Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Results by year

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

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

208 results

Results by year

Filters applied: . Clear all
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, 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, 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.
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.
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 cooperativity of tyrosinase. A general mechanism.
Muñoz-Muñoz JL, Garcia-Molina F, Varon R, Tudela J, Garcia-Cánovas F, Rodríguez-López JN. Muñoz-Muñoz JL, et al. Among authors: varon r. Acta Biochim Pol. 2011;58(3):303-11. Epub 2011 Aug 29. Acta Biochim Pol. 2011. PMID: 21887411
Tyrosinase inactivation in its action on dopa.
Muñoz-Muñoz JL, Acosta-Motos JR, Garcia-Molina F, Varon R, Garcia-Ruíz PA, Tudela J, Garcia-Cánovas F, Rodríguez-López JN. Muñoz-Muñoz JL, et al. Among authors: varon r. Biochim Biophys Acta. 2010 Jul;1804(7):1467-75. doi: 10.1016/j.bbapap.2010.02.015. Epub 2010 Mar 6. Biochim Biophys Acta. 2010. PMID: 20215052
208 results