Publicacións en colaboración con investigadores/as de Radboud University Nijmegen Medical Centre (122)

2023

  1. Are children with prolonged fever at a higher risk for serious illness? A prospective observational study

    Archives of Disease in Childhood, Vol. 108, Núm. 8, pp. 632-639

  2. Beyond genetics: Deciphering the impact of missense variants in CAD deficiency

    Journal of Inherited Metabolic Disease, Vol. 46, Núm. 6, pp. 1170-1185

  3. Diagnosis of childhood febrile illness using a multi-class blood RNA molecular signature

    Med, Vol. 4, Núm. 9, pp. 635-654.e5

  4. Emergency medical services utilisation among febrile children attending emergency departments across Europe: an observational multicentre study

    European Journal of Pediatrics, Vol. 182, Núm. 9, pp. 3939-3947

  5. Erratum: Correction to: Febrile illness in high-risk children: a prospective, international observational study (European journal of pediatrics (2023) 182 2 (543-554))

    European journal of pediatrics

  6. Febrile illness in high-risk children: a prospective, international observational study

    European Journal of Pediatrics, Vol. 182, Núm. 2, pp. 543-554

  7. Genome-wide Association Study of Bladder Cancer Reveals New Biological and Translational Insights

    European Urology, Vol. 84, Núm. 1, pp. 127-137

  8. Genomic investigations of unexplained acute hepatitis in children

    Nature, Vol. 617, Núm. 7961, pp. 564-573

  9. Germline mutations in WNK2 could be associated with serrated polyposis syndrome

    Journal of Medical Genetics, Vol. 60, Núm. 6, pp. 557-567

  10. Impact of infection on proteome-wide glycosylation revealed by distinct signatures for bacterial and viral pathogens

    iScience, Vol. 26, Núm. 8

  11. Novel cerebrospinal fluid biomarkers of glucose transporter type 1 deficiency syndrome: Implications beyond the brain's energy deficit

    Journal of Inherited Metabolic Disease, Vol. 46, Núm. 1, pp. 66-75

  12. One-Third of European Patients With Axial Spondyloarthritis Reach Pain Remission With Routine Care Tumor Necrosis Factor Inhibitor Treatment

    Journal of Rheumatology, Vol. 50, Núm. 8, pp. 1009-1019

  13. Role of SHP2 (PTPN11) in glycoprotein VI-dependent thrombus formation: Improved platelet responsiveness by the allosteric drug SHP099 in Noonan syndrome patients

    Thrombosis Research, Vol. 228, pp. 105-116