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