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
Targeted exome analysis in patients with rare bleeding disorders: data from the Rare Bleeding Disorders in the Netherlands study.
Willems SPE et al.
Research and Practice in Thrombosis and Haemostasis, 2024
39076726 (PubMed )
Supplement: mmc2.xlsx › Blad1
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
Genetic landscape in coagulation factor XIII associated defects - Advances in coagulation and beyond.
Javed H et al.
Blood Reviews, 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
Germline and Somatic Whole-Exome Sequencing Identifies New Candidate Genes Involved in Familial Predisposition to Serrated Polyposis Syndrome.
Soares de Lima Y et al.
Cancers, 2021
33672345 (PubMed )
Supplement: cancers-13-00929-s001.zip › Soares_de_Lima_et_al_Supplementary_material.pdf
Familial Multiple Coagulation Factor Deficiencies (FMCFDs) in a Large Cohort of Patients-A Single-Center Experience in Genetic Diagnosis.
Preisler B et al.
Journal of Clinical Medicine, 2021
Comparison of F13A1 gene mutations in 73 patients treated with recombinant FXIII-A2.
Ivaškevičius V et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2017
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