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

A spontaneous missense mutation in the chromodomain helicase DNA-binding protein 8 (CHD8) gene: a novel association with congenital myasthenic syndrome

染色体解旋酶 DNA 结合蛋白 8(CHD8)基因的自发错义突变:与先天性肌无力综合征的新关联

C Y Lee, M Petkova, S Morales-Gonzalez, N Gimber, J Schmoranzer, A Meisel, W Böhmerle, W Stenzel, M Schuelke, J M Schwarz

An integrative correlation of myopathology, phenotype and genotype in late onset Pompe disease

晚发型庞贝病的肌病理学、表型和基因型的综合相关性

M Kulessa, I Weyer-Menkhoff, L Viergutz, C Kornblum, K G Claeys, I Schneider, U Plöckinger, P Young, M Boentert, S Vielhaber, C Mawrin, M Bergmann, J Weis, A Ziagaki, W Stenzel, M Deschauer, D Nolte, A Hahn, B Schoser, A Schänzer

T1/ST2 promotes T helper 2 cell activation and polyfunctionality in bronchopulmonary mycosis

T1/ST2 促进支气管肺真菌病中的 T 辅助细胞 2 活化和多功能性

D Piehler, A Grahnert, M Eschke, T Richter, G Köhler, W Stenzel, G Alber

A high-coverage genome sequence from an archaic Denisovan individual

来自一位古老丹尼索瓦人的高覆盖率基因组序列

Meyer, Matthias; Kircher, Martin; Gansauge, Marie-Theres; Li, Heng; Racimo, Fernando; Mallick, Swapan; Schraiber, Joshua G; Jay, Flora; Prüfer, Kay; de Filippo, Cesare; Sudmant, Peter H; Alkan, Can; Fu, Qiaomei; Do, Ron; Rohland, Nadin; Tandon, Arti; Siebauer, Michael; Green, Richard E; Bryc, Katarzyna; Briggs, Adrian W; Stenzel, Udo; Dabney, Jesse; Shendure, Jay; Kitzman, Jacob; Hammer, Michael F; Shunkov, Michael V; Derevianko, Anatoli P; Patterson, Nick; Andrés, Aida M; Eichler, Evan E; Slatkin, Montgomery; Reich, David; Kelso, Janet; Pääbo, Svante

Lack of IL-4 receptor expression on T helper cells reduces T helper 2 cell polyfunctionality and confers resistance in allergic bronchopulmonary mycosis

辅助细胞缺乏 IL-4 受体表达,导致 T 辅助 2 细胞多功能性降低,并导致过敏性支气管肺真菌病产生耐药性

U Müller, D Piehler, W Stenzel, G Köhler, O Frey, J Held, A Grahnert, T Richter, M Eschke, T Kamradt, F Brombacher, G Alber

Removal of deaminated cytosines and detection of in vivo methylation in ancient DNA

去除脱氨基胞嘧啶并检测古代DNA中的体内甲基化

Briggs, Adrian W; Stenzel, Udo; Meyer, Matthias; Krause, Johannes; Kircher, Martin; Pääbo, Svante