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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
2023 0

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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.
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
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.
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
Phoenix from the ashes: dramatic improvement in severe late-onset methylenetetrahydrofolate reductase (MTHFR) deficiency with a complete loss of vision.
Biesalski AS, Hoffjan S, Schneider R, Nguyen HP, Dekomien G, Lücke T, Schneider-Gold C, Matusche B, Gold R, Ayzenberg I. Biesalski AS, et al. Among authors: dekomien g. J Neurol. 2022 Apr;269(4):2206-2209. doi: 10.1007/s00415-021-10841-x. Epub 2021 Oct 17. J Neurol. 2022. PMID: 34657180 Free PMC article. No abstract available.
A large deletion in RPGR causes XLPRA in Weimaraner dogs.
Kropatsch R, Akkad DA, Frank M, Rosenhagen C, Altmüller J, Nürnberg P, Epplen JT, Dekomien G. Kropatsch R, et al. Among authors: dekomien g. Canine Genet Epidemiol. 2016 Jul 8;3:7. doi: 10.1186/s40575-016-0037-x. eCollection 2016. Canine Genet Epidemiol. 2016. PMID: 27398221 Free PMC article.
74 results