论文信息 - Functional Characterization of NIPBL Physiological Splice Variants and Eight Splicing Mutations in Patients with Cornelia de Lange Syndrome - 字舞流文

Functional Characterization of NIPBL Physiological Splice Variants and Eight Splicing Mutations in Patients with Cornelia de Lange Syndrome

P. Lapunzina | F. Santos-Simarro | B. Puisac | M. Teresa-Rodrigo | M. Gil-Rodríguez | J. Pié | C. Casale | F. Ramos | D. Braunholz | A. Dalski | Juliane Eckhold | G. Gillessen‐kaesbach | J. Wierzba | F. Kaiser | C. Baquero | M. Hernández-Marcos | Milagros Ciero | J. C. de Karam