Publicaciones en colaboración con investigadores/as de Universidad del País Vasco/Euskal Herriko Unibertsitatea (9)

2023

  1. Genotypic variability in patients with clinical diagnosis of Bartter syndrome type 3

    Scientific reports, Vol. 13, Núm. 1, pp. 12587

  2. Hypercalcemia in patients with mutations in NR3C2 and SCNN1B

    Medicina Clinica

2021

  1. Correction to: Phenotypic characterization of X-linked hypophosphatemia in pediatric Spanish population (Orphanet Journal of Rare Diseases, (2021), 16, 1, (104), 10.1186/s13023-021-01729-0)

    Orphanet Journal of Rare Diseases

  2. Hereditary distal renal tubular acidosis: Genotypic correlation, evolution to long term, and new therapeutic perspectives

    Nefrologia, Vol. 41, Núm. 4, pp. 383-390

  3. Molecular aspects and long-term outcome of patients with primary distal renal tubular acidosis

    Pediatric Nephrology, Vol. 36, Núm. 10, pp. 3133-3142

  4. Phenotypic characterization of X-linked hypophosphatemia in pediatric Spanish population

    Orphanet Journal of Rare Diseases, Vol. 16, Núm. 1

2017

  1. Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome

    PLoS ONE, Vol. 12, Núm. 3

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. Genetics of Type III Bartter Syndrome in Spain, Proposed Diagnostic Algorithm

    PLoS ONE, Vol. 8, Núm. 9