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

Impact of Inner Retinal Layer Thinning on Visual Function in OPA1 Autosomal Dominant Optic Atrophy and Associations With Age and Genetic Variant Class

内层视网膜变薄对 OPA1 常染色体显性遗传性视神经萎缩患者视觉功能的影响及其与年龄和基因变异类型的关联

Schrittwieser, Johannes; Reitner, Andreas; Kircher, Karl; Bertich, Martin; Stapf, Christoph; Lilja, Stephanie V; Paquay, Amina; Reiter, Gregor S; Bittner, Reginald E; Schmidt, Wolfgang M; Pemp, Berthold

Phenotypic variability in female individuals with the NAA10 missense variants p.(L126R), p.(L126V), or p.(F128L) leading to NAA10-related syndrome

携带 NAA10 错义变异 p.(L126R)、p.(L126V) 或 p.(F128L) 的女性个体表现出表型变异,这些变异会导致 NAA10 相关综合征。

Bühler, Anja; Aigner-Radakovics, Katharina; Diofano, Federica; Marchi, Elaine; Weinmann-Emhardt, Karolina; Paquay, Amina; Lilja, Stephanie V; Rosensteiner, Bernhard; Harpell, Randie; Bernard, Ewelina; Just, Steffen; Bittner, Reginald E; Lyon, Gholson J; Kustermann, Monika

Multicentre cross-sectional study to assess nursing workload in Belgian emergency departments

一项多中心横断面研究旨在评估比利时急诊科的护理工作量

Ganty, Thomas; Szecel, Julien; Diep, Anh; Ghuysen, Alexandre; Paquay, Méryl

Comparative analysis of routine clinical debriefings and incident reports: insights for patient safety and teamwork enhancement

常规临床汇报与事件报告的比较分析:对提升患者安全和团队协作的启示

Paquay, Méryl; Kolbe, Michaela; Klenkenberg, Sophie; Buléon, Clément; Bertrand, Audrey; Simon, Robert; Ghuysen, Alexandre

Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant

在 m.11778G>A Leber 遗传性视神经病变变异背景下的双基因 Leigh 综合征

Blickhäuser, Beryll; Stenton, Sarah L; Neuhofer, Christiane M; Floride, Elisa; Nesbitt, Victoria; Fratter, Carl; Koch, Johannes; Kauffmann, Birgit; Catarino, Claudia; Schlieben, Lea Dewi; Kopajtich, Robert; Carelli, Valerio; Sadun, Alfredo A; McFarland, Robert; Fang, Fang; La Morgia, Chiara; Paquay, Stéphanie; Nassogne, Marie Cécile; Ghezzi, Daniele; Lamperti, Costanza; Wortmann, Saskia; Poulton, Jo; Klopstock, Thomas; Prokisch, Holger

Hierarchical assembly is more robust than egalitarian assembly in synthetic capsids

在合成衣壳中,层级式组装比平等式组装更稳健。

Wei, Wei-Shao; Trubiano, Anthony; Sigl, Christian; Paquay, Stefan; Dietz, Hendrik; Hagan, Michael F; Fraden, Seth

ACAD10 and ACAD11 allow entry of 4-hydroxy fatty acids into β-oxidation

ACAD10 和 ACAD11 允许 4-羟基脂肪酸进入 β-氧化

Stéphanie Paquay, Julia Duraffourd, Marina Bury, Isaac P Heremans, Francesco Caligiore, Isabelle Gerin, Vincent Stroobant, Jean Jacobs, Aymeric Pinon, Julie Graff, Didier Vertommen, Emile Van Schaftingen, Joseph P Dewulf, Guido T Bommer

The 2024 French guidelines for scenario design in simulation-based education: manikin-based immersive simulation, simulated participant-based immersive simulation and procedural simulation

2024年法国关于基于模拟的教育场景设计的指南:基于人体模型的沉浸式模拟、基于模拟参与者的沉浸式模拟和程序性模拟

Der Sahakian, Guillaume; de Varenne, Maxime; Buléon, Clément; Alinier, Guillaume; Balmer, Christian; Blanié, Antonia; Bech, Bertrand; Bellot, Anne; Boubaker, Hamdi; Dubois, Nadège; Guevara, Francisco; Guillouet, Erwan; Granry, Jean-Claude; Jaffrelot, Morgan; Lecomte, François; Lois, Fernande; Mouhaoui, Mohammed; Ortolé, Ollivier; Paquay, Méryl; Piazza, Justine; Pittaco, Marie; Plaisance, Patrick; Benhamou, Dan; Chiniara, Gilles; Rivière, Etienne

A success story of clinical debriefings: lessons learned to promote impact and sustainability

临床汇报的成功案例:从中汲取经验教训,以促进影响和可持续性

Paquay, Méryl; Simon, Robert; Ancion, Aurore; Graas, Gwennaëlle; Ghuysen, Alexandre

ECHDC1 knockout mice accumulate ethyl-branched lipids and excrete abnormal intermediates of branched-chain fatty acid metabolism

ECHDC1 基因敲除小鼠积累乙基支链脂质并排出支链脂肪酸代谢的异常中间体

Joseph P Dewulf, Stéphanie Paquay, Etienne Marbaix, Younès Achouri, Emile Van Schaftingen, Guido T Bommer