Publicaciones en colaboración con investigadores/as de Assistance Publique -Hopitaux De Paris (2)

2018

  1. The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants [version 1; referees: 3 approved]

    Wellcome Open Research, Vol. 3

2016

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

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