Identification and Functional Characterization of Two Intronic NIPBL Mutations in Two Patients with Cornelia de Lange Syndrome
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D. Wieczorek | B. Puisac | M. Teresa-Rodrigo | M. Gil-Rodríguez | J. Pié | F. Ramos | D. Braunholz | A. Dalski | Juliane Eckhold | G. Gillessen‐kaesbach | F. Kaiser | J. Pozojevic | I. Parenti | A. Ayerza | M. Hernández-Marcos | C. Baquero-Montoya | M. Bernal | G. Gillessen‐Kaesbach | C. Baquero‐Montoya