M. Bernal

Special cases in Cornelia de Lange syndrome: The Spanish experience

B. Puisac, M. Teresa-Rodrigo, M. Gil-Rodríguez, 2016, American journal of medical genetics. Part C, Seminars in medical genetics.

Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation.

L. Armengol, B. Puisac, M. Teresa-Rodrigo, 2014, European journal of medical genetics.

Lethal faciocardiomelic dysplasia- a new autosomal recessive disorder.

J. Cantú, A. Hernández, J. Urrusti, 1975, Birth defects original article series.

Identification and Functional Characterization of Two Intronic NIPBL Mutations in Two Patients with Cornelia de Lange Syndrome

D. Wieczorek, B. Puisac, M. Teresa-Rodrigo, 2016, BioMed research international.