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

LTβR deficiency causes lymph node aplasia and impaired B cell differentiation.

LTβR 缺乏会导致淋巴结发育不全和 B 细胞分化受损

Ransmayr Bernhard, Bal Sevgi Köstel, Thian Marini, Svaton Michael, van de Wetering Cheryl, Hafemeister Christoph, Segarra-Roca Anna, Block Jana, Frohne Alexandra, Krolo Ana, Altunbas Melek Yorgun, Bilgic-Eltan Sevgi, Kıykım Ayça, Aydiner Omer, Kesim Selin, Inanir Sabahat, Karakoc-Aydiner Elif, Ozen Ahmet, Aba Ümran, Çomak Aylin, Tuğcu Gökçen Dilşa, Pazdzior Robert, Huber Bettina, Farlik Matthias, Kubicek Stefan, von Bernuth Horst, Simonitsch-Klupp Ingrid, Rizzi Marta, Halbritter Florian, Tumanov Alexei V, Kraakman Michael J, Metin Ayşe, Castanon Irinka, Erman Baran, Baris Safa, Boztug Kaan

A single-center cohort study of patients with hereditary spherocytosis in Central Europe reveals a high frequency of novel disease-causing genotypes

一项针对中欧遗传性球形红细胞症患者的单中心队列研究揭示了新型致病基因型的高频率。

Kager, Leo; Jimenez-Heredia, Raúl; Zeitlhofer, Petra; Novak, Wolfgang; Eder, Sebastian K; Segarra-Roca, Anna; Frohne, Alexandra; Nebral, Karin; Haimel, Matthias; Geyeregger, René; Roetzer-Londgin, Katharina; Haas, Oskar A; Boztug, Kaan

Novel PGM3 mutation in two siblings with combined immunodeficiency and childhood bullous pemphigoid: a case report and review of the literature

两名患有联合免疫缺陷和儿童大疱性类天疱疮的兄弟姐妹中发现新的PGM3突变:病例报告及文献综述

Fallahi, Mazdak; Jamee, Mahnaz; Enayat, Javad; Abdollahimajd, Fahimeh; Mesdaghi, Mehrnaz; Khoddami, Maliheh; Segarra-Roca, Anna; Frohne, Alexandra; Dmytrus, Jasmin; Keramatipour, Mohammad; Mansouri, Mahboubeh; Eslamian, Golnaz; Fallah, Shahrzad; Boztug, Kaan; Chavoshzadeh, Zahra