@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",
}