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
A novel mutation in GP1BA gene in a family with autosomal dominant Bernard Soulier syndrome variant: A case report.
Ma J et al.
Experimental and Therapeutic Medicine, 2021
A novel germline mutation in GP1BA gene N-terminal domain in monoallelic Bernard-Soulier syndrome.
Trizuljak J et al.
Platelets, 2018
Gene of the issue: GP1BA gene mutations associated with bleeding.
Othman M et al.
Platelets, 2017
Congenital macrothrombocytopenia is a heterogeneous disorder in India.
Ali S et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2016
Progress in understanding the diagnosis and molecular genetics of macrothrombocytopenias.
Favier R et al.
British Journal of Haematology, 2015
Spectrum of the mutations in Bernard-Soulier syndrome.
Savoia A et al.
Human Mutation, 2014
Genetics of familial forms of thrombocytopenia.
Balduini CL et al.
Human Genetics, 2012
Select a paper to view details