Publicaciones en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (3)

2021

  1. Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

    Nature Communications, Vol. 12, Núm. 1

2019

  1. New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein-Taybi syndrome in 39 CREBBP-positive patients

    Molecular Genetics and Genomic Medicine, Vol. 7, Núm. 11

2008

  1. Our experience in the diagnosis of peroxisomal diseases with an abnormal fatty acid profile

    Revista de Neurologia, Vol. 47, Núm. 1, pp. 1-5