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Year Number of Results
2003 1
2004 1
2005 1
2006 1
2007 2
2008 5
2009 3
2010 1
2011 3
2012 5
2013 5
2014 2
2015 2
2016 5
2017 1
2018 3
2019 3
2020 2
2021 2
2022 3
2023 5
2024 1

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Page 1
Phenotype-driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders.
Marinakis NM, Svingou M, Veltra D, Kekou K, Sofocleous C, Tilemis FN, Kosma K, Tsoutsou E, Fryssira H, Traeger-Synodinos J. Marinakis NM, et al. Among authors: kosma k. Am J Med Genet A. 2021 Aug;185(8):2561-2571. doi: 10.1002/ajmg.a.62338. Epub 2021 May 19. Am J Med Genet A. 2021. PMID: 34008892
The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations.
Bladen CL, Salgado D, Monges S, Foncuberta ME, Kekou K, Kosma K, Dawkins H, Lamont L, Roy AJ, Chamova T, Guergueltcheva V, Chan S, Korngut L, Campbell C, Dai Y, Wang J, Barišić N, Brabec P, Lahdetie J, Walter MC, Schreiber-Katz O, Karcagi V, Garami M, Viswanathan V, Bayat F, Buccella F, Kimura E, Koeks Z, van den Bergen JC, Rodrigues M, Roxburgh R, Lusakowska A, Kostera-Pruszczyk A, Zimowski J, Santos R, Neagu E, Artemieva S, Rasic VM, Vojinovic D, Posada M, Bloetzer C, Jeannet PY, Joncourt F, Díaz-Manera J, Gallardo E, Karaduman AA, Topaloğlu H, El Sherif R, Stringer A, Shatillo AV, Martin AS, Peay HL, Bellgard MI, Kirschner J, Flanigan KM, Straub V, Bushby K, Verschuuren J, Aartsma-Rus A, Béroud C, Lochmüller H. Bladen CL, et al. Among authors: kosma k. Hum Mutat. 2015 Apr;36(4):395-402. doi: 10.1002/humu.22758. Epub 2015 Mar 17. Hum Mutat. 2015. PMID: 25604253 Free PMC article.
De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke.
Brunet T, Zott B, Lieftüchter V, Lenz D, Schmidt A, Peters P, Kopajtich R, Zaddach M, Zimmermann H, Hüning I, Ballhausen D, Staufner C, Bianzano A, Hughes J, Taylor RW, McFarland R, Devlin A, Mihaljević M, Barišić N, Rohlfs M, Wilfling S, Sondheimer N, Hewson S, Marinakis NM, Kosma K, Traeger-Synodinos J, Elbracht M, Begemann M, Trepels-Kottek S, Hasan D, Scala M, Capra V, Zara F, van der Ven AT, Driemeyer J, Apitz C, Krämer J, Strong A, Hakonarson H, Watson D, Mayr JA, Prokisch H, Meitinger T, Borggraefe I, Spiegler J, Baric I, Paolini M, Gerstl L, Wagner M. Brunet T, et al. Among authors: kosma k. Genet Med. 2024 Feb;26(2):101013. doi: 10.1016/j.gim.2023.101013. Epub 2023 Nov 1. Genet Med. 2024. PMID: 37924258
UBE3A, c.1347_1348delGA: a mutation in question.
Sofocleous C, Tzagkaraki E, Kosma K, Kanavakis E, Kitsiou-Tzeli S. Sofocleous C, et al. Among authors: kosma k. Clin Chem Lab Med. 2016 Apr;54(4):e143-4. doi: 10.1515/cclm-2015-0784. Clin Chem Lab Med. 2016. PMID: 26457786 No abstract available.
Excited-state dynamics of cytosine tautomers.
Kosma K, Schröter C, Samoylova E, Hertel IV, Schultz T. Kosma K, et al. J Am Chem Soc. 2009 Nov 25;131(46):16939-43. doi: 10.1021/ja907355a. J Am Chem Soc. 2009. PMID: 19874018
Higher vitamin B6 status is associated with improved survival among patients with stage I-III colorectal cancer.
Holowatyj AN, Ose J, Gigic B, Lin T, Ulvik A, Geijsen AJMR, Brezina S, Kiblawi R, van Roekel EH, Baierl A, Böhm J, Bours MJL, Brenner H, Breukink SO, Chang-Claude J, de Wilt JHW, Grady WM, Grünberger T, Gumpenberger T, Herpel E, Hoffmeister M, Keulen ETP, Kok DE, Koole JL, Kosma K, Kouwenhoven EA, Kvalheim G, Li CI, Schirmacher P, Schrotz-King P, Singer MC, van Duijnhoven FJB, van Halteren HK, Vickers K, Vogelaar FJ, Warby CA, Wesselink E, Ueland PM, Ulrich AB, Schneider M, Habermann N, Kampman E, Weijenberg MP, Gsur A, Ulrich CM. Holowatyj AN, et al. Among authors: kosma k. Am J Clin Nutr. 2022 Aug 4;116(2):303-313. doi: 10.1093/ajcn/nqac090. Am J Clin Nutr. 2022. PMID: 35394006 Free PMC article.
50 results