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- 2023
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Mark
Validation of immunofluorescence analysis of blood smears in patients with inherited platelet disorders
(
- Contribution to journal › Article
- 2022
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Mark
MicroRNA-9-3p : a novel predictor of neurological outcome after cardiac arrest
(
- Contribution to journal › Article
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Mark
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants : Application of a points-based ACMG/AMP approach
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- Contribution to journal › Article
- 2021
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Mark
Highly impaired platelet ultrastructure in two families with novel IKZF5 variants
(
- Contribution to journal › Article
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Mark
Clinical characterization and identification of rare genetic variants in atypical hemolytic uremic syndrome : a Swedish retrospective observational study
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- Contribution to journal › Article
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Mark
Severe Congenital Thrombocytopenia Characterized by Decreased Platelet Sialylation and Moderate Complement Activation Caused by Novel Compound Heterozygous Variants in GNE
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- Contribution to journal › Article
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Mark
Evaluation of the Sialidase Inhibitor Oseltamivir in GNE-associated Thrombocytopenia
2021) The XXIX Congress of the International Society on Thrombosis and Haemostasis (ISTH) In Research and practice in thrombosis and haemostasis 5(S2). p.644-645(
- Contribution to journal › Published meeting abstract
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Mark
Collagen remodelling and plasma ascorbic acid levels in patients suspected of inherited bleeding disorders harbouring germline variants in collagen‐related genes
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- Contribution to journal › Article
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Mark
The Copenhagen founder variant GP1BA c.58T>G is the most frequent cause of inherited thrombocytopenia in Denmark
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- Contribution to journal › Article
- 2020
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Mark
A rare heterozygous variant in FGB (Fibrinogen Merivale) causing hypofibrinogenemia in a Swedish family
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- Contribution to journal › Article