Publicaciones en colaboración con investigadoras/es de Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (5)

2023

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

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

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

2017

  1. Development and Initial Validation of the Macrophage Activation Syndrome/Primary Hemophagocytic Lymphohistiocytosis Score, a Diagnostic Tool that Differentiates Primary Hemophagocytic Lymphohistiocytosis from Macrophage Activation Syndrome

    Journal of Pediatrics, Vol. 189, pp. 72-78.e3

2014

  1. Performance of current guidelines for diagnosis of macrophage activation syndrome complicating systemic juvenile idiopathic arthritis

    Arthritis and Rheumatology, Vol. 66, Núm. 10, pp. 2871-2880

2010

  1. Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies

    Human Mutation, Vol. 31, Núm. 5