Authors: Brancati, Francesco Barrano, Giuseppe Silhavy, Jennifer L. Marsh, Sarah E. Travaglini, Lorena Bielas, Stephanie L. Amorini, Maria Zablocka, Dominika Kayserili, Hulya Al-Gazali, Lihadh Bertini, Enrico Boltshauser, Eugen D'Hooghe, Marc Fazzi, Elisa Fenerci, Elif Y. Hennekam, Raoul C.M. Kiss, Andrea Lees, Melissa M. Marco, Elysa Phadke, Shubha R. Gleeson, Joseph G

Citation: Brancati, Francesco et al., CEP290 Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome.Related Disorders, American journal of human genetics , 81(1), 2007, pp. 104-113

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