Repositorio Institucional de Documentos

@article{Teresa-Rodrigo:48096,
      author        = "Teresa-Rodrigo, M. and Eckhold, J. and Puisac, B. and
                       Pozojevic, J. and Parenti, I. and Baquero-Montoya, C. and
                       Gil-Rodríguez, M.C. and Braunholz, D. and Dalski, A. and
                       Hernández-Marcos, M. and Ayerza, A. and Bernal, M.L. and
                       Ramos, F.J. and Wieczorek, D. and Gillessen-Kaesbach, G.
                       and Pié, J. and Kaiser, F.J.",
      title         = "{Identification and Functional Characterization of Two
                       Intronic NIPBL Mutations in Two Patients with Cornelia de
                       Lange Syndrome}",
      year          = "2016",
}