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: Tukel, Turgut .o.i., Dra.en Al-Gazali, Lihadh I. Erazo, Mónica Desnick, Robert J.

Citation: Tukel, Turgut et al., Homozygous Nonsense Mutations in TWIST2 Cause Setleis Syndrome, American journal of human genetics (Online) AJHG , 87(2), 2010, pp. 289-296

Authors: Dagoneau, Nathalie Scheffer, Deborah Huber, Céline Al-Gazali, Lihadh I. Di Rocco, Maja Godard, Anne Martinovic, Jelena Raas-Rothschild, Annick Sigaudy, Sabine Unger, Sheila Nicole, Sophie Fontaine, Bertrand Taupin, Jean-Luc Moreau, Jean-François Superti-Fuga, Andrea Le Merrer, Martine Bonaventure, Jacky Munnich, Arnold Legeai-Mallet, Laurence Cormier-Daire, Valérie

Citation: Dagoneau, Nathalie et al., Null Leukemia Inhibitory Factor Receptor (LIFR) Mutations in Stüve-Wiedemann/Schwartz-Jampel Type 2 Syndrome, American journal of human genetics , 74(2), 2004, pp. 298-305