Publicaciones en colaboración con investigadoras/es de University of Rome Tor Vergata (4)

2013

  1. Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders

    European Journal of Human Genetics, Vol. 21, Núm. 10, pp. 1074-1078

1992

  1. Expansion of the myotonic dystrophy gene in Italian and Spanish patients

    Journal of Medical Genetics, Vol. 29, Núm. 11, pp. 789-790