Hat mitgewirkt an:
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Biochemische und molekulargenetische Charakterisierung von Patientinnen und Patienten mit angeborener Thrombozytopathie oder Thrombozytopenie mittels Next-Generation-Sequencing
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A Novel GATA1 Variant in the C-Terminal Zinc Finger Compared with the Platelet Phenotype of Patients with A Likely Pathogenic Variant in the N-Terminal Zinc Finger
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A novel GATA1 variant in the C-terminal zinc finger compared with the platelet phenotype of patients with a likely pathogenic variant in the N-terminal zinc finger
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Panel sequencing identified a novel splice site mutation in Hermansky-Pudlak syndrome type 1 patients