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

Year Number of Results
2002 2
2004 2
2005 4
2006 4
2007 3
2008 2
2009 2
2010 3
2011 1
2013 3
2014 2
2015 2
2016 6
2017 5
2018 5
2019 8
2020 6
2021 2
2022 6
2023 4
2024 1

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60 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, K… See abstract for full author list ➔ Parsons MT, et al. Among authors: felbor u. Hum Mutat. 2019 Sep;40(9):1557-1578. doi: 10.1002/humu.23818. Hum Mutat. 2019. PMID: 31131967 Free PMC article.
Disorders Caused by Genetic Mosaicism.
Moog U, Felbor U, Has C, Zirn B. Moog U, et al. Among authors: felbor u. Dtsch Arztebl Int. 2020 Feb 21;116(8):119-125. doi: 10.3238/arztebl.2020.0119. Dtsch Arztebl Int. 2020. PMID: 32181732 Free PMC article. Review.
Postzygotic mosaicism in cerebral cavernous malformation.
Rath M, Pagenstecher A, Hoischen A, Felbor U. Rath M, et al. Among authors: felbor u. J Med Genet. 2020 Mar;57(3):212-216. doi: 10.1136/jmedgenet-2019-106182. Epub 2019 Aug 24. J Med Genet. 2020. PMID: 31446422 Free PMC article.
Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema.
Byrne AB, Brouillard P, Sutton DL, Kazenwadel J, Montazaribarforoushi S, Secker GA, Oszmiana A, Babic M, Betterman KL, Brautigan PJ, White M, Piltz SG, Thomas PQ, Hahn CN, Rath M, Felbor U, Korenke GC, Smith CL, Wood KH, Sheppard SE, Adams DM, Kariminejad A, Helaers R, Boon LM, Revencu N, Moore L, Barnett C, Haan E, Arts P, Vikkula M, Scott HS, Harvey NL. Byrne AB, et al. Among authors: felbor u. Sci Transl Med. 2022 Mar 2;14(634):eabm4869. doi: 10.1126/scitranslmed.abm4869. Epub 2022 Mar 2. Sci Transl Med. 2022. PMID: 35235341
Quantitative Diffusion-Weighted MRI of Neuroblastoma.
Abele N, Langner S, Felbor U, Lode H, Hosten N. Abele N, et al. Among authors: felbor u. Cancers (Basel). 2023 Mar 23;15(7):1940. doi: 10.3390/cancers15071940. Cancers (Basel). 2023. PMID: 37046600 Free PMC article.
Diagnostic Single Gene Analyses Beyond Sanger.
Najm J, Rath M, Schröder W, Felbor U. Najm J, et al. Among authors: felbor u. Hamostaseologie. 2018 Aug;38(3):158-165. doi: 10.5482/HAMO-17-01-0008. Epub 2018 Sep 27. Hamostaseologie. 2018. PMID: 30261521
Authors' response to the letter by Dr. Eisa-Beygi.
Reinhard M, Schuchardt F, Meckel S, Heinz J, Felbor U, Sure U, Geisen U. Reinhard M, et al. Among authors: felbor u. J Neurol Sci. 2016 Oct 15;369:392. doi: 10.1016/j.jns.2016.06.057. Epub 2016 Jun 28. J Neurol Sci. 2016. PMID: 27393041 No abstract available.
60 results