Associated Papers
Integrating Next-Generation Sequencing Into Routine Molecular Diagnosis of Inherited Coagulation Factor Deficiencies: Real-World Data From Spanish Patients.
Borràs N et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2025
Real-World Evidence on Joint Condition in Non-Severe Hemophilia A Patients: A Multicenter Study.
Marco-Rico A et al.
Journal of Blood Medicine, 2025
Nationwide, Couple-Based Genetic Carrier Screening.
Kirk EP et al.
The New England Journal of Medicine, 2024
Rare within Rare: A Girl with Severe Haemophilia A and Turner Syndrome.
Blag C et al.
Journal of Clinical Medicine, 2023
Coagulation assay discrepancies in Japanese patients with non-severe hemophilia A.
Inaba H et al.
International Journal of Hematology, 2022
Type 2N VWD: Conclusions from the Spanish PCM-EVW-ES project.
Pérez-Rodríguez A et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2021
Genetic analysis of non-severe hemophilia A phenotype with A discrepancy between one-stage and chromogenic factor VIII activity assays.
Valikhani A et al.
Transfusion and Apheresis Science : Official Journal of the World Apheresis Association : Official Journal of the European Society for Haemapheresis, 2021
In silico and in vitro evaluation of the impact of mutations in non-severe haemophilia A patients on assay discrepancies.
Pezeshkpoor B et al.
Annals of Hematology, 2019
Compensated pathogenic variants in coagulation factors VIII and IX present complex mapping between molecular impact and hemophilia severity.
Marín Ò et al.
Scientific Reports, 2019
High proportion of patients with bleeding of unknown cause in persons with a mild-to-moderate bleeding tendency: Results from the Vienna Bleeding Biobank (VIBB).
Gebhart J et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2018
Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES): Proposal for a new diagnostic paradigm.
Batlle J et al.
Thrombosis and Haemostasis, 2016
The natural history of mild haemophilia: a 30-year single centre experience.
Tagliaferri A et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2012
Investigation of inflicted injury in a young girl reveals mild haemophilia A and Turner's syndrome.
Williams VK et al.
International Journal of Laboratory Hematology, 2012
p.Tyr365Cys change in factor VIII: haemophilia A, but not as we know it.
Bowyer AE et al.
British Journal of Haematology, 2011