Publicaciones en colaboración con investigadores/as de Pierre and Marie Curie University (3)

2022

  1. PIGN encephalopathy: Characterizing the epileptology

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

2016

  1. Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing

    Orphanet Journal of Rare Diseases, Vol. 11, Núm. 1

2015

  1. Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

    American Journal of Medical Genetics, Part A, Vol. 167, Núm. 2, pp. 296-312