Publicaciones en colaboración con investigadoras/es de Radboud University Nijmegen Medical Centre (9)

2024

  1. Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants

    Scientific Reports, Vol. 14, Núm. 1

2023

  1. Clinical and genetic characteristics of Dent's disease type 1 in Europe

    Nephrology Dialysis Transplantation, Vol. 38, Núm. 6, pp. 1497-1507

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

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

2022

  1. Current clinical practice for thromboprophylaxis management in patients with Cushing’s syndrome across reference centers of the European Reference Network on Rare Endocrine Conditions (Endo-ERN)

    Orphanet Journal of Rare Diseases, Vol. 17, Núm. 1

2021

  1. Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications (Scientific Reports, (2021), 11, 1, (1526), 10.1038/s41598-021-81093-y)

    Scientific Reports

  2. Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

    Scientific Reports, Vol. 11, Núm. 1

2018

  1. DNA methylation in childhood asthma: an epigenome-wide meta-analysis

    The Lancet Respiratory Medicine, Vol. 6, Núm. 5, pp. 379-388

2011

  1. Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease

    Nature Genetics, Vol. 43, Núm. 12, pp. 1193-1201

1995

  1. Factors influencing the immediate and late outcome of Cushing's disease treated by transsphenoidal surgery: A retrospective study by the European Cushing's Disease Survey Group

    Journal of Clinical Endocrinology and Metabolism, Vol. 80, Núm. 11, pp. 3114-3120