Helena Gil Peña-rekin lankidetzan egindako argitalpenak (6)

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

2019

  1. Risk of cardiovascular involvement in pediatric patients with X-linked hypophosphatemia

    Pediatric Nephrology, Vol. 34, Núm. 6, pp. 1077-1086

2017

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

    PLoS ONE, Vol. 12, Núm. 3

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

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

    PLoS ONE, Vol. 8, Núm. 9