9 results on '"Giansily‐Blaizot, Muriel"'
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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. Homozygosity for the hyperunstable hemoglobin variant Hb Agrinio (HBA2:c.89T>C) leads to severe antenatal anemia: Eight new cases in three families
7. APOLD1 loss causes endothelial dysfunction involving cell junctions, cytoskeletal architecture, and Weibel-Palade bodies, while disrupting hemostasis
8. Importance of Sequencing HBA1, HBA2 and HBB Genes to Confirm the Diagnosis of High Oxygen Affinity Hemoglobin
9. APOLD1 loss causes endothelial dysfunction involving cell junctions, cytoskeletal architecture, and Weibel-Palade bodies, while disrupting hemostasis.
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