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Krieger, Michael; Roos, Andreas; Stendel, Claudia; Claeys, Kristl G; Sonmez, Fatma Mujgan; Baudis, Michael; Bauer, Peter; Bornemann, Antje; de Goede, Christian; Dufke, Andreas; Finkel, Richard S; Goebel, Hans H; Häussler, Martin; Kingston, Helen; Kirschner, Janbernd; Medne, Livija; Muschke, Petra; Rivier, François; Rudnik-Schöneborn, Sabine; Spengler, Sabrina; Inzana, Francesca; Stanzial, Franco; Benedicenti, Francesco; Synofzik, Matthis; Lia Taratuto, Ana; Pirra, Laura; Tay, Stacey Kiat-Hong; Topaloglu, Haluk; Uyanik, Gökhan; Wand, Dorothea; Williams, Denise; Zerres, Klaus; Weis, Joachim; Senderek, Jan (2013). SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome. Brain, 136(12):3634-3644.

Klein, Andrea; Lillis, Suzanne; Munteanu, Iulia; Scoto, Mariacristina; Zhou, Haiyan; Quinlivan, Ros; Straub, Volker; Manzur, Adnan Y; Roper, Helen; Jeannet, Pierre-Yves; Rakowicz, Wojtek; Jones, David Hilton; Jensen, Uffe Birk; Wraige, Elizabeth; Trump, Natalie; Schara, Ulrike; Lochmuller, Hanns; Sarkozy, Anna; Kingston, Helen; Norwood, Fiona; Damian, Maxwell; Kirschner, Janbernd; Longman, Cheryl; Roberts, Mark; Auer-Grumbach, Michaela; Hughes, Imelda; Bushby, Kate; Sewry, Caroline; Robb, Stephanie; Abbs, Stephen; Jungbluth, Heinz; Muntoni, Francesco (2012). Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies. Human Mutation, 33(6):981-988.

This list was generated on Wed Jul 18 03:38:36 2018 CEST.