Publicacións en colaboración con investigadores/as de Hospital Infanta Cristina (2)

2021

  1. Schuurs-Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review

    Genes, Vol. 12, Núm. 5

2019

  1. The effect of copy number variations in chromosome 16p on body weight in patients with intellectual disability

    Journal of Human Genetics, Vol. 64, Núm. 3, pp. 221-231