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Hamostaseologie|February 22, 2023
Inherited Platelet Disorders: A Short IntroductionBarbara Zieger, Doris Boeckelmann
Hamostaseologie|December 23, 2021
Pathogenic Aspects of Inherited Platelet DisordersDoris Boeckelmann, Hannah Glonnegger, Kirstin Sandrock-Lang, et al.
Hamostaseologie|February 1, 2022
Novel Likely Pathogenic Variant in the A3 Domain of von Willebrand Factor Leading to a Collagen-Binding DefectSalome Fels, Doris Boeckelmann, Hannah Glonnegger, et al.
Hamostaseologie|October 15, 2025
Late Diagnosis of NBEAL2-related Gray Platelet Syndrome in Finnish Siblings with Lifelong ThrombocytopeniaDoris Boeckelmann, Terhi Friman, Hannah Glonnegger, et al.
Diseases (Basel, Switzerland)|July 26, 2024
Catheter Intervention in a Patient with Intracranial Aneurysms and Glanzmann Thrombasthenia Caused by a Novel Homozygous Likely Pathogenic Variant in the ITGA2B GeneDoris Boeckelmann, Lara von Dobeneck, Hans Henkes, et al.
Cells|October 23, 2021
A Novel Likely Pathogenic Variant in the BLOC1S5 Gene Associated with Hermansky-Pudlak Syndrome Type 11 and an Overview of Human BLOC-1 DeficienciesDoris Boeckelmann, Mira Wolter, Barbara Käsmann-Kellner, et al.
Cytoskeleton (Hoboken, N.J.)|July 19, 2018
Hereditary neuralgic amyotrophy in childhood caused by duplication within the SEPT9 gene: A family studyKatharina Neubauer, Doris Boeckelmann, Udo Koehler, et al.
Frontiers in Medicine|February 12, 2026
Impact of prophylaxis, inhibitors, and genetics on joint outcomes according to the IPSG-MRI score in hemophilia A, B and vWD type 3Anna Seeliger, Sebastian Berg, Hannah Glonnegger, et al.
Cells|January 21, 2023
Glanzmann Thrombasthenia in Pakistani Patients: Identification of 7 Novel Pathogenic Variants in the Fibrinogen Receptor αIIbβ3Muhammad Younus Jamal Siddiqi, Doris Boeckelmann, Arshi Naz, et al.
Platelets|December 28, 2019
Novel variant in HPS3 gene in a patient with Hermansky Pudlak syndrome (HPS) type 3Anna Lecchi, Silvia La Marca, Eti A Femia, et al.
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