Publicaciones en colaboración con investigadoras/es de Universitat Autònoma de Barcelona (7)

2023

  1. Autosomal dominant polycystic kidney disease in young adults

    Clinical Kidney Journal, Vol. 16, Núm. 6, pp. 985-995

  2. Treatment and long-term outcome in primary nephrogenic diabetes insipidus

    Nephrology Dialysis Transplantation, Vol. 38, Núm. 10, pp. 2120-2130

2022

  1. Clinical and genetic characterization of a cohort of proteinuric patients with biallelic CUBN variants

    Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association, Vol. 37, Núm. 10, pp. 1906-1915

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

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

2020

  1. Novel compound heterozygous mutations of CLDN16 in a patient with familial hypomagnesemia with hypercalciuria and nephrocalcinosis

    Molecular Genetics and Genomic Medicine, Vol. 8, Núm. 11

2015

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

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