Publicaciones en colaboración con investigadores/as de Boston Children's Hospital (5)

2020

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

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

2018

  1. Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome

    Journal of Clinical Investigation, Vol. 128, Núm. 10, pp. 4313-4328