Publicaciones en colaboración con investigadores/as de Maastricht University Medical Centre (22)

2019

  1. Clinical and genetic characteristics of late-onset Huntington's disease

    Parkinsonism and Related Disorders, Vol. 61, pp. 101-105

2016

  1. Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by EP300 mutations

    American Journal of Medical Genetics, Part A, Vol. 170, Núm. 12, pp. 3069-3082

2015

  1. Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer

    JAMA - Journal of the American Medical Association, Vol. 313, Núm. 13, pp. 1347-1361

2011

  1. Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers

    Journal of the National Cancer Institute, Vol. 103, Núm. 2, pp. 105-116