Publikationen in Zusammenarbeit mit Forschern von Boston Children's Hospital (2)

2022

  1. PIGN encephalopathy: Characterizing the epileptology

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

2018

  1. Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features

    American Journal of Human Genetics, Vol. 103, Núm. 5, pp. 786-793