Publicaciones en colaboración con investigadoras/es de Fred Hutchinson Cancer Research Center (1)

2016

  1. Double SMCHD1 variants in FSHD2: The synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2

    European Journal of Human Genetics, Vol. 24, Núm. 1, pp. 78-85