Publicacions en col·laboració amb investigadors/es de Università de Roma La Sapienza (4)

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

2010

  1. Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies

    Human Mutation, Vol. 31, Núm. 5

2008

  1. RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders

    Clinical Genetics, Vol. 74, Núm. 2, pp. 164-170

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