Publikationen in Zusammenarbeit mit Forschern von Complejo Hospitalario de Toledo (3)

2022

  1. Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals

    Frontiers in Genetics, Vol. 13

2018

  1. What to consider when pseudohypoparathyroidism is ruled out: IPPSD and differential diagnosis

    BMC Medical Genetics, Vol. 19, Núm. 1

2016

  1. Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by EP300 mutations

    American Journal of Medical Genetics, Part A, Vol. 170, Núm. 12, pp. 3069-3082