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Number of items: 6.

Rumping, Lynne; Büttner, Benjamin; Maier, Oliver; Rehmann, Holger; Lequin, Maarten; Schlump, Jan-Ulrich; Schmitt, Bernhard; Schiebergen-Bronkhorst, Birgit; Prinsen, Hubertus C M T; Losa, Michele; Fingerhut, Ralph; Lemke, Johannes R; Zwartkruis, Fried J T; Houwen, Roderick H J; Jans, Judith J M; Verhoeven-Duif, Nanda M; van Hasselt, Peter M; Jamra, Rami (2019). Identification of a Loss-of-Function Mutation in the Context of Glutaminase Deficiency and Neonatal Epileptic Encephalopathy. JAMA Neurology, 76(3):342.

Cassatella, Daniele; Howard, Sasha R; Acierno, James S; Xu, Cheng; Papadakis, Georgios E; Santoni, Federico A; Dwyer, Andrew A; Santini, Sara; Sykiotis, Gerasimos P; Chambion, Caroline; Meylan, Jenny; Marino, Laura; Favre, Lucie; Li, Jiankang; Liu, Xuanzhu; Zhang, Jianguo; Bouloux, Pierre-Marc; Geyter, Christian De; Paepe, Anne De; Dhillo, Waljit S; Ferrara, Jean-Marc; Hauschild, Michael; Lang-Muritano, Mariarosaria; Lemke, Johannes R; Flück, Christa; Nemeth, Attila; Phan-Hug, Franziska; Pignatelli, Duarte; Popovic, Vera; Pekic, Sandra; et al; Konrad, Daniel; et al (2018). Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures. European Journal of Endocrinology, 178(4):377-388.

Hansen, Jörg; Mohr, Julia; Bürki, Sarah; Lemke, Johannes R (2013). A case of cohesinopathy with a novel de-novo SMC1A splice site mutation. Clinical Dysmorphology, 22(4):143-145.

Lemke, Johannes R; Bürki, Sarah E (2013). Genetik der infantilen epileptischen Enzephalopathien. Epileptologie, 30:5-13.

Lemke, Johannes R; Lal, Dennis; Reinthaler, Eva M; Steiner, Isabelle; Nothnagel, Michael; Alber, Michael; Geider, Kirsten; Laube, Bodo; Schwake, Michael; Finsterwalder, Katrin; Franke, Andre; Schilhabel, Markus; Jähn, Johanna A; Muhle, Hiltrud; Boor, Rainer; Van Paesschen, Wim; Caraballo, Roberto; Fejerman, Natalio; Weckhuysen, Sarah; De Jonghe, Peter; Larsen, Jan; Møller, Rikke S; Hjalgrim, Helle; Addis, Laura; Tang, Shan; Hughes, Elaine; Pal, Deb K; Veri, Kadi; Vaher, Ulvi; Talvik, Tiina; Dimova, Petia; Guerrero López, Rosa; Serratosa, José M; Linnankivi, Tarja; Lehesjoki, Anna-Elina; Ruf, Susanne; Wolff, Markus; Buerki, Sarah; Wohlrab, Gabriele; Kroell, Judith; Datta, Alexandre N; Fiedler, Barbara; Kurlemann, Gerhard; Kluger, Gerhard; Hahn, Andreas; Haberlandt, D Edda; Kutzer, Christina; Sperner, Jürgen; Becker, Felicitas; Weber, Yvonne G; Feucht, Martha; Steinböck, Hannelore; Neophythou, Birgit; Ronen, Gabriel M; Gruber-Sedlmayr, Ursula; Geldner, Julia; Harvey, Robert J; Hoffmann, Per; Herms, Stefan; Altmüller, Janine; Toliat, Mohammad R; Thiele, Holger; Nürnberg, Peter; Wilhelm, Christian; Stephani, Ulrich; Helbig, Ingo; Lerche, Holger; Zimprich, Fritz; Neubauer, Bernd A; Biskup, Saskia; von Spiczak, Sarah (2013). Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. Nature Genetics, 45(9):1067-1072.

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; Rona, Sabine; Lakshminarasimhan, Maya; Kröll, Judith; Dorn, Thomas; Krämer, Günter; Synofzik, Matthis; Becker, Felicitas; Weber, Yvonne G; Lerche, Holger; Böhm, Detlef; et al (2012). Targeted next generation sequencing as a diagnostic tool in epileptic disorders. Epilepsia, 53(8):1387-1398.

This list was generated on Tue Jul 23 16:58:14 2019 CEST.