Menkes Disease with Discordant Phenotype in Female Monozygotic Twins

Por Burgemeister, Anna Lena, Zirn, Birgit, Oeffner, Frank, Kaler, Stephen G., Lemm, Gunther, Rossier, Eva, Büttel, Hans-Martin
Publicado no Am J Med Genet A (2015)

Nosological delineation of congenital ocular motor apraxia type Cogan: an observational study

Por Wente, Sarah, Schröder, Simone, Buckard, Johannes, Büttel, Hans-Martin, von Deimling, Florian, Diener, Wilfried, Häussler, Martin, Hübschle, Susanne, Kinder, Silvia, Kurlemann, Gerhard, Kretzschmar, Christoph, Lingen, Michael, Maroske, Wiebke, Mundt, Dirk, Sánchez-Albisua, Iciar, Seeger, Jürgen, Toelle, Sandra P., Boltshauser, Eugen, Brockmann, Knut
Publicado no Orphanet J Rare Dis (2016)

Structural brain anomalies in patients with FOXG1 syndrome and in Foxg1+/− mice

Por Pringsheim, Milka, Mitter, Diana, Schröder, Simone, Warthemann, Rita, Plümacher, Kim, Kluger, Gerhard, Baethmann, Martina, Bast, Thomas, Braun, Sarah, Büttel, Hans‐Martin, Conover, Elizabeth, Courage, Carolina, Datta, Alexandre N., Eger, Angelika, Grebe, Theresa A., Hasse‐Wittmer, Annette, Heruth, Marion, Höft, Karen, Kaindl, Angela M., Karch, Stephanie, Kautzky, Torsten, Korenke, Georg C., Kruse, Bernd, Lutz, Richard E., Omran, Heymut, Patzer, Steffi, Philippi, Heike, Ramsey, Keri, Rating, Tina, Rieß, Angelika, Schimmel, Mareike, Westman, Rachel, Zech, Frank‐Martin, Zirn, Birgit, Ulmke, Pauline A., Sokpor, Godwin, Tuoc, Tran, Leha, Andreas, Staudt, Martin, Brockmann, Knut
Publicado no Ann Clin Transl Neurol (2019)