Publicacións nas que colabora con Virginia Perez Grijalba (2)

2020

  1. A 22.5 kb deletion in CUL4B causing Cabezas syndrome identified using CNV approach from WES data

    Clinical Case Reports, Vol. 8, Núm. 12, pp. 3184-3188

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