Publications en collaboration avec des chercheurs de Hospital General Universitario Gregorio Marañón (2)

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

2018

  1. Rubinstein-Taybi 2 associated to novel EP300 mutations: Deepening the clinical and genetic spectrum

    BMC Medical Genetics, Vol. 19, Núm. 1