日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Impact of prophylaxis, inhibitors, and genetics on joint outcomes according to the IPSG-MRI score in hemophilia A, B and vWD type 3

根据IPSG-MRI评分,预防、抑制剂和遗传因素对A型、B型血友病和3型血管性血友病患者关节结局的影响

Seeliger, Anna; Berg, Sebastian; Glonnegger, Hannah; Boeckelmann, Doris; Uhl, Markus; Oldenburg, Johannes; Schlagenhauf, Axel; Zieger, Barbara

RUNX1-FPDMM in families with mild thrombocytopenia and platelet function anomalies: a case series

RUNX1-FPDMM 在伴有轻度血小板减少症和血小板功能异常的家族中:病例系列

Glonnegger, Hannah; Boeckelmann, Doris; Wiedenhöfer, Rebekka; Hassenpflug, Wolf-Achim; Ripperger, Tim; Lebrecht, Dirk; Knöfler, Ralf; Tiebel, Oliver; Koehler, Udo; Wehr, Claudia; Sirb, Harry; Sparber-Sauer, Monika; Reinsberger, Katrin; Yoshimi, Ayami; Strahm, Brigitte; Zieger, Barbara

Catheter Intervention in a Patient with Intracranial Aneurysms and Glanzmann Thrombasthenia Caused by a Novel Homozygous Likely Pathogenic Variant in the ITGA2B Gene

导管介入治疗因 ITGA2B 基因中新的纯合可能致病变异导致的颅内动脉瘤和格兰茨曼血小板无力症患者

Doris Boeckelmann, Lara von Dobeneck, Hans Henkes, Hermann Eichler, Hannah Glonnegger, Barbara Zieger

Glanzmann Thrombasthenia in Pakistani Patients: Identification of 7 Novel Pathogenic Variants in the Fibrinogen Receptor αIIbβ3

巴基斯坦患者的格朗茨曼血小板无力症:纤维蛋白原受体αIIbβ3中7种新型致病变异的鉴定

Siddiqi, Muhammad Younus Jamal; Boeckelmann, Doris; Naz, Arshi; Imran, Ayisha; Ahmed, Shariq; Najmuddin, Akbar; Zieger, Barbara

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

端锌指结构中的新型 GATA1 变异与 N 端锌指结构中可能致病变异患者的血小板表型比较

José M Bastida, Stefano Malvestiti, Doris Boeckelmann, Verónica Palma-Barqueros, Mira Wolter, María L Lozano, Hannah Glonnegger, Rocío Benito, Carlo Zaninetti, Felix Sobotta, Freimut H Schilling, Neil V Morgan, Kathleen Freson, José Rivera, Barbara Zieger

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

Hermansky-Pudlak 综合征:HPS3、HPS5 和 DTNBP1 (HPS-7) 基因中新变异的鉴定

Doris Boeckelmann, Mira Wolter, Katharina Neubauer, Felix Sobotta, Antonia Lenz, Hannah Glonnegger, Barbara Käsmann-Kellner, Jasmin Mann, Stephan Ehl, Barbara Zieger

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

与严重先天性血小板减少症和血小板唾液酸化缺陷相关的新型GNE基因变异

Zieger, Barbara; Boeckelmann, Doris; Anani, Waseem; Falet, Hervé; Zhu, Jieqing; Glonnegger, Hannah; Full, Hermann; Andresen, Felicia; Erlacher, Miriam; Lausch, Ekkehart; Fels, Salome; Strahm, Brigitte; Lang, Peter; Hoffmeister, Karin M

A Novel Likely Pathogenic Variant in the BLOC1S5 Gene Associated with Hermansky-Pudlak Syndrome Type 11 and an Overview of Human BLOC-1 Deficiencies

与 Hermansky-Pudlak 综合征 11 型相关的 BLOC1S5 基因中一种新的可能致病变异以及人类 BLOC-1 缺陷概述

Doris Boeckelmann, Mira Wolter, Barbara Käsmann-Kellner, Udo Koehler, Lea Schieber-Nakamura, Barbara Zieger

24 h-Heart Rate Variability as a Communication Tool for a Personalized Psychosomatic Consultation in Occupational Health

24小时心率变异性作为职业健康领域个性化身心健康咨询的沟通工具

Jarczok, Marc N; Buckley, Thomas; Guendel, Harald O; Boeckelmann, Irina; Mauss, Daniel; Thayer, Julian F; Balint, Elisabeth M

Naturally occurring point mutation Cys460Trp located in the I-EGF1 domain of integrin β3 alters the binding of some anti-HPA-1a antibodies

整合素β3 I-EGF1结构域中天然存在的Cys460Trp点突变会改变某些抗HPA-1a抗体的结合。

Holzwarth, Sarah Theresa; Bayat, Behnaz; Zhu, Jieqing; Phuangtham, Roongaroon; Fischer, Lars; Boeckelmann, Doris; Röder, Lida; Berghöfer, Heike; Schmidt, Silke; Bein, Gregor; Santoso, Sentot