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
Focused panel sequencing points to genetic predisposition in non-cirrhotic intrahepatic portal hypertension patients in India.
Aaron R et al.
Indian Journal of Gastroenterology : Official Journal of the Indian Society of Gastroenterology, 2024
Clinical relevance of genetic variants in the von Willebrand factor according to in-silico methods.
Woods AI et al.
American Journal of Medical Genetics. Part A, 2024
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
Clinical application of multigene panel testing for bleeding, thrombotic, and platelet disorders: a 3-year Belgian experience.
Van Laer C et al.
Journal of Thrombosis and Haemostasis : Jth, 2023
Molecular classification of blood and bleeding disorder genes.
Baz B et al.
Npj Genomic Medicine, 2021
34272389 (PubMed )
Supplement: 41525_2021_228_MOESM1_ESM.pdf
Role of ADAMTS13, VWF and F8 genes in deep vein thrombosis.
Pagliari MT et al.
Plos One, 2021
34662354 (PubMed )
Supplement: pone.0258675.s002.pdf
Characterization of VWF gene conversions causing von Willebrand disease.
Ahmad F et al.
British Journal of Haematology, 2019
Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES): comprehensive genetic analysis by next-generation sequencing of 480 patients.
Borràs N et al.
Haematologica, 2017
28971901 (PubMed )
Supplement: 2017.168765.BORRAS_SUPPL.pdf
Novel insights into the clinical phenotype and pathophysiology underlying low VWF levels.
Lavin M et al.
Blood, 2017
Genetic counseling in direct-to-consumer exome sequencing: a case report.
van den Berg S et al.
Journal of Genetic Counseling, 2014
Characterisation of mutations and molecular studies of type 2 von Willebrand disease.
Ahmad F et al.
Thrombosis and Haemostasis, 2013
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