Publicaciones en colaboración con investigadores/as de Centre National de la Recherche Scientifique (2)

2022

  1. FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects

    Genetics in Medicine, Vol. 24, Núm. 12, pp. 2475-2486

2010

  1. Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome

    Human Mutation, Vol. 31, Núm. 2, pp. 113-126