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

Authors: Jamra, Rami Abou Philippe, Orianne Raas-Rothschild, Annick Eck, Sebastian H.

Citation: Jamra, Rami Abou et al., Adaptor Protein Complex 4 Deficiency Causes Severe Autosomal-Recessive Intellectual Disability, Progressive Spastic Paraplegia, Shy Character, and Short Stature, American journal of human genetics (Online) AJHG , 88(6), 2011, pp. 788-795