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Hamostaseologie|May 4, 2026
Navigating the Diagnostic and Clinical Spectrum of Thrombocytopenia and Thrombocytopathy: Lessons from a Case SeriesHannah Glonnegger, Doris Boeckelmann, Rebekka Wiedenhoefer, et al.
Frontiers in Pharmacology|February 7, 2022
Hermansky-Pudlak Syndrome: Identification of <i>Novel</i> Variants in the Genes <i>HPS3</i>, <i>HPS5,</i> and <i>DTNBP1</i> (HPS-7)Doris Boeckelmann, Mira Wolter, Katharina Neubauer, et al.
Transfusion|August 10, 2020
Naturally occurring point mutation Cys460Trp located in the I-EGF1 domain of integrin β3 alters the binding of some anti-HPA-1a antibodiesSarah Theresa Holzwarth, Behnaz Bayat, Jieqing Zhu, et al.
Blood Advances|June 30, 2023
High-throughput microfluidic blood testing to phenotype genetically linked platelet disorders: an aid to diagnosisDelia I Fernandez, Isabella Provenzale, Matthias Canault, et al.
Thrombosis and Haemostasis|January 20, 2022
Novel GNE Gene Variants Associated with Severe Congenital Thrombocytopenia and Platelet Sialylation DefectBarbara Zieger, Doris Boeckelmann, Waseem Anani, et al.
Frontiers in Medicine|December 29, 2025
RUNX1-FPDMM in families with mild thrombocytopenia and platelet function anomalies: a case seriesHannah Glonnegger, Doris Boeckelmann, Rebekka Wiedenhöfer, et al.
Cells|October 27, 2022
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 FingerJosé M Bastida, Stefano Malvestiti, Doris Boeckelmann, et al.
Hamostaseologie|January 27, 2025
The Diagnostic Assessment of Platelet Function Defects - Part 2: Update on Platelet DisordersKarina Althaus, Gero Hoepner, Barbara Zieger, et al.
Hamostaseologie|January 27, 2025
The Diagnostic Assessment of Inherited Platelet Function Defects - Part 1: An Overview of the Diagnostic Approach and Laboratory MethodsGero Hoepner, Karina Althaus, Jens Müller, et al.
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