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

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

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

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

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

SEPT9 基因重复导致的儿童遗传性神经性肌萎缩症:一项家族研究

Katharina Neubauer, Doris Boeckelmann, Udo Koehler, Julia Kracht, Janbernd Kirschner, Manuela Pendziwiat, Barbara Zieger