Auflistung Universitätsbibliographie nach Autor "Rossier, Eva"

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Auflistung Universitätsbibliographie nach Autor "Rossier, Eva"

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  • ANKRD11 variants: KBG syndrome and beyond
    Parenti, Ilaria; Mallozzi, Mark B.; Huening, Irina; Gervasini, Cristina; Kuechler, Alma; Agolini, Emanuele; Albrecht, Beate; Baquero-Montoya, Carolina; Bohring, Axel; Bramswig, Nuria C.; Busche, Andreas; Dalski, Andreas; Guo, Yiran; Hanker, Britta; Hellenbroich, Yorck; Horn, Denise; Innes, A. Micheil; Leoni, Chiara; Li, Yun R.; Lynch, Sally Ann; Mariani, Milena; Medne, Livija; Mikat, Barbara; Milani, Donatella; Onesimo, Roberta; Ortiz-Gonzalez, Xilma; Prott, Eva Christina; Reutter, Heiko; Rossier, Eva; Selicorni, Angelo; Wieacker, Peter; Wilkens, Alisha; Wieczorek, Dagmar; Zackai, Elaine H.; Zampino, Giuseppe; Zirn, Birgit; Hakonarson, Hakon; Deardorff, Matthew A.; Gillessen-Kaesbach, Gabriele; Kaiser, Frank J. (2021)
  • Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy
    Mignot, Cyril; Nava, Caroline; Ville, Dorothee; Sanlaville, Damien; Lesca, Gaetan; Rastetter, Agnes; Gachet, Benoit; Marie, Yannick; Korenke, G. Christoph; Borggraefe, Ingo; Hoffmann-Zacharska, Dorota; Szczepanik, Elzbieta; Rudzka-Dybala, Mariola; Yis, Uluc; Caglayan, Hande; Isapof, Arnaud; Marey, Isabelle; Panagiotakaki, Eleni; Korff, Christian; Rossier, Eva; Riess, Angelika; Beck-Woedl, Stefanie; Rauch, Anita; Zweier, Christiane; Hoyer, Juliane; Reis, Andre; Mironov, Mikhail; Bobylova, Maria; Mukhin, Konstantin; Hernandez-Hernandez, Laura; Maher, Bridget; Sisodiya, Sanjay; Kuhn, Marius; Glaeser, Dieter; Wechuysen, Sarah; Myers, Candace T.; Mefford, Heather C.; Biskup, Saskia; Lemke, Johannes R.; Heron, Delphine; Kluger, Gerhard; Depienne, Christel; von Stülpnagel, Celina; Hörtnagel, Konstanze (2016)
  • Haploinsufficiency of ARID1B, a Member of the SWI/SNF-A Chromatin-Remodeling Complex, Is a Frequent Cause of Intellectual Disability
    Hoyer, Juliane; Ekici, Arif B.; Endele, Sabine; Popp, Bernt; Zweier, Christiane; Wiesener, Antje; Wohlleber, Eva; Dufke, Andreas; Rossier, Eva; Petsch, Corinna; Zweier, Markus; Goehring, Ina; Zink, Alexander M.; Rappold, Gudrun; Schroeck, Evelin; Wieczorek, Dagmar; Riess, Olaf; Engels, Hartmut; Rauch, Anita; Reis, Andre (2012)
  • Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?
    Ehret, Julia K.; Engels, Hartmut; Cremer, Kirsten; Becker, Jessica; Zimmermann, Johannes P.; Wohlleber, Eva; Grasshoff, Ute; Rossier, Eva; Bonin, Michael; Mangold, Elisabeth; Bevot, Andrea; Schoen, Stefanie; Heilmann-Heimbach, Stefanie; Dennert, Nicola; Mathieu-Dramard, Michele; Lacaze, Elodie; Plessis, Ghislaine; de Broca, Alain; Jedraszak, Guillaume; Roethlisberger, Benno; Miny, Peter; Filges, Isabel; Dufke, Andreas; Andrieux, Joris; Lee, Jennifer A.; Zink, Alexander M. (2015)
  • New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndrome
    Beygo, Jasmin; Kuechler, Alma; Gillessen-Kaesbach, Gabriele; Albrecht, Beate; Eckle, Jonas; Eggermann, Thomas; Gellhaus, Alexandra; Kanber, Deniz; Kordass, Ulrike; Luedecke, Hermann-Josef; Purmann, Sabine; Rossier, Eva; van de Nes, Johannes; van der Werf, Ilse M.; Wenzel, Maren; Wieczorek, Dagmar; Horsthemke, Bernhard; Buiting, Karin (2017)
  • Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies
    Acuna-Hidalgo, Rocio; Deriziotis, Pelagia; Steehouwer, Marloes; Gilissen, Christian; Graham, Sarah A.; van Dam, Sipko; Hoover-Fong, Julie; Telegrafi, Aida B.; Destree, Anne; Smigiel, Robert; Lambie, Lindsday A.; Altunoglu, Umut; Lapi, Elisabetta; Uzielli, Maria Luisa; Aracena, Mariana; Nur, Banu G.; Mihci, Ercan; Moreira, Lilia M. A.; Ferreira, Viviane Borges; Horovitz, Dafne D. G.; da Rocha, Katia M.; Jezela-Stanek, Aleksandra; Brooks, Alice S.; Reutter, Heiko; Cohen, Julie S.; Fatemi, Ali; Smitka, Martin; Grebe, Theresa A.; Di Donato, Nataliya; Deshpande, Charu; Vandersteen, Anthony; Lourenco, Charles Marques; Dufke, Andreas; Rossier, Eva; Andre, Gwenaelle; Baumer, Alessandra; Spencer, Careni; McGaughran, Julie; Franke, Lude; Veltman, Joris A.; De Vries, Bert B. A.; Schinzel, Albert; Fisher, Simon E.; Hoischen, Alexander; van Bon, Bregje W.; Kayserili, Hülya (2017)