Publicacions en col·laboració amb investigadors/es de Medical University of Vienna (3)

2022

  1. Disease Progression of WHIM Syndrome in an International Cohort of 66 Pediatric and Adult Patients

    Journal of Clinical Immunology, Vol. 42, Núm. 8, pp. 1748-1765

2020

  1. Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations

    Journal of Allergy and Clinical Immunology, Vol. 146, Núm. 4, pp. 901-911

  2. High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers

    Journal of Medical Genetics, Vol. 57, Núm. 4, pp. 269-273