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

Year Number of Results
2005 2
2006 2
2007 1
2008 2
2009 3
2010 2
2011 1
2012 2
2013 1
2014 3
2018 3
2021 0
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21 results
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Page 1
Recommendations for Improving the Quality of Rare Disease Registries.
Kodra Y, Weinbach J, Posada-de-la-Paz M, Coi A, Lemonnier SL, van Enckevort D, Roos M, Jacobsen A, Cornet R, Ahmed SF, Bros-Facer V, Popa V, Van Meel M, Renault D, von Gizycki R, Santoro M, Landais P, Torreri P, Carta C, Mascalzoni D, Gainotti S, Lopez E, Ambrosini A, Müller H, Reis R, Bianchi F, Rubinstein YR, Lochmüller H, Taruscio D. Kodra Y, et al. Among authors: torreri p. Int J Environ Res Public Health. 2018 Aug 3;15(8):1644. doi: 10.3390/ijerph15081644. Int J Environ Res Public Health. 2018. PMID: 30081484 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: torreri p. 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.
A global benchmark study using affinity-based biosensors.
Rich RL, Papalia GA, Flynn PJ, Furneisen J, Quinn J, Klein JS, Katsamba PS, Waddell MB, Scott M, Thompson J, Berlier J, Corry S, Baltzinger M, Zeder-Lutz G, Schoenemann A, Clabbers A, Wieckowski S, Murphy MM, Page P, Ryan TE, Duffner J, Ganguly T, Corbin J, Gautam S, Anderluh G, Bavdek A, Reichmann D, Yadav SP, Hommema E, Pol E, Drake A, Klakamp S, Chapman T, Kernaghan D, Miller K, Schuman J, Lindquist K, Herlihy K, Murphy MB, Bohnsack R, Andrien B, Brandani P, Terwey D, Millican R, Darling RJ, Wang L, Carter Q, Dotzlaf J, Lopez-Sagaseta J, Campbell I, Torreri P, Hoos S, England P, Liu Y, Abdiche Y, Malashock D, Pinkerton A, Wong M, Lafer E, Hinck C, Thompson K, Primo CD, Joyce A, Brooks J, Torta F, Bagge Hagel AB, Krarup J, Pass J, Ferreira M, Shikov S, Mikolajczyk M, Abe Y, Barbato G, Giannetti AM, Krishnamoorthy G, Beusink B, Satpaev D, Tsang T, Fang E, Partridge J, Brohawn S, Horn J, Pritsch O, Obal G, Nilapwar S, Busby B, Gutierrez-Sanchez G, Gupta RD, Canepa S, Witte K, Nikolovska-Coleska Z, Cho YH, D'Agata R, Schlick K, Calvert R, Munoz EM, Hernaiz MJ, Bravman T, Dines M, Yang MH, Puskas A, Boni E, Li J, Wear M, Grinberg A, Baardsnes J, Dolezal O, Gainey M, Anderson H, Peng J, Lewis M, Spies P, Trinh Q, Bibikov S, Raymond J, Yousef M, Chandrasekaran V, Feng Y, Emerick A, Mundodo S, Guimaraes R, McGirr K, Li YJ, Hughes H, Mantz H, Skrabana R, Witmer M, Ballard J, Martin L, Skladal P, Korza G, Laird-Offringa I, Lee CS, Khadir A, Podlaski F, Neuner P, Rothacker J, Rafique A, Dankbar N, Kainz P, Gedig E, Vuyisich M, Boozer C, Ly N, Toews M, Uren A, Kalyuzhniy O, Lewis K, Chomey E, Pak BJ, Myszka DG. Rich RL, et al. Among authors: torreri p. Anal Biochem. 2009 Mar 15;386(2):194-216. doi: 10.1016/j.ab.2008.11.021. Epub 2008 Nov 27. Anal Biochem. 2009. PMID: 19133223 Free PMC article.
Understanding the role of the Q338H MUTYH variant in oxidative damage repair.
Turco E, Ventura I, Minoprio A, Russo MT, Torreri P, Degan P, Molatore S, Ranzani GN, Bignami M, Mazzei F. Turco E, et al. Among authors: torreri p. Nucleic Acids Res. 2013 Apr;41(7):4093-103. doi: 10.1093/nar/gkt130. Epub 2013 Mar 4. Nucleic Acids Res. 2013. PMID: 23460202 Free PMC article.
The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers.
Gainotti S, Torreri P, Wang CM, Reihs R, Mueller H, Heslop E, Roos M, Badowska DM, de Paulis F, Kodra Y, Carta C, Martìn EL, Miller VR, Filocamo M, Mora M, Thompson M, Rubinstein Y, Posada de la Paz M, Monaco L, Lochmüller H, Taruscio D. Gainotti S, et al. Among authors: torreri p. Eur J Hum Genet. 2018 May;26(5):631-643. doi: 10.1038/s41431-017-0085-z. Epub 2018 Feb 2. Eur J Hum Genet. 2018. PMID: 29396563 Free PMC article.
21 results