1 – 15 of 15
- show: 15
- |
- sort: year (new to old)
Close
Embed this list
<iframe src=" "
width=" "
height=" "
allowtransparency="true"
frameborder="0">
</iframe>
- 2023
-
Mark
Validation of immunofluorescence analysis of blood smears in patients with inherited platelet disorders
(
- Contribution to journal › Article
- 2022
-
Mark
Platelet function testing : Current practice among clinical centres in Northern Europe
(
- Contribution to journal › Article
- 2021
-
Mark
Highly impaired platelet ultrastructure in two families with novel IKZF5 variants
(
- Contribution to journal › Article
-
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
-
Mark
Severe Congenital Thrombocytopenia Characterized by Decreased Platelet Sialylation and Moderate Complement Activation Caused by Novel Compound Heterozygous Variants in GNE
(
- Contribution to journal › Article
-
Mark
Collagen remodelling and plasma ascorbic acid levels in patients suspected of inherited bleeding disorders harbouring germline variants in collagen‐related genes
(
- Contribution to journal › Article
-
Mark
The Copenhagen founder variant GP1BA c.58T>G is the most frequent cause of inherited thrombocytopenia in Denmark
(
- Contribution to journal › Article
- 2020
-
Mark
A rare heterozygous variant in FGB (Fibrinogen Merivale) causing hypofibrinogenemia in a Swedish family
(
- Contribution to journal › Article
-
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
-
Mark
Genetic screening of children with suspected inherited bleeding disorders
(
- Contribution to journal › Article
- 2019
-
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
-
Mark
Outcome of an enhanced diagnostic pipeline for patients suspected of inherited thrombocytopenia
(
- Contribution to journal › Letter
- 2018
-
Mark
A novel variant glanzmann thrombasthenia due to co-inheritance of a loss-and a gain-of-function mutation of ITGB3 : Evidence of a dominant effect of gain-of-function mutations
(
- Contribution to journal › Letter
-
Mark
Germline heterozygous variants in genes associated with familial hemophagocytic lymphohistiocytosis as a cause of increased bleeding
(
- Contribution to journal › Article
- 2017
-
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