Publicaciones en colaboración con investigadoras/es de Hospital Duran i Reynals (3)

2015

  1. Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci

    Clinical Epigenetics, Vol. 7, Núm. 1

2011

  1. Constitutional mosaic genome-wide uniparental disomy due to diploidisation: An unusual cancer-predisposing mechanism

    Journal of Medical Genetics, Vol. 48, Núm. 3, pp. 212-216

2008

  1. N-terminal CFTR missense variants severely affect the behavior of the CFTR chloride channel

    Human Mutation, Vol. 29, Núm. 5, pp. 738-749