Publications by the researcher in collaboration with Elena Marcos Vadillo (2)

2024

  1. PTEN hamartoma tumor syndrome: Clinical and genetic characterization in pediatric patients

    Child's Nervous System

2023

  1. Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant

    Journal of medical genetics, Vol. 60, Núm. 10, pp. 965-973