University of Pavia-ko ikertzaileekin lankidetzan egindako argitalpenak (4)

2020

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

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

2007

  1. CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders

    American Journal of Human Genetics, Vol. 81, Núm. 1, pp. 104-113