9
2012 6
2013 2
2014 12
2015 6
2016 17
2017 16
2018 10
2019 12
2020 13
2021 15
2022 14
2023 9
2024 2

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156 results

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Page 1
P4 Medicine versus Hippocrates.
Pulciani S, Di Lonardo A, Fagnani C, Taruscio D. Pulciani S, et al. Among authors: taruscio d. Ann Ist Super Sanita. 2017 Jul-Sep;53(3):185-191. doi: 10.4415/ANN_17_03_02. Ann Ist Super Sanita. 2017. PMID: 28956796 Free article. Review.
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: taruscio d. 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.
Prevalence of Spinal Muscular Atrophy in the Era of Disease-Modifying Therapies: An Italian Nationwide Survey.
Coratti G, Ricci M, Capasso A, D'amico A, Sansone V, Bruno C, Messina S, Ricci F, Mongini T, Coccia M, Siciliano G, Pegoraro E, Turri M, Filosto M, Comi G, Masson R, Maggi L, Bruno I, D'Angelo MG, Trabacca A, Vacchiano V, Donati M, Simone I, Ruggiero L, Varone A, Verriello L, Berardinelli A, Agosto C, Pini A, Maioli MA, Passamano L, Brighina F, Carboni N, Garibaldi M, Zuccarino R, Gagliardi D, Siliquini S, Previtali S, Taruscio D, Boccia S, Pera MC, Pane M, Mercuri E; ITASMAC working group. Coratti G, et al. Among authors: taruscio d. Neurology. 2023 Mar 14;100(11):522-528. doi: 10.1212/WNL.0000000000201654. Epub 2022 Dec 2. Neurology. 2023. PMID: 36460469 Free PMC article.
The case for open science: rare diseases.
Rubinstein YR, Robinson PN, Gahl WA, Avillach P, Baynam G, Cederroth H, Goodwin RM, Groft SC, Hansson MG, Harris NL, Huser V, Mascalzoni D, McMurry JA, Might M, Nellaker C, Mons B, Paltoo DN, Pevsner J, Posada M, Rockett-Frase AP, Roos M, Rubinstein TB, Taruscio D, van Enckevort E, Haendel MA. Rubinstein YR, et al. Among authors: taruscio d. JAMIA Open. 2020 Sep 11;3(3):472-486. doi: 10.1093/jamiaopen/ooaa030. eCollection 2020 Oct. JAMIA Open. 2020. PMID: 33426479 Free PMC article. Review.
Health Systems Sustainability and Rare Diseases.
Ferrelli RM, De Santis M, Egle Gentile A, Taruscio D. Ferrelli RM, et al. Among authors: taruscio d. Adv Exp Med Biol. 2017;1031:629-640. doi: 10.1007/978-3-319-67144-4_33. Adv Exp Med Biol. 2017. PMID: 29214595 Review.
Data Quality in Rare Diseases Registries.
Kodra Y, Posada de la Paz M, Coi A, Santoro M, Bianchi F, Ahmed F, Rubinstein YR, Weinbach J, Taruscio D. Kodra Y, et al. Among authors: taruscio d. Adv Exp Med Biol. 2017;1031:149-164. doi: 10.1007/978-3-319-67144-4_8. Adv Exp Med Biol. 2017. PMID: 29214570 Review.
The Italian registry for patients with Prader-Willi syndrome.
Salvatore M, Torreri P, Grugni G, Rocchetti A, Maghnie M, Patti G, Crinò A, Elia M, Greco D, Romano C, Franzese A, Mozzillo E, Colao A, Pugliese G, Pagotto U, Lo Preiato V, Scarano E, Schiavariello C, Tornese G, Fintini D, Bocchini S, Osimani S, De Sanctis L, Sacco M, Rutigliano I, Delvecchio M, Faienza MF, Wasniewska M, Corica D, Stagi S, Guazzarotti L, Maffei P, Dassie F, Taruscio D. Salvatore M, et al. Among authors: taruscio d. Orphanet J Rare Dis. 2023 Feb 15;18(1):28. doi: 10.1186/s13023-023-02633-5. Orphanet J Rare Dis. 2023. PMID: 36793093 Free PMC article.
[Rare diseases in post-genomic era.].
Pulciani S, Vittozzi A, Diemoz S, Nutile E, Taruscio D. Pulciani S, et al. Among authors: taruscio d. Recenti Prog Med. 2017 Jul-Aug;108(7):307-315. doi: 10.1701/2731.27836. Recenti Prog Med. 2017. PMID: 28845852 Review. Italian.
Future of Rare Diseases Research 2017-2027: An IRDiRC Perspective.
Austin CP, Cutillo CM, Lau LPL, Jonker AH, Rath A, Julkowska D, Thomson D, Terry SF, de Montleau B, Ardigò D, Hivert V, Boycott KM, Baynam G, Kaufmann P, Taruscio D, Lochmüller H, Suematsu M, Incerti C, Draghia-Akli R, Norstedt I, Wang L, Dawkins HJS; International Rare Diseases Research Consortium (IRDiRC). Austin CP, et al. Among authors: taruscio d. Clin Transl Sci. 2018 Jan;11(1):21-27. doi: 10.1111/cts.12500. Epub 2017 Oct 23. Clin Transl Sci. 2018. PMID: 28796445 Free PMC article. Review. No abstract available.
156 results