Header

UZH-Logo

Maintenance Infos

Browse by Creators

Navigate back| Up a level
Export as
Number of items: 4.

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.

Hoyer, Juliane; Ekici, Arif B; Endele, Sabine; Popp, Bernt; Zweier, Christiane; Wiesener, Antje; Wohlleber, Eva; Dufke, Andreas; Rossier, Eva; Petsch, Corinna; Zweier, Markus; Göhring, Ina; Zink, Alexander M; Rappold, Gudrun; Schröck, Evelin; Wieczorek, Dagmar; Riess, Olaf; Engels, Hartmut; Rauch, Anita; Reis, André (2012). Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability. American Journal of Human Genetics, 90(3):565-572.

Rauch, Anita; Wieczorek, Dagmar; Graf, Elisabeth; Wieland, Thomas; Endele, Sabine; Schwarzmayr, Thomas; Albrecht, Beate; Bartholdi, Deborah; Beygo, Jasmin; Di Donato, Nataliya; Dufke, Andreas; Cremer, Kirsten; Hempel, Maja; Horn, Denise; Hoyer, Juliane; Joset, Pascal; Röpke, Albrecht; Moog, Ute; Riess, Angelika; Thiel, Christian T; Tzschach, Andreas; Wiesener, Antje; Wohlleber, Eva; Zweier, Christiane; Ekici, Arif B; Zink, Alexander M; Rump, Andreas; Meisinger, Christa; Grallert, Harald; Sticht, Heinrich; Schenck, Annette; Engels, Hartmut; Rappold, Gudrun; Schröck, Evelin; Wieacker, Peter; Riess, Olaf; Meitinger, Thomas; Reis, André; Strom, Tim M (2012). Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet, 380(9854):1674-1682.

Manvelyan, Marina; Riegel, Mariluce; Santos, Monica; Fuster, Carme; Pellestor, Franck; Mazaurik, Marie-Luise; Schulze, Bernt; Polityko, Anna; Tittelbach, Hanne; Reising-Ackermann, Gisela; Belitz, Britta; Hehr, Ute; Kelbova, Christina; Volleth, Marianne; Gödde, Elisabeth; Anderson, Jasen; Küpferling, Peter; Köhler, Sigrid; Duba, Hans-Christoph; Dufke, Andreas; Aktas, Dilek; Martin, Thomas; Schreyer, Isolde; Ewers, Elisabeth; Reich, Daniela; Mrasek, Kristin; Weise, Anja; Liehr, Thomas (2008). Thirty-two new cases with small supernumerary marker chromosomes detected in connection with fertility problems: detailed molecular cytogenetic characterization and review of the literature. International Journal of Molecular Medicine, 21(6):705-714.

This list was generated on Sun Nov 19 23:04:49 2017 CET.