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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
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- 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
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- 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
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Mark
Collagen Turnover and Plasma Ascorbic Acid Levels in Patients Suspected of Inherited Bleeding Disorders Harboring Variants in Collagen-related Genes
2020) The XXVIII Congress of the International Society on Thrombosis and Haemostasis (ISTH) In Research and practice in thrombosis and haemostasis 4(S1). p.599-599(
- Contribution to journal › Published meeting abstract
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Mark
Genetic screening of children with suspected inherited bleeding disorders
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- Contribution to journal › Article
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Mark
Breast cancer survival in Nordic BRCA2 mutation carriers—unconventional association with oestrogen receptor status
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- Contribution to journal › Article
- 2019
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Mark
A Heterozygous FGB Variant Causing Hypofibrinogenemia in a Swedish Family
2019) The XXVII Congress of the International Society on Thrombosis and Haemostasis (ISTH) In Research and practice in thrombosis and haemostasis 3(S1). p.367-369(
- Contribution to journal › Published meeting abstract
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Mark
Outcome of an enhanced diagnostic pipeline for patients suspected of inherited thrombocytopenia
(
- Contribution to journal › Letter
- 2018
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Mark
Germline heterozygous variants in genes associated with familial hemophagocytic lymphohistiocytosis as a cause of increased bleeding
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- Contribution to journal › Article
- 2017
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Mark
Application of whole-exome sequencing to direct the specific functional testing and diagnosis of rare inherited bleeding disorders in patients from the Öresund Region, Scandinavia
(
- Contribution to journal › Article