Publikationen in Zusammenarbeit mit Forschern von Hospital General de Granollers (3)

2022

  1. Genetic diagnosis of basal ganglia disease in childhood

    Developmental Medicine and Child Neurology, Vol. 64, Núm. 6, pp. 743-752

2019

  1. X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients

    Scientific Reports, Vol. 9, Núm. 1

2017

  1. The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome

    Scientific Reports, Vol. 7, Núm. 1