Publicaciones en colaboración con investigadoras/es de University of Pavia (5)

2022

  1. Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: Results of a multicentric study

    Journal of Medical Genetics, Vol. 59, Núm. 4, pp. 399-409

2020

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

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

2009

  1. MKS3/TMEM67 mutations are a major cause of COACH syndrome, a joubert syndrome related disorder with liver involvement

    Human Mutation, Vol. 30, Núm. 2, pp. E432-E442

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

2003

  1. MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness

    Medicine, Vol. 82, Núm. 3, pp. 203-215