Publicaciones en colaboración con investigadoras/es de Hospital Universitario 12 de Octubre (3)

2020

  1. Hypophosphataemic Rickets: Similar Phenotype of Different Diseases

    Advances in Therapy, Vol. 37, pp. 80-88

2015

  1. Novel mutations associated with nephrogenic diabetes insipidus. A clinical-genetic study

    European Journal of Pediatrics, Vol. 174, Núm. 10, pp. 1373-1385

2013

  1. Dent’s disease: Identification of seven new pathogenic mutations in the CLCN5 gene

    Journal of Pediatric Genetics, Vol. 2, Núm. 3, pp. 133-140