Authors: Uhlenberg, Birgit Schuelke, Markus Rüschendorf, Franz Ruf, Nico Kaindl, Angela M. Henneke, Marco Thiele, Holger Stoltenburg-Didinger, Gisela Aksu, Fuat Topalo.lu, Haluk Nürnberg, Peter Hübner, Christoph Weschke, Bernhard Gärtner, Jutta

Citation: Uhlenberg, Birgit et al., Mutations in the Gene Encoding Gap Junction Protein .12 (Connexin 46.6) Cause Pelizaeus-Merzbacher.Like Disease, American journal of human genetics , 75(2), 2004, pp. 251-260

Authors: Hoffman, Katrin Müller, Juliane S. Stricker, Sigmar Megarbane, Andre Rajab, Anna Lindner, Tom H. Cohen, Monika Chouery, Eliane Adaimy, Lynn Ghanem, Ismat Delague, Valerie Boltshauser, Eugen Talim, Beril Horvath, Rita Robinson, Peter N. Lochmüller, Hanns Hübner, Christoph Mundlos, Stefan

Citation: Hoffman, Katrin et al., Escobar Syndrome Is a Prenatal Myasthenia Caused by Disruption of the Acetylcholine Receptor Fetal . Subunit, American journal of human genetics , 79(2), 2006, pp. 303-312