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

Phenotypic spectrum of RNU4ATAC-related spliceosomopathies: four novel cases and integrated reevaluation of previously reported patients

RNU4ATAC相关剪接体病的表型谱:4例新病例及对既往报道患者的综合重新评估

Lovric, Svjetlana; Berking, Ann-Cathrine; Ringshausen, Felix C; Körholz, Julia; Porrmann, Joseph; Hütter, Sylvia; Bräsen, Jan H; di Donato, Nataliya; Schmidt-Ott, Kai M; Witte, Torsten; von Hardenberg, Sandra; Sogkas, Georgios

Broadening the Clinical Spectrum of Axonal Hereditary Neuropathies: A Comparative Case Study on DNAJB2- and HINT1-Related Disease

拓展轴突遗传性神经病临床谱:DNAJB2 和 HINT1 相关疾病的比较病例研究

Bjelica, Bogdan; Hendrich, Corinna; von Hardenberg, Sandra; Vukojevic, Milica; Körner, Sonja; Gschwendtberger, Thomas; Haghikia, Aiden; Peric, Stojan; Petri, Susanne

Establishment of the phagophore-ERES membrane contact site initiates phagophore elongation

吞噬泡-ERES膜接触位点的建立启动吞噬泡的延伸

Rubén Gómez-Sánchez ,Sabrina Chumpen Ramirez # ,Prado Vargas Duarte # ,Yan Hu ,Muriel Mari ,Katharina Olschewski ,Ralph Hardenberg ,J Christopher Fromme ,Christian Ungermann ,Fulvio Reggiori

De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies

RYBP基因的新生突变与严重的神经发育障碍和先天性异常有关。

Weisz-Hubshman, Monika; Burrage, Lindsay C; Jangam, Sharayu V; Rosenfeld, Jill A; von Hardenberg, Sandra; Bergmann, Anke; Richter, Manuela Friederike; Rydzanicz, Malgorzata; Ploski, Rafal; Stembalska, Agnieszka; Chung, Wendy K; Hernan, Rebecca R; Lim, Foong Y; Brunet, Theresa; Syrbe, Steffen; Keren, Boris; Heide, Solveig; Murdock, David R; Dai, Hongzheng; Xia, Fan; Ketkar, Shamika; Dawson, Brian; Narayanan, Vinodh; Graves, Hillary K; Wangler, Michael F; Bacino, Carlos; Lee, Brendan

Antifungal Policy and Practice Across Five Countries: A Qualitative Review

五国抗真菌政策与实践:一项定性综述

Denning, David W; Perfect, John R; Milevska-Kostova, Neda; Haderi, Artes; Armstrong, Hannah; Hardenberg, Maarten C; Chavez, Emily; Altevogt, Bruce; Holmes, Patrick; Aram, Jalal A

Opt1 imports CoA precursors as glutathione mixed disulfides.

Opt1 以谷胱甘肽混合二硫化物的形式导入 CoA 前体

Wedman Jouke Jan, de Vries Lotte, van Lingen Bart, van der Zwaag Marianne, Gómez-Sánchez Rubén, Hardenberg Ralph, Huibers Wim, Permentier Hjalmar, Strauss Erick, Chang Michael, Reggiori Fulvio, de Kroon Anton I, Sibon Ody C M, Schepers Hein

Prognostic scores for predicting overall survival in patients with metastatic renal and urothelial cancer undergoing immunotherapy - which one to use?

接受免疫治疗的转移性肾癌和尿路上皮癌患者的总生存期预测预后评分——应该使用哪一种?

Walach, Margarete Teresa; Burger, Ralph; Brumm, Felix; Nitschke, Katja; Wessels, Frederik; Nuhn, Philipp; Worst, Thomas Stephan; von Hardenberg, Jost; Grüne, Britta; Jarczyk, Jonas

Antipredator behaviour as a major determinant of prey altitudinal movements: the wolf and the chamois

反捕食行为是决定猎物垂直迁移的主要因素:狼和羚羊

Orazi, Valerio; Panaccio, Matteo; Lovari, Sandro; Belardi, Irene; von Hardenberg, Achaz; Bassano, Bruno; Ferretti, Francesco

Multicentre pragmatic embedded stepped wedge cluster randomised trial comparing glucose 5% with sodium chloride 0.9% as the default drug diluent in the ICU: the sweet-water trial protocol

一项多中心实用性嵌入式阶梯楔形整群随机试验,比较了5%葡萄糖溶液与0.9%氯化钠溶液作为ICU默认药物稀释剂的效果:甜水试验方案

Hardenberg, Jan-Hendrik Bernhard; Hinz, Ricarda Merle; Pigorsch, Mareen; Uhrig, Alexander; Müller-Redetzky, Holger; Nee, Jens; Schroeder, Tim; Witzenrath, Martin; Trost, Ulrike; Zickler, Daniel; Hunsicker, Oliver; Weiss, Bjoern; Weber-Carstens, Steffen; Spies, Claudia; Tampe, Björn; Borgstedt, Rainer; Abu-Tair, Mariam; Zarbock, Alexander; Strauß, Christian; Schenk, Heiko; Hildebrand, Uta; von Wedel, Dario; Balzer, Felix; Eckardt, Kai-Uwe; Enghard, Philipp

Low lymphozyte pool, colon perforation and hydrocephalus as clinical features in an infant with a postzygotic PIK3CA variant

低淋巴细胞池、结肠穿孔和脑积水是患有合子后PIK3CA变异的婴儿的临床特征

Ximena Léon-Lara ,Sarina Ravens ,Sandra von Hardenberg ,Bernd Auber ,Anke K Bergmann ,Laura Ospina ,Florian Guthmann ,Christiane Wübbena ,Jan Brechler ,Jürgen Weidemann ,Manuela F Richter