María del Socorro Pérez Poyato-rekin lankidetzan egindako argitalpenak (3)

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

2010

  1. Clinical experience with miglustat therapy in pediatric patients with Niemann-Pick disease type C: A case series

    Molecular Genetics and Metabolism, Vol. 99, Núm. 4, pp. 358-366