Publicaciones en colaboración con investigadores/as de Maastricht University Medical Centre (2)

2022

  1. PIGN encephalopathy: Characterizing the epileptology

    Epilepsia, Vol. 63, Núm. 4, pp. 974-991

2016

  1. Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by EP300 mutations

    American Journal of Medical Genetics, Part A, Vol. 170, Núm. 12, pp. 3069-3082