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

Year Number of Results
1983 2
1984 1
1985 2
1987 5
1988 2
1989 4
1990 2
1991 2
1993 2
1994 1
1995 1
1996 2
1997 3
1998 3
1999 4
2000 1
2002 2
2004 4
2005 2
2006 2
2007 1
2008 2
2009 4
2010 3
2011 2
2012 1
2013 4
2014 6
2015 5
2016 4
2017 4
2018 3
2019 2
2020 3
2021 2
2022 2
2023 1
2024 1

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85 results

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Page 1
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.
Parsons MT, Tudini E, Li H, Hahnen E, Wappenschmidt B, Feliubadaló L, Aalfs CM, Agata S, Aittomäki K, Alducci E, Alonso-Cerezo MC, Arnold N, Auber B, Austin R, Azzollini J, Balmaña J, Barbieri E, Bartram CR, Blanco A, Blümcke B, Bonache S, Bonanni B, Borg Å, Bortesi B, Brunet J, Bruzzone C, Bucksch K, Cagnoli G, Caldés T, Caliebe A, Caligo MA, Calvello M, Capone GL, Caputo SM, Carnevali I, Carrasco E, Caux-Moncoutier V, Cavalli P, Cini G, Clarke EM, Concolino P, Cops EJ, Cortesi L, Couch FJ, Darder E, de la Hoya M, Dean M, Debatin I, Del Valle J, Delnatte C, Derive N, Diez O, Ditsch N, Domchek SM, Dutrannoy V, Eccles DM, Ehrencrona H, Enders U, Evans DG, Farra C, Faust U, Felbor U, Feroce I, Fine M, Foulkes WD, Galvao HCR, Gambino G, Gehrig A, Gensini F, Gerdes AM, Germani A, Giesecke J, Gismondi V, Gómez C, Gómez Garcia EB, González S, Grau E, Grill S, Gross E, Guerrieri-Gonzaga A, Guillaud-Bataille M, Gutiérrez-Enríquez S, Haaf T, Hackmann K, Hansen TVO, Harris M, Hauke J, Heinrich T, Hellebrand H, Herold KN, Honisch E, Horvath J, Houdayer C, Hübbel V, Iglesias S, Izquierdo A, James PA, Janssen LAM, Jeschke U, Kaulfuß S, Keupp K, Kiechle M, Kölbl A, Krieger S, Kruse TA, Kvist A,… See abstract for full author list ➔ Parsons MT, et al. Among authors: porfirio b. Hum Mutat. 2019 Sep;40(9):1557-1578. doi: 10.1002/humu.23818. Hum Mutat. 2019. PMID: 31131967 Free PMC article.
iNPH as a '2-hit' Intracranial Hydrodynamic Derangement Disease.
Gallina P, Porfirio B, Lolli F. Gallina P, et al. Among authors: porfirio b. Trends Mol Med. 2020 Jun;26(6):531-532. doi: 10.1016/j.molmed.2020.04.002. Epub 2020 Apr 25. Trends Mol Med. 2020. PMID: 32345531 No abstract available.
Fanconi's anemia.
Dallapiccola B, Porfirio B. Dallapiccola B, et al. Among authors: porfirio b. Haematologica. 1987 Nov-Dec;72(6 Suppl):42-8. Haematologica. 1987. PMID: 3127296 Review. No abstract available.
Aβ Clearance, "hub" of Multiple Deficiencies Leading to Alzheimer Disease.
Gallina P, Scollato A, Conti R, Di Lorenzo N, Porfirio B. Gallina P, et al. Among authors: porfirio b. Front Aging Neurosci. 2015 Oct 20;7:200. doi: 10.3389/fnagi.2015.00200. eCollection 2015. Front Aging Neurosci. 2015. PMID: 26539110 Free PMC article. Review. No abstract available.
Glaucoma in patients with shunt-treated normal pressure hydrocephalus.
Gallina P, Savastano A, Becattini E, Orlandini S, Scollato A, Rizzo S, Carreras G, Di Lorenzo N, Porfirio B. Gallina P, et al. Among authors: porfirio b. J Neurosurg. 2018 Oct;129(4):1078-1084. doi: 10.3171/2017.5.JNS163062. Epub 2017 Nov 17. J Neurosurg. 2018. PMID: 29148901
Ring 20 chromosome phenotype.
Porfirio B, Valorani MG, Giannotti A, Sabetta G, Dallapiccola B. Porfirio B, et al. J Med Genet. 1987 Jun;24(6):375-7. doi: 10.1136/jmg.24.6.375. J Med Genet. 1987. PMID: 3612710 Free PMC article.
The distribution of KIR-HLA functional blocks is different from north to south of Italy.
Fasano ME, Rendine S, Pasi A, Bontadini A, Cosentini E, Carcassi C, Capittini C, Cornacchini G, Espadas de Arias A, Garbarino L, Carella G, Mariotti ML, Mele L, Miotti V, Moscetti A, Nesci S, Ozzella G, Piancatelli D, Porfirio B, Riva MR, Romeo G, Tagliaferri C, Lombardo C, Testi M, Amoroso A, Martinetti M. Fasano ME, et al. Among authors: porfirio b. Tissue Antigens. 2014 Mar;83(3):168-73. doi: 10.1111/tan.12299. Tissue Antigens. 2014. PMID: 24571475
The metabonomic signature of celiac disease.
Bertini I, Calabrò A, De Carli V, Luchinat C, Nepi S, Porfirio B, Renzi D, Saccenti E, Tenori L. Bertini I, et al. Among authors: porfirio b. J Proteome Res. 2009 Jan;8(1):170-7. doi: 10.1021/pr800548z. J Proteome Res. 2009. PMID: 19072164
85 results