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
Molecular and clinical profile of rare bleeding disorders: A single-center retrospective study.
Moghadam AA et al.
Transfusion and Apheresis Science : Official Journal of the World Apheresis Association : Official Journal of the European Society for Haemapheresis, 2024
Extensive genetic screening of Iranian Factor FVII-deficient individuals unraveled several novel mutations and postulated founder effects in some cases.
Ravanbod S et al.
Research and Practice in Thrombosis and Haemostasis, 2023
The QChip1 knowledgebase and microarray for precision medicine in Qatar.
Rodriguez-Flores JL et al.
Npj Genomic Medicine, 2022
Next-generation sequencing and recombinant expression characterized aberrant splicing mechanisms and provided correction strategies in factor VII deficiency.
Ferraresi P et al.
Haematologica, 2020
Understanding the role of OXPHOS dysfunction in the pathogenesis of ECHS1 deficiency.
Burgin HJ et al.
Febs Letters, 2020
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