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
Genetic Landscape of Factor VII Deficiency: Insights from a Comprehensive Analysis of Pathogenic Variants and Their Impact on Coagulation Activity.
Preisler B et al.
International Journal of Molecular Sciences, 2024
38397060 (PubMed )
Supplement: ijms-25-02384-s001.zip › ijms-2842726-supplementary.xlsx › Tabl1
Genotype-Phenotype Relationship among 785 Unrelated White Women with Inherited Congenital Factor VII Deficiency: A Three-Center Database Study.
Halimeh S et al.
Journal of Clinical Medicine, 2023
38202056 (PubMed )
Supplement: jcm-13-00049-s001.zip › jcm-2671474-supplementary.pdf
Molecular Genetic Analysis of Russian Patients with Coagulation Factor FVII Deficiency.
Pshenichnikova O et al.
Genes, 2023
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
Novel CNGA3 mutations in Chinese patients with achromatopsia.
Liang X et al.
The British Journal of Ophthalmology, 2015
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