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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
2005 1
2006 1
2007 4
2009 5
2010 12
2011 11
2012 7
2013 12
2014 12
2015 18
2016 9
2017 8
2018 8
2019 15
2020 22
2021 29
2022 20
2023 18
2024 5

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192 results

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Page 1
A genome-wide association study for survival from a multi-centre European study identified variants associated with COVID-19 risk of death.
Minnai F, Biscarini F, Esposito M, Dragani TA, Bujanda L, Rahmouni S, Alarcón-Riquelme ME, Bernardo D, Carnero-Montoro E, Buti M, Zeberg H, Asselta R, Romero-Gómez M; GEN-COVID Multicenter Study; Fernandez-Cadenas I, Fallerini C, Zguro K, Croci S, Baldassarri M, Bruttini M, Furini S, Renieri A, Colombo F. Minnai F, et al. Sci Rep. 2024 Feb 6;14(1):3000. doi: 10.1038/s41598-024-53310-x. Sci Rep. 2024. PMID: 38321133 Free PMC article.
Mitapivat reprograms the RBC metabolome and improves anemia in a mouse model of hereditary spherocytosis.
Matte A, Wilson AB, Gevi F, Federti E, Recchiuti A, Ferri G, Brunati AM, Pagano MA, Russo R, Leboeuf C, Janin A, Timperio AM, Iolascon A, Gremese E, Dang L, Mohandas N, Brugnara C, De Franceschi L. Matte A, et al. Among authors: russo r. JCI Insight. 2023 Oct 23;8(20):e172656. doi: 10.1172/jci.insight.172656. JCI Insight. 2023. PMID: 37676741 Free PMC article.
A multidisciplinary approach to inherited retinal dystrophies from diagnosis to initial care: a narrative review with inputs from clinical practice.
Murro V, Banfi S, Testa F, Iarossi G, Falsini B, Sodi A, Signorini S, Iolascon A, Russo R, Mucciolo DP, Caputo R, Bacci GM, Bargiacchi S, Turco S, Fortini S, Simonelli F. Murro V, et al. Among authors: russo r. Orphanet J Rare Dis. 2023 Jul 31;18(1):223. doi: 10.1186/s13023-023-02798-z. Orphanet J Rare Dis. 2023. PMID: 37525225 Free PMC article. Review.
Resources and tools for rare disease variant interpretation.
Licata L, Via A, Turina P, Babbi G, Benevenuta S, Carta C, Casadio R, Cicconardi A, Facchiano A, Fariselli P, Giordano D, Isidori F, Marabotti A, Martelli PL, Pascarella S, Pinelli M, Pippucci T, Russo R, Savojardo C, Scafuri B, Valeriani L, Capriotti E. Licata L, et al. Among authors: russo r. Front Mol Biosci. 2023 May 10;10:1169109. doi: 10.3389/fmolb.2023.1169109. eCollection 2023. Front Mol Biosci. 2023. PMID: 37234922 Free PMC article. Review.
192 results