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- 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
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