Publicaciones en colaboración con investigadoras/es de Universitat Pompeu Fabra (2)

2022

  1. Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

    Genetics in Medicine, Vol. 24, Núm. 11, pp. 2351-2366

2016

  1. Clinical and molecular analyses of Beckwith–Wiedemann syndrome: Comparison between spontaneous conception and assisted reproduction techniques

    American Journal of Medical Genetics, Part A, Vol. 170, Núm. 10, pp. 2740-2749