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

Year Number of Results
1998 1
2000 3
2002 3
2003 2
2004 1
2005 9
2006 6
2007 6
2008 3
2009 7
2010 9
2011 5
2012 3
2013 5
2014 4
2015 6
2016 6
2017 2
2018 2
2020 1
2021 2
2022 1
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74 results
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Page 1
Making sense of missense variants in TTN-related congenital myopathies.
Rees M, Nikoopour R, Fukuzawa A, Kho AL, Fernandez-Garcia MA, Wraige E, Bodi I, Deshpande C, Özdemir Ö, Daimagüler HS, Pfuhl M, Holt M, Brandmeier B, Grover S, Fluss J, Longman C, Farrugia ME, Matthews E, Hanna M, Muntoni F, Sarkozy A, Phadke R, Quinlivan R, Oates EC, Schröder R, Thiel C, Reimann J, Voermans N, Erasmus C, Kamsteeg EJ, Konersman C, Grosmann C, McKee S, Tirupathi S, Moore SA, Wilichowski E, Hobbiebrunken E, Dekomien G, Richard I, Van den Bergh P, Domínguez-González C, Cirak S, Ferreiro A, Jungbluth H, Gautel M. Rees M, et al. Among authors: dekomien g. Acta Neuropathol. 2021 Mar;141(3):431-453. doi: 10.1007/s00401-020-02257-0. Epub 2021 Jan 15. Acta Neuropathol. 2021. PMID: 33449170 Free PMC article.
Does delta-sarcoglycan-associated autosomal-dominant cardiomyopathy exist?
Bauer R, Hudson J, Müller HD, Sommer C, Dekomien G, Bourke J, Routledge D, Bushby K, Klepper J, Straub V. Bauer R, et al. Among authors: dekomien g. Eur J Hum Genet. 2009 Sep;17(9):1148-53. doi: 10.1038/ejhg.2009.17. Epub 2009 Mar 4. Eur J Hum Genet. 2009. PMID: 19259135 Free PMC article.
SOX9 duplication linked to intersex in deer.
Kropatsch R, Dekomien G, Akkad DA, Gerding WM, Petrasch-Parwez E, Young ND, Altmüller J, Nürnberg P, Gasser RB, Epplen JT. Kropatsch R, et al. Among authors: dekomien g. PLoS One. 2013 Sep 6;8(9):e73734. doi: 10.1371/journal.pone.0073734. eCollection 2013. PLoS One. 2013. PMID: 24040047 Free PMC article.
New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy.
Alonso-Pérez J, González-Quereda L, Bello L, Guglieri M, Straub V, Gallano P, Semplicini C, Pegoraro E, Zangaro V, Nascimento A, Ortez C, Comi GP, Dam LT, De Visser M, van der Kooi AJ, Garrido C, Santos M, Schara U, Gangfuß A, Løkken N, Storgaard JH, Vissing J, Schoser B, Dekomien G, Udd B, Palmio J, D'Amico A, Politano L, Nigro V, Bruno C, Panicucci C, Sarkozy A, Abdel-Mannan O, Alonso-Jimenez A, Claeys KG, Gomez-Andrés D, Munell F, Costa-Comellas L, Haberlová J, Rohlenová M, Elke V, De Bleecker JL, Dominguez-González C, Tasca G, Weiss C, Deconinck N, Fernández-Torrón R, López de Munain A, Camacho-Salas A, Melegh B, Hadzsiev K, Leonardis L, Koritnik B, Garibaldi M, de Leon-Hernández JC, Malfatti E, Fraga-Bau A, Richard I, Illa I, Díaz-Manera J. Alonso-Pérez J, et al. Among authors: dekomien g. Brain. 2020 Sep 1;143(9):2696-2708. doi: 10.1093/brain/awaa228. Brain. 2020. PMID: 32875335
A German family with glucocorticoid-remediable aldosteronism.
Vonend O, Altenhenne C, Büchner NJ, Dekomien G, Maser-Gluth C, Weiner SM, Sellin L, Hofebauer S, Epplen JT, Rump LC. Vonend O, et al. Among authors: dekomien g. Nephrol Dial Transplant. 2007 Apr;22(4):1123-30. doi: 10.1093/ndt/gfl706. Epub 2007 Feb 3. Nephrol Dial Transplant. 2007. PMID: 17277347
Evaluation of a Recently Established Test for Familial Hyperaldosteronism Type 1.
Dringenberg T, Sorokina M, Ehlers M, Dekomien G, Haase M, Schulze E, Quinkler M, Rump LC, Schott M, Willenberg HS. Dringenberg T, et al. Among authors: dekomien g. Horm Metab Res. 2016 Dec;48(12):865-868. doi: 10.1055/s-0042-121494. Epub 2016 Dec 6. Horm Metab Res. 2016. PMID: 27923252 No abstract available.
Sarcoglycanopathies: can muscle immunoanalysis predict the genotype?
Klinge L, Dekomien G, Aboumousa A, Charlton R, Epplen JT, Barresi R, Bushby K, Straub V. Klinge L, et al. Among authors: dekomien g. Neuromuscul Disord. 2008 Dec;18(12):934-41. doi: 10.1016/j.nmd.2008.08.003. Epub 2008 Nov 7. Neuromuscul Disord. 2008. PMID: 18996010
74 results