Publicaciones en colaboración con investigadores/as de Hospital Universitario de Donostia (2)

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

2016

  1. Clinical and molecular characteristics of homozygous familial hypercholesterolemia patients: Insights from SAFEHEART registry

    Journal of Clinical Lipidology, Vol. 10, Núm. 4, pp. 953-961