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

Generation of the human induced pluripotent stem cell line (IBKMOLi002-A) from PBMCs of a patient carrying the heterozygous L271H mutation of the voltage-gated calcium channel subunit Cav1.3-encoding CACNA1D gene

从携带电压门控钙通道亚基 Cav1.3 编码 CACNA1D 基因杂合 L271H 突变的患者的 PBMCs 生成人类诱导性多能干细胞系 (IBKMOLi002-A)

Marcel Tisch, María Carmen De Mingo Alemany, Marta Suarez-Cubero, Christine Fauth, Michaela Defrancesco, Johannes Zschocke, Katharina Günther, Frank Edenhofer

High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one-third of probands are minors

脑海绵状畸形的突变检测率高,纳入标准严格:三分之一的病患为未成年人

Stefanie Spiegler, Juliane Najm, Jian Liu, Stephanie Gkalympoudis, Winnie Schröder, Guntram Borck, Knut Brockmann, Miriam Elbracht, Christine Fauth, Andreas Ferbert, Leonie Freudenberg, Ute Grasshoff, Yorck Hellenbroich, Wolfram Henn, Sabine Hoffjan, Irina Hüning, G Christoph Korenke, Peter M Kroise

Caregiver personality predicts rate of cognitive decline in a community sample of persons with Alzheimer's disease. The Cache County Dementia Progression Study

照护者性格可以预测阿尔茨海默病患者社区样本的认知衰退速度。卡什县痴呆症进展研究

Norton, Maria C; Clark, Christine; Fauth, Elizabeth B; Piercy, Kathleen W; Pfister, Roxane; Green, Robert C; Corcoran, Christopher D; Rabins, Peter V; Lyketsos, Constantine G; Tschanz, Joann T

Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome

ROGDI 突变导致 Kohlschütter-Tönz 综合征

Anna Schossig, Nicole I Wolf, Christine Fischer, Maria Fischer, Gernot Stocker, Stephan Pabinger, Andreas Dander, Bernhard Steiner, Otmar Tönz, Dieter Kotzot, Edda Haberlandt, Albert Amberger, Barbara Burwinkel, Katharina Wimmer, Christine Fauth, Caspar Grond-Ginsbach, Martin J Koch, Annette Deichma