Publikationen in Zusammenarbeit mit Forschern von Instituto de Salud Carlos III (3)

2022

  1. Prevalencia y distribución geográfica del síndrome de Wolf-Hirschhorn en España

    Revista espanola de salud publica, Vol. 96

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

    Frontiers in Genetics, Vol. 13

2021

  1. Deep Phenotyping and Genetic Characterization of a Cohort of 70 Individuals With 5p Minus Syndrome

    Frontiers in Genetics, Vol. 12