论文信息 - Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients - 字舞流文

Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients

N. Drouot | A. Boland | D. Lacombe | O. Quenez | K. Cassinari | S. Coutant | F. Lecoquierre | M. Vezain | J. Deleuze | R. Olaso | C. Derambure | A. Goldenberg | G. Nicolas | P. Saugier-Veber | B. Doray | T. Smol | E. Schaefer | L. Lambert | M. Legendre | J. Ghoumid | Gabriella Vera | Juliette Coursimault | Mélanie Rama | Anais Philippe | Patricia Fergelot Maurin | J. Coursimault