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

Year Number of Results
1981 3
1982 2
1983 1
1984 1
1985 3
1986 3
1987 4
1988 2
1989 1
1990 6
1991 7
1992 9
1993 6
1994 6
1995 9
1996 3
1997 3
1998 3
1999 3
2000 10
2001 11
2002 6
2003 13
2004 13
2005 9
2006 19
2007 17
2008 9
2009 7
2010 9
2011 7
2012 5
2013 2
2014 1
2015 1
2016 2
2018 1
2019 2
2022 2
2023 2
2024 0

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208 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: varon r. Hum Mutat. 2019 Sep;40(9):1557-1578. doi: 10.1002/humu.23818. Hum Mutat. 2019. PMID: 31131967 Free PMC article.
Nijmegen Breakage Syndrome.
Varon R, Demuth I, Chrzanowska KH. Varon R, et al. 1999 May 17 [updated 2023 Nov 30]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 1999 May 17 [updated 2023 Nov 30]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301355 Free Books & Documents. Review.
[Distal spinal-muscular atrophy 1 (DSMA1 or SMARD1)].
Kaindl AM, Guenther UP, Rudnik-Schöneborn S, Varon R, Zerres K, Gressens P, Schuelke M, Hubner C, von Au K. Kaindl AM, et al. Among authors: varon r. Arch Pediatr. 2008 Oct;15(10):1568-72. doi: 10.1016/j.arcped.2008.07.014. Epub 2008 Sep 19. Arch Pediatr. 2008. PMID: 18804971 Review. French.
Transmission ratio distortion of mutations in the master regulator of centriole biogenesis PLK4.
Neitzel H, Varon R, Chughtai S, Dartsch J, Dutrannoy-Tönsing V, Nürnberg P, Nürnberg G, Schweiger M, Digweed M, Hildebrand G, Hackmann K, Holtgrewe M, Sarioglu N, Schulze B, Horn D, Sperling K. Neitzel H, et al. Among authors: varon r. Hum Genet. 2022 Nov;141(11):1785-1794. doi: 10.1007/s00439-022-02461-w. Epub 2022 May 10. Hum Genet. 2022. PMID: 35536377 Free PMC article.
Kinetic characterization of substrate-analogous inhibitors of tyrosinase.
Ortiz-Ruiz CV, Maria-Solano MA, Garcia-Molina Mdel M, Varon R, Tudela J, Tomas V, Garcia-Canovas F. Ortiz-Ruiz CV, et al. Among authors: varon r. IUBMB Life. 2015 Oct;67(10):757-67. doi: 10.1002/iub.1432. Epub 2015 Sep 24. IUBMB Life. 2015. PMID: 26399372 Free article.
208 results