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Skipping of Exon 1 in the KCNQ1 gene causes Jervell and Lange-Nielsen syndrome.
Zehelein J, Kathoefer S, Khalil M, Alter M, Thomas D, Brockmeier K, Ulmer HE, Katus HA, Koenen M. Zehelein J, et al. Among authors: kathoefer s. J Biol Chem. 2006 Nov 17;281(46):35397-403. doi: 10.1074/jbc.M603433200. Epub 2006 Sep 19. J Biol Chem. 2006. PMID: 16987820 Free article.
Detection of paroxysmal atrial fibrillation in acute stroke patients.
Rizos T, Rasch C, Jenetzky E, Hametner C, Kathoefer S, Reinhardt R, Hepp T, Hacke W, Veltkamp R. Rizos T, et al. Among authors: kathoefer s. Cerebrovasc Dis. 2010;30(4):410-7. doi: 10.1159/000316885. Epub 2010 Aug 18. Cerebrovasc Dis. 2010. PMID: 20720410