Associated Papers
Bernard-Soulier Syndrome: A Review of Epidemiology, Molecular Pathology, Clinical Features, Laboratory Diagnosis, and Therapeutic Management.
Kaya Z
Seminars in Thrombosis and Hemostasis, 2025
Bernard-Soulier syndrome caused by two novel heterozygous GP1BA gene mutations: a case report and literature review.
Zhang S et al.
Hematology (amsterdam, Netherlands), 2024
Expanding the understanding of telomere biology disorder with reports from two families harboring variants in ZCCHC8 and TERC.
Nitschke NJ et al.
Clinical Genetics, 2024
The Copenhagen founder variant GP1BA c.58T>G is the most frequent cause of inherited thrombocytopenia in Denmark.
Leinøe E et al.
Journal of Thrombosis and Haemostasis : Jth, 2021
GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis.
Megy K et al.
Journal of Thrombosis and Haemostasis : Jth, 2021
34355501 (PubMed )
Supplement: JTH-19-2612-s004.xlsx › ALL
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.
Leinøe E et al.
British Journal of Haematology, 2017
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