Hospital San Pedro-ko ikertzaileekin lankidetzan egindako argitalpenak (5)

2022

  1. Phenotypic comparison of patients affected with DeSanto-Shinawi syndrome: Point mutations in WAC gene versus a 10p12.1 microdeletion including WAC

    Molecular Genetics and Genomic Medicine, Vol. 10, Núm. 5

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

2014

  1. Gorlin syndrome in the paediatric age

    Revista de Neurologia, Vol. 58, Núm. 7, pp. 303-307