Authors: Bartels, Cynthia F. Bükülmez, Hülya Padayatti, Pius Rhee, David K. Ravenswaaij-Arts, Conny, Van Pauli, Richard M. Mundlos, Stefan Chiatayat, David Shih, Ling-Yu Al-Gazali, Lihadh I. Kant, Sarina Cole, Trevor Morton, Jenny Cormier-Daire, Valérie Faivre, Laurence Lees, Melissa Kirk, Jeremy Mortier, Geert R. Leory, Jules Zabel, Bernhard Kim, Chong Ae Crow, Yanick Braveman, Nancy E. Akker, Focco, Van : der Warman, Matthew L.

Citation: F. Bartels, Cynthia et al., Mutations in the Transmembrane Natriuretic Peptide Receptor NPR-B Impair Skeletal Growth and Cause Acromesomelic Dysplasia, Type Maroteaux, American journal of human genetics , 75(1), 2004, pp. 27-34

Authors: Klopocki, Eva Lohan, Silke Brancati, Francesco Koll, Randi Mundlos, Stefan

Citation: Klopocki, Eva et al., Copy-Number Variations Involving the IHH Locus Are Associated with Syndactyly and Craniosynostosis, American journal of human genetics (Online) AJHG , 88(1), 2011, pp. 70-75

Authors: Klopocki, Eva Schulze, Harald Strauß, Gabriele Ott, Claus-Eric Hall, Judith Trotier, Fabienne Fleischhauer, Silke Greenhalgh, Lynn Newbury-Ecob, Ruth A. Neumann, Luitgard M. Habenicht, Rolf König, Rainer Seemanova, Eva Megarbane, André Ropers, Hans-Hilger Ullmann, Reinhard Horn, Denise Mundlos, Stefan

Citation: Klopocki, Eva et al., Complex Inheritance Pattern Resembling Autosomal Recessive Inheritance Involving a Microdeletion in Thrombocytopenia.Absent Radius Syndrome, American journal of human genetics , 80(2), 2007, pp. 232-240

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