Publications - '9'

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Titre DOI
9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping
S. Nambot; A. Masurel; S.El Chehadeh; A.L. Mosca-Boidron; C. Thauvin-Robinet; M. Lefebvre; N. Marle; J. Thevenon; S. Perez-Martin; V. Dulieu; F. Huet; G. Plessis; J. Andrieux; P.S. Jouk; G. Billy-Lopez; C. Coutton; F. Morice-Picard; M.A. Delrue; D. Heron; C. Rooryck; A. Goldenberg; P. Saugier-Veber; G. Joly-Helas; P. Calenda; P. Kuentz; S. Manouvrier-Hanu; S. Dupuis-Girod; P. Callier; L. Faivre
2016 		10.1038/ejhg.2015.202