Publicaciones en colaboración con investigadores/as de University of Glasgow (3)

2020

  1. Genetic and phenotypic spectrum associated with IFIH1 gain-of-function

    Human Mutation, Vol. 41, Núm. 4, pp. 837-849

2001

  1. Frequency and stability of the myotonic dystrophy type 1 premutation

    Neurology, Vol. 56, Núm. 3, pp. 328-335

1998

  1. Progression of somatic CTG repeat length heterogeneity in the blood cells of myotonic dystrophy patients

    Human Molecular Genetics, Vol. 7, Núm. 2, pp. 307-312