Publicacions en col·laboració amb investigadors/es de Hospital Clinic Barcelona (5)

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

2016

  1. A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosis

    Mitochondrion, Vol. 26, pp. 72-80

2009

  1. A preliminary study of the frequency of anti-basal ganglia antibodies and streptococcal infection in attention deficit/hyperactivity disorder

    Journal of Neurology, Vol. 256, Núm. 7, pp. 1103-1108

1982

  1. Letters to the editor

    Muscle & Nerve