Associated Papers
Proteomic landscapes of inherited platelet disorders with different etiologies.
Kreft IC et al.
Journal of Thrombosis and Haemostasis : Jth, 2023
A comprehensive bioinformatic analysis of 126 patients with an inherited platelet disorder to identify both sequence and copy number genetic variants.
Almazni I et al.
Human Mutation, 2020
A novel GFI1B mutation at the first zinc finger domain causes congenital macrothrombocytopenia.
Uchiyama Y et al.
British Journal of Haematology, 2018
Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects.
Johnson B et al.
Haematologica, 2016
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