Doris Boeckelmann

Novel GNE Gene Variants Associated with Severe Congenital Thrombocytopenia and Platelet Sialylation Defect

Barbara Zieger, Doris Boeckelmann, Waseem Q. Anani et al. · Thrombosis and Haemostasis · 2022 · 27 citations · Full text

Patients with Bernard-Soulier syndrome and different severity of the bleeding phenotype

Doris Boeckelmann, Heinz Hengartner, Andreas Greinacher et al. · Blood Cells Molecules and Diseases · 2017 · 25 citations

Thrombosis, Cardiovascular Disease, Hematology +8

Hereditary neuralgic amyotrophy in childhood caused by duplication within the <i>SEPT9</i> gene: A family study

Katharina Neubauer, Doris Boeckelmann, Udo Koehler et al. · Cytoskeleton · 2018 · 16 citations · Full text

Genetics, Genetic Epidemiology, Disease Gene Identification +20

Hermansky-Pudlak Syndrome: Identification of Novel Variants in the Genes HPS3, HPS5, and DTNBP1 (HPS-7)

Doris Boeckelmann, Mira Wolter, Katharina Neubauer et al. · Frontiers in Pharmacology · 2022 · 13 citations · Full text

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

José María Bastida, Stefano Malvestiti, Doris Boeckelmann et al. · Cells · 2022 · 12 citations · Full text