Publicaciones en colaboración con investigadoras/es de University of Groningen (11)

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. Medication use in uncontrolled pediatric asthma: Results from the SysPharmPediA study

    European Journal of Pharmaceutical Sciences, Vol. 181

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

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

2022

  1. Parathyroid hormone and phosphate homeostasis in patients with Bartter and Gitelman syndrome: an international cross-sectional study

    Nephrology Dialysis Transplantation, Vol. 37, Núm. 12, pp. 2474-2486

2020

  1. Neuroinflammatory Disease as an Isolated Manifestation of Hemophagocytic Lymphohistiocytosis

    Journal of Clinical Immunology, Vol. 40, Núm. 6, pp. 901-916

2015

  1. A multinational study to compare prevalence of atopic dermatitis in the first year of life

    Pediatric Allergy and Immunology, Vol. 26, Núm. 4, pp. 359-366

2014

  1. THEMIS and PTPRK in celiac intestinal mucosa: Coexpression in disease and after in vitro gliadin challenge

    European Journal of Human Genetics, Vol. 22, Núm. 3, pp. 358-362

2013

  1. Latitude modifies the effect size of factors related to recurrent wheeze in the first year of life

    Respiratory Medicine, Vol. 107, Núm. 5, pp. 665-672

  2. Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders

    European Journal of Human Genetics, Vol. 21, Núm. 10, pp. 1074-1078

2012

  1. Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry

    Nature Genetics

2002

  1. Novel ATP6V1B1 and ATP6V0a4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss

    Journal of Medical Genetics, Vol. 39, Núm. 11, pp. 796-803