MYH9-related disease: Report on five German families and description of a novel mutation. Ann Hematol 2010;89(10):1057-9.
. MYH9 gene mutations associated with bleeding. Platelets 2017;28(3):312-315.
. Spectrum of the mutations in Bernard-Soulier syndrome. Hum Mutat 2014;35(9):1033-45.
. Clinical and genetic aspects of Bernard-Soulier syndrome: searching for genotype/phenotype correlations. Haematologica 2011;96(3):417-23.
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