Elena Domínguez Garrido-rekin lankidetzan egindako argitalpenak (7)

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

2018

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

    BMC Medical Genetics, Vol. 19, Núm. 1

2016

  1. A novel mutation in the CDH1 gene in a Spanish family with hereditary diffuse gastric cancer

    SpringerPlus, Vol. 5, Núm. 1

  2. Digital droplet PCR on disk

    Lab on a Chip, Vol. 16, Núm. 1, pp. 208-216

  3. First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant

    BMC Medical Genetics, Vol. 17, Núm. 1

2015

  1. A novel SLC6A8 mutation associated with motor dysfunction in a child exhibiting creatine transporter deficiency

    Human Genome Variation, Vol. 2, Núm. 1