Publications in collaboration with researchers from Instituto de Salud Carlos III (2)

2020

  1. Molecular characterization of Spanish patients with MECP2 duplication syndrome

    Clinical Genetics, Vol. 97, Núm. 4, pp. 610-620

2010

  1. BRCA1 5272-1G>A and BRCA2 5374delTATG are founder mutations of high relevance for genetic counselling in breast/ovarian cancer families of Spanish origin

    Clinical Genetics, Vol. 77, Núm. 1, pp. 60-69