Publicaciones en colaboración con investigadores/as de Universidad Francisco de Vitoria (2)

2021

  1. Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood

    Scientific Reports, Vol. 11, Núm. 1

2020

  1. Evaluating face2gene as a tool to identify cornelia de lange syndrome by facial phenotypes

    International Journal of Molecular Sciences, Vol. 21, Núm. 3