Publicaciones en colaboración con investigadores/as de Hospital Clinic Barcelona (3)

2023

  1. Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: Addition of 67 new patients

    Journal of Medical Genetics, Vol. 60, Núm. 7, pp. 644-654

2022

  1. Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals

    Frontiers in Genetics, Vol. 13

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