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

2022

  1. Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals

    Frontiers in Genetics, Vol. 13

2017

  1. Pitfalls of trio-based exome sequencing: Imprinted genes and parental mosaicism - MAGEL2 as an example

    Genetics in Medicine