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Eine Ebene höherGruppiert nach: Dokumententyp |
Veröffentlichungsdatum
Anzahl der Publikationen: 4
2024
Brugger, Melanie; Lauri, Antonella; Zhen, Yan; Gramegna, Laura L.; Zott, Benedikt; Sekulic, Nikolina; Fasano, Giulia; Kopajtich, Robert; Cordeddu, Viviana; Radio, Francesca Clementina; Mancini, Cecilia; Pizzi, Simone; Paradisi, Graziamaria; Zanni, Ginevra; Vasco, Gessica; Carrozzo, Rosalba; Palombo, Flavia; Tonon, Caterina; Lodi, Raffaele; Morgia, Chiara La; Arelin, Maria; Blechschmidt, Cristiane; Finck, Tom; Sorensen, Vigdis; Kreiser, Kornelia; Strobl-Wildemann, Gertrud; Daum, Hagit; Michaelson-Cohen, Rachel; Ziccardi, Lucia; Zampino, Giuseppe; Prokisch, Holger; Jamra, Rami Abou; Fiorini, Claudio; Arzberger, Thomas; Winkelmann, Juliane; Caporali, Leonardo; Carelli, Valerio; Stenmark, Harald; Tartaglia, Marco und Wagner, Matias
(2024):
Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy.
In: American Journal of Human Genetics, Bd. 111, Nr. 3
[PDF, 7MB]
2021
Brunet, Theresa; Jech, Robert; Brugger, Melanie; Kovacs, Reka; Alhaddad, Bader; Leszinski, Gloria; Riedhammer, Korbinian M.; Westphal, Dominik S.; Mahle, Isabella; Mayerhanser, Katharina; Skorvanek, Matej; Weber, Sandrina; Graf, Elisabeth; Berutti, Riccardo; Necpal, Jan; Havrankova, Petra; Pavelekova, Petra; Hempel, Maja; Kotzaeridou, Urania; Hoffmann, Georg F.; Leiz, Steffen; Makowski, Christine; Roser, Timo; Schroeder, Sebastian A.; Steinfeld, Robert; Strobl-Wildemann, Gertrud; Hoefele, Julia; Borggraefe, Ingo; Distelmaier, Felix; Strom, Tim M.; Winkelmann, Juliane; Meitinger, Thomas; Zech, Michael und Wagner, Matias
(2021):
De novo variants in neurodevelopmental disorders-experiences from a tertiary care center.
In: Clinical Genetics, Bd. 100, Nr. 1: S. 14-28
[PDF, 2MB]
2016
Herbst, Saskia M.; Proepper, Christiane R.; Geis, Tobias; Borggraefe, Ingo; Hahn, Andreas; Debus, Otfried; Haeussler, Martin; Gersdorff, Gero von; Kurlemann, Gerhard; Ensslen, Matthias; Beaud, Nathalie; Budde, Joerg; Gilbert, Michael; Heiming, Ralf; Morgner, Rita; Philippi, Heike; Ross, Sophia; Strobl-Wildemann, Gertrud; Muelleder, Kerstin; Vosschulte, Paul; Morris-Rosendahl, Deborah J.; Schuierer, Gerhard und Hehr, Ute
(2016):
LIS1-associated classic lissencephaly: A retrospective, multicenter survey of the epileptogenic phenotype and response to antiepileptic drugs.
In: Brain & Development, Bd. 38, Nr. 4: S. 399-406
2013
Wildhardt, Gabriele; Zirn, Birgit; Graul-Neumann, Luitgard M.; Wechtenbruch, Juliane; Suckfuell, Markus; Buske, Annegret; Bohring, Axel; Kubisch, Christian; Vogt, Stefanie; Strobl-Wildemann, Gertrud; Greally, Marie; Bartsch, Oliver und Steinberger, Daniela
(18. März 2013):
Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: implications for molecular genetic diagnostics.
In: BMJ Open, Bd. 3, Nr. 3, e001917
[PDF, 946kB]