Publicaciones en colaboración con investigadores/as de Centro de Investigacion Biomedica en Red de Diabetes y Enfermedades Metabolicas Asociadas (6)

2024

  1. Dilated Cardiomyopathy With Concomitant Salt-Losing Renal Tubulopathy Caused by Heterozygous RRAGD Gene Variant

    Circulation: Genomic and Precision Medicine, Vol. 17, Núm. 2, pp. E004336

2023

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

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

2021

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

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

2019

  1. Variable phenotype in HNF1B mutations: Extrarenal manifestations distinguish affected individuals from the population with congenital anomalies of the kidney and urinary tract

    Clinical Kidney Journal, Vol. 12, Núm. 3, pp. 373-379

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