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