Publicaciones en colaboración con investigadores/as de Universidad Autónoma de Madrid (6)

2021

  1. Cohort profile: The Spanish Early-onset Colorectal Cancer (SECOC) cohort: A multicentre cohort study on the molecular basis of colorectal cancer among young individuals in Spain

    BMJ Open, Vol. 11, Núm. 12

2020

  1. Novel dominant kcnq2 exon 7 partial in-frame duplication in a complex epileptic and neurodevelopmental delay syndrome

    International Journal of Molecular Sciences, Vol. 21, Núm. 12, pp. 1-11

2014

  1. Early-onset acral basal cell carcinomas in Gorlin syndrome

    British Journal of Dermatology, Vol. 171, Núm. 5, pp. 1227-1229

2013

  1. Ectodermal dysplasia-skin fragility syndrome: A novel mutation in the PKP1 gene

    Clinical and Experimental Dermatology, Vol. 38, Núm. 7, pp. 787-790

2010

  1. X-linked ichthyosis along with recessive dystrophic epidermolysis bullosa in the same patient

    Dermatology, Vol. 221, Núm. 2, pp. 113-116

2003

  1. Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: A high proportion of mutations unique to Spain and evidence of founder effects

    Human Mutation, Vol. 22, Núm. 4, pp. 301-312