Synofzik, Matthis

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Journal Article

Syrbe, Steffen; Hedrich, Ulrike B S; Riesch, Erik; Djémié, Tania; Müller, Stephan; Møller, Rikke S; Maher, Bridget; Hernandez-Hernandez, Laura; Synofzik, Matthis; Caglayan, Hande S; Arslan, Mutluay; Serratosa, José M; Nothnagel, Michael; May, Patrick; Krause, Roland; Löffler, Heidrun; Detert, Katja; Dorn, Thomas; Vogt, Heinrich; Krämer, Günter; ... (2015). De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. Nature genetics, 47(4), pp. 393-399. Nature America 10.1038/ng.3239

Lemke, Johannes R; Riesch, Erik; Scheurenbrand, Tim; Schubach, Max; Wilhelm, Christian; Steiner, Isabelle; Hansen, Jörg; Courage, Carolina; Gallati, Sabina; Bürki, Sarah; Strozzi, Susi; Simonetti, Barbara Goeggel; Grunt, Sebastian; Steinlin, Maja; Alber, Michael; Wolff, Markus; Klopstock, Thomas; Prott, Eva C; Lorenz, Rüdiger; Spaich, Christiane; ... (2012). Targeted next generation sequencing as a diagnostic tool in epileptic disorders. Epilepsia, 53(8), pp. 1387-98. Malden, Mass.: Wiley-Blackwell 10.1111/j.1528-1167.2012.03516.x

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