Alberto García Oguiza-rekin lankidetzan egindako argitalpenak (3)

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

2015

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

    Human Genome Variation, Vol. 2, Núm. 1