@article{TeresaRodrigo:48096,
author = "Teresa Rodrigo, María Esperanza and Eckhold, J. and
Puisac Uriol, Beatriz and Pozojevic, J. and Parenti, I. and
Baquero-Montoya, C. and Gil Rodríguez, María Concepción
and Braunholz, D. and Dalski, A. and Hernández Marcos,
María and Ayerza Casas, Ariadna and Bernal Ruiz, María
Luisa and Ramos Fuentes, Feliciano Jesús and Wieczorek, D.
and Gillessen-Kaesbach, G. and Pié Juste, Juan and Kaiser,
F. J.",
title = "{Identification and Functional Characterization of Two
Intronic NIPBL Mutations in Two Patients with Cornelia de
Lange Syndrome}",
year = "2016",
}