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
40577417 (PubMed )
Supplement: HAE-31-734-s001.pdf
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L et al.
Blood, 2023
37647632 (PubMed )
Supplement: BLOOD_BLD-2023-020118-mmc3.xlsx › ST3.4
Population-based prevalence and mutational landscape of von Willebrand disease using large-scale genetic databases.
Seidizadeh O et al.
Npj Genomic Medicine, 2023
37845247 (PubMed )
Supplement: 41525_2023_375_MOESM1_ESM.pdf
The Current Understanding of Molecular Pathogenesis of Quantitative von Willebrand Disease, Types 1 and 3.
Yadegari H et al.
Hamostaseologie, 2020
Mutations in the D'D3 region of VWF traditionally associated with type 1 VWD lead to quantitative and qualitative deficiencies of VWF.
White-Adams TC et al.
Thrombosis Research, 2016
A Laboratory Phenotype/Genotype Correlation of 1167 French Patients From 670 Families With von Willebrand Disease: A New Epidemiologic Picture.
Veyradier A et al.
Medicine, 2016
Advances in the diagnosis and management of type 1 von Willebrand disease.
Castaman G et al.
Expert Review of Hematology, 2011
Genetic testing for von Willebrand disease: the case against.
Favaloro EJ
Journal of Thrombosis and Haemostasis : Jth, 2010
The mutational spectrum of type 1 von Willebrand disease: Results from a Canadian cohort study.
James PD et al.
Blood, 2007
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