Publicaciones en colaboración con investigadores/as de Radboud University Nijmegen Medical Centre (194)

2024

  1. Clinical and Imaging Characteristics, Care Pathways, and Outcomes of Traumatic Epidural Hematomas: A Collaborative European NeuroTrauma Effectiveness Research in Traumatic Brain Injury Study

    Neurosurgery, Vol. 95, Núm. 5, pp. 986-999

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

    Scientific Reports, Vol. 14, Núm. 1

  3. Implementation of dosimetry for molecular radiotherapy; results from a European survey

    Physica Medica, Vol. 117

  4. Machine Learning-Based Prediction of Hemoglobinopathies Using Complete Blood Count Data

    Clinical Chemistry, Vol. 70, Núm. 8, pp. 1064-1075

  5. Minimal information for studies of extracellular vesicles (MISEV2023): From basic to advanced approaches

    Journal of Extracellular Vesicles, Vol. 13, Núm. 2

  6. Next-generation sequencing to genetically diagnose a diverse range of inherited eye disorders in 15 consanguineous families from Pakistan

    Experimental Eye Research, Vol. 244

  7. One-year employment outcome prediction after traumatic brain injury: A CENTER-TBI study

    Disability and Health Journal

  8. Patient-Reported Outcome Measures in Neuromuscular Diseases: A Scoping Review

    Journal of neuromuscular diseases, Vol. 11, Núm. 3, pp. 567-577

  9. Stratified analyses refine association between TLR7 rare variants and severe COVID-19

    Human Genetics and Genomics Advances, Vol. 5, Núm. 4

  10. The Operating Room management for emergency Surgical Activity (ORSA) study: a WSES international survey

    Updates in Surgery, Vol. 76, Núm. 2, pp. 687-698

  11. Whole genome sequencing identifies elusive variants in genetically unsolved Italian inherited retinal disease patients

    Human Genetics and Genomics Advances, Vol. 5, Núm. 3

2023

  1. 267th ENMC International workshop: psychological interventions for improving quality of life in slowly progressive neuromuscular disorders

    Neuromuscular Disorders

  2. A TGFβ-ECM-integrin signaling axis drives structural reconfiguration of the bile duct to promote polycystic liver disease

    Science translational medicine, Vol. 15, Núm. 713, pp. eabq5930

  3. A prognostic score to identify women at increased risk for abnormal uterine bleeding during anticoagulation for venous thromboembolism

    Thrombosis Update, Vol. 13

  4. ABCA4 c.6480-35A>G, a novel branchpoint variant associated with Stargardt disease

    Frontiers in Genetics, Vol. 14

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

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

  6. Combined Single Gene Testing and Genome Sequencing as an Effective Diagnostic Approach for Anophthalmia and Microphthalmia Patients

    Genes, Vol. 14, Núm. 8

  7. EFOMP policy statement NO. 19: Dosimetry in nuclear medicine therapy – Molecular radiotherapy

    Physica Medica, Vol. 116

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

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

  9. Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes

    The Lancet. Oncology, Vol. 24, Núm. 1, pp. 91-106