Publicaciones en colaboración con investigadores/as de Hospital Universitario Son Espases (7)

2023

  1. OPA1 Dominant Optic Atrophy: Diagnostic Approach in the Pediatric Population

    Current Issues in Molecular Biology, Vol. 45, Núm. 1, pp. 465-478

2022

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

    Frontiers in Genetics, Vol. 13

2021

  1. Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications (Scientific Reports, (2021), 11, 1, (1526), 10.1038/s41598-021-81093-y)

    Scientific Reports

  2. Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

    Scientific Reports, Vol. 11, Núm. 1

2019

  1. Prorepair-B: A prospective cohort study of the impact of germline DNA repair mutations on the outcomes of patients with metastatic castration-resistant prostate cancer

    Journal of Clinical Oncology, Vol. 37, Núm. 6, pp. 490-503

2015

  1. Analysis of invdupdel(8p) rearrangement: Clinical, cytogenetic and molecular characterization

    American Journal of Medical Genetics, Part A, Vol. 167, Núm. 5, pp. 1018-1025

2011

  1. Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia

    European Journal of Human Genetics, Vol. 19, Núm. 12, pp. 1218-1225