Associated Papers
Clinical Utility of a Targeted Next-Generation Sequencing Panel for Inherited Platelet Disorders in Children.
Kaçar D et al.
Diagnostics (basel, Switzerland), 2025
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L et al.
Blood, 2023
37647632 (PubMed )
Supplement: BLOOD_BLD-2023-020118-mmc3.xlsx › ST3.3
Molecular genetic diagnosis of Glanzmann syndrome in Iranian population; reporting novel and recurrent mutations.
Zafarghandi Motlagh F et al.
Orphanet Journal of Rare Diseases, 2019
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
28748566 (PubMed )
Supplement: BJH-179-308-s001.docx
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