Publicaciones en colaboración con investigadoras/es de French Institute of Health and Medical Research (2)

2010

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

    Human Mutation, Vol. 31, Núm. 5

2006

  1. Brain MRI abnormalities in muscular dystrophy due to FKRP mutations

    Brain and Development, Vol. 28, Núm. 4, pp. 232-242