@article{Teresa-Rodrigo:57816,
author = "Teresa-Rodrigo, M. and Eckhold, J. and Puisac Uriol,
Beatriz and Dalski, A. and Gil Rodríguez, María
Concepción and Braunholz, D. and Baquero, C. and
Hernández Marcos, María and Karam Francisco, Juan Carlos
De and Ciero Pavon, Milagros and Santos-Simarro, F. and
Lapunzina, P. and Wierzba, J. and Casale, C. H. and Ramos
Fuentes, Feliciano Jesús and Gillessen-Kaesbach, G. and
Kaiser, F. J. and Pié Juste, Juan",
title = "{Functional characterization of NIPBL physiological splice
variants and eight splicing mutations in patients with
cornelia de lange syndrome}",
year = "2014",
}