Publikationen in Zusammenarbeit mit Forschern von University of Lausanne (3)

2022

  1. PIGN encephalopathy: Characterizing the epileptology

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

2020

  1. Primrose syndrome: Characterization of the phenotype in 42 patients

    Clinical Genetics, Vol. 97, Núm. 6, pp. 890-901

2013

  1. MLL2 mutation detection in 86 patients with Kabuki syndrome: A genotype-phenotype study

    Clinical Genetics, Vol. 84, Núm. 6, pp. 539-545