35 results on '"Giansily‐Blaizot, Muriel"'
Search Results
2. Surgery in rare bleeding disorders: the prospective MARACHI study
3. Reverse cascade diagnosis of hereditary hyperferritinemia cataract syndrome (HHCS)
4. A newly identified ferritin L‐subunit variant results in increased proteasomal subunit degradation, impaired complex assembly, and severe hypoferritinemia.
5. Critical evaluation of kinetic schemes for coagulation
6. Kinetics of the coagulation cascade including the contact activation system: sensitivity analysis and model reduction
7. Genotyping of five Pakistani patients with severe inherited factor X deficiency: identification of two novel mutations
8. Homozygosity for the hyperunstable hemoglobin variant Hb Agrinio (HBA2:c.89T>C) leads to severe antenatal anemia: Eight new cases in three families
9. APOLD1 loss causes endothelial dysfunction involving cell junctions, cytoskeletal architecture, and Weibel-Palade bodies, while disrupting hemostasis
10. Importance of Sequencing HBA1, HBA2 and HBB Genes to Confirm the Diagnosis of High Oxygen Affinity Hemoglobin
11. The role of genetic factors in patients with hepatocellular carcinoma and iron overload – a prospective series of 234 patients
12. Life-threatening bleeding in factor VII deficiency: the role of prenatal diagnosis and primary prophylaxis
13. Critical evaluation of kinetic schemes for coagulation
14. Increased incidence of germline PIEZO1 mutations in individuals with idiopathic erythrocytosis
15. The EAHAD Coagulation Factor Variant Databases: important resources for haemostasis clinicians and researchers
16. The Clinical Severity of Alpha-2 Globin Gene Variants: Homozygosity for Hb Agrinio (HBA2: c.89T>C) Leads to Severe Antenatal Anemia, about 8 Cases in 3 Families
17. The EAHAD blood coagulation factor VII variant database
18. The European Association for Haemophilia and Allied Disorders (EAHAD) Coagulation Factor Variant Databases: Important resources for haemostasis clinicians and researchers
19. The Importance of Characterizing the Hemoglobin Instability of New Variants: The Case of Hb Dompierre [β29(B11)Gly→Arg, HBB: c.88G>C]
20. Next-generation sequencing and recombinant expression characterized aberrant splicing mechanisms and provided correction strategies in factor VII deficiency
21. Molecular analysis of eight severe FV‐deficient patients in Pakistan: A large series of homozygous for frameshift mutations
22. Variants du facteur VII de la coagulation : quelle thromboplastine utiliser pour doser son activité ?
23. Increased incidence of germline PIEZO1mutations in individuals with idiopathic erythrocytosis
24. Inherited or acquired modifiers of iron status may dramatically affect the phenotype in dehydrated hereditary stomatocytosis
25. Recombinant human factor VIIa (rFVIIa) in hemophilia: mode of action and evidence to date
26. Déficit constitutionnel en facteur VII et chirurgie orthopédique majeure : entre risque hémorragique et risque thrombotique
27. Factor VII variants: which thromboplastin is the most relevant for FVII activity measurement?
28. Prospective Evaluation of Bleeding Incidence in Fibrinogen Deficiency (PRO-RBDD Study)
29. Inherited and Acquired Modifiers of Iron Status May Dramatically Affect the Phenotypic Expression of Dehydrated Hereditary Stomatocytosis
30. Isotypic analysis of antibodies against activated Factor VII in patients with Factor VII deficiency using the x-MAP technology
31. The role of genetic factors in patients with hepatocellular carcinoma and iron overload – a prospective series of 234 patients
32. Life-threatening bleeding in factor VII deficiency: the role of prenatal diagnosis and primary prophylaxis
33. Coagulation factor VII variants resistant to inhibitory antibodies.
34. APOLD1 loss causes endothelial dysfunction involving cell junctions, cytoskeletal architecture, and Weibel-Palade bodies, while disrupting hemostasis.
35. Next-generation sequencing and recombinant expression characterized aberrant splicing mechanisms and provided correction strategies in factor VII deficiency.
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