Auflistung Universitätsbibliographie nach Autor "Tzschach, Andreas"

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Auflistung Universitätsbibliographie nach Autor "Tzschach, Andreas"

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  • Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12
    Goubau, Christophe; Devriendt, Koen; Van der Aa, Nathalie; Crepel, An; Wieczorek, Dagmar; Kleefstra, Tjitske; Willemsen, Marjolein H.; Rauch, Anita; Tzschach, Andreas; de Ravel, Thomy; Leemans, Peter; Van Geet, Chris; Buyse, Gunnar; Freson, Kathleen (2013)
  • Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study
    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; Ropke, 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; Schrock, Evelin; Wieacker, Peter; Riess, Olaf; Meitinger, Thomas; Reis, Andre; Strom, Tim M. (2012)
  • STXBP1 encephalopathy: a neurodevelopmental disorder including epilepsy
    Stamberger, Hannah; Nikanorova, Marina; Willemsen, Marjolein H.; Accorsi, Patrizia; Angriman, Marco; Baier, Hartmut; Benkel-Herrenbrueck, Ira; Benoit, Valerie; Budetta, Mauro; Caliebe, Almuth; Cantalupo, Gaetano; Capovilla, Giuseppe; Casara, Gianluca; Courage, Carolina; Deprez, Marie; Destree, Anne; Dilena, Robertino; Erasmus, Corrie E.; Fannemel, Madeleine; Fjaer, Roar; Giordano, Lucio; Helbig, Katherine L.; Heyne, Henrike O.; Klepper, Joerg; Kluger, Gerhard J.; Lederer, Damien; Lodi, Monica; Maier, Oliver; Merkenschlager, Andreas; Michelberger, Nina; Minetti, Carlo; Muhle, Hiltrud; Phalin, Judith; Ramsey, Keri; Romeo, Antonino; Schallner, Jens; Schanze, Ina; Shinawi, Marwan; Sleegers, Kristel; Sterbova, Katalin; Syrbe, Steffen; Traverso, Monica; Tzschach, Andreas; Uldall, Peter; Van Coster, Rudy; Verhelst, Helene; Viri, Maurizio; Winter, Susan; Wolff, Markus; Zenker, Martin; Zoccante, Leonardo; De Jonghe, Peter; Helbig, Ingo; Striano, Pasquale; Lemke, Johannes R.; Moller, Rikke S.; Weckhuysen, Sarah (2016)
  • Tentative Clinical Diagnosis of Lujan-Fryns Syndrome-A Conglomeration of Different Genetic Entities?
    Hackmann, Karl; Rump, Andreas; Haas, Stefan A.; Lemke, Johannes R.; Fryns, Jean-Pierre; Tzschach, Andreas; Wieczorek, Dagmar; Albrecht, Beate; Kuechler, Alma; Ripperger, Tim; Kobelt, Albrecht; Oexle, Konrad; Tinschert, Sigrid; Schrock, Evelin; Kalscheuer, Vera M.; Di Donato, Nataliya (2016)
  • The molecular and phenotypic spectrum of IQSEC2-related epilepsy
    Zerem, Ayelet; Haginoya, Kazuhiro; Lev, Dorit; Blumkin, Lubov; Kivity, Sara; Linder, Ilan; Shoubridge, Cheryl; Palmer, Elizabeth Emma; Field, Michael; Boyle, Jackie; Chitayat, David; Gaillard, William D.; Kossoff, Eric H.; Willems, Marjolaine; Genevieve, David; Tran-Mau-Them, Frederic; Epstein, Orna; Heyman, Eli; Dugan, Sarah; Masurel-Paulet, Alice; Piton, Ame'lie; Kleefstra, Tjitske; Pfundt, Rolph; Sato, Ryo; Tzschach, Andreas; Matsumoto, Naomichi; Saitsu, Hirotomo; Leshinsky-Silver, Esther; Lerman-Sagie, Tally (2016)
  • The power of the Mediator complex : Expanding the genetic architecture and phenotypic spectrum of MED12-related disorders
    Charzewska, A.; Maiwald, R.; Kahrizi, K.; Oehl-Jaschkowitz, B.; Dufke, A.; Lemke, J. R.; Enders, H.; Najmabadi, H.; Tzschach, A.; Hachmann, W.; Jensen, C.; Bienek, M.; Poznanski, J.; Nawara, M.; Chilarska, T.; Obersztyn, E.; Hoffman-Zacharska, D.; Gos, M.; Bal, J.; Kalscheuer, V. M. (2018)
  • Variants in CUL4B are Associated with Cerebral Malformations
    Vulto-van Silfhout, Anneke T.; Nakagawa, Tadashi; Bahi-Buisson, Nadia; Haas, Stefan A.; Hu, Hao; Bienek, Melanie; Vissers, Lisenka E. L. M.; Gilissen, Christian; Tzschach, Andreas; Busche, Andreas; Muesebeck, Joerg; Rump, Patrick; Mathijssen, Inge B.; Avela, Kristiina; Somer, Mirja; Doagu, Fatma; Philips, Anju K.; Rauch, Anita; Baumer, Alessandra; Voesenek, Krysta; Poirier, Karine; Vigneron, Jacqueline; Amram, Daniel; Odent, Sylvie; Nawara, Magdalena; Obersztyn, Ewa; Lenart, Jacek; Charzewska, Agnieszka; Lebrun, Nicolas; Fischer, Ute; Nillesen, Willy M.; Yntema, Helger G.; Jarvela, Irma; Ropers, Hans-Hilger; de Vries, Bert B. A.; Brunner, Han G.; van Bokhoven, Hans; Raymond, F. Lucy; Willemsen, Michel A. A. P.; Chelly, Jamel; Xiong, Yue; Barkovich, A. James; Kalscheuer, Vera M.; Kleefstra, Tjitske; de Brouwer, Arjan P. M. (2015)
  • X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity
    Czeschik, Johanna Christina; Bauer, Peter; Buiting, Karin; Dufke, Claudia; Guillen-Navarro, Encarna; Johnson, Diana S.; Koehler, Udo; Lopez-Gonzalez, Vanesa; Luedecke, Hermann-Josef; Male, Alison; Morrogh, Deborah; Riess, Angelika; Tzschach, Andreas; Wieczorek, Dagmar; Kuechler, Alma (2013)
  • Xq22.3-q23 deletion including ACSL4 in a patient with intellectual disability
    Gazou, Anastasia; Riess, Angelika; Grasshoff, Ute; Schaeferhoff, Karin; Bonin, Michael; Jauch, Anna; Riess, Olaf; Tzschach, Andreas (2013)