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

Expanding the Genetic and Phenotypic Spectrum of DYT-VPS16: The Importance of Splice-Site Variants

扩展DYT-VPS16的遗传和表型谱:剪接位点变异的重要性

Westenberger, Ana; Verdura, Edgard; Radefeldt, Mandy; Sanderson, Leslie E; Tripolszki, Kornelia; Marcé-Grau, Anna; Cazurro-Gutiérrez, Ana; Nikoncuk, Anita; Herzog, Rebecca; Al-Ali, Ruslan; Ferreira, Mariana; Almeida, Ligia S; Silveira, Tainá Regina Damaceno; Khan, Suliman; Maia, Raphael Doyle; Klivényi, Péter; Salamon, András; Baltaci, Volkan; Subasioglu, Asli; Prada-Arismendy, Jeanette; Čuturilo, Goran; Loens, Sebastian; Tadic, Vera; Maystadt, Isabelle; Karadurmus, Deniz; Leube, Barbara; De Winter, Jonathan; Monticelli, Alice; De Waele, Liesbeth; Baets, Jonathan; Vinkšel, Mateja; Maver, Aleš; Tschopp, Lorena; Ziegler, Gabriela; Sanguinetti, Ana; Lohmann, Katja; Barakat, Tahsin Stefan; Bauer, Peter; Perez-Dueñas, Belén; Bertoli-Avella, Aida M

The p.(Leu97Ile) variant expands the genetic landscape of NEFL-associated Charcot-Marie-tooth neuropathies

p.(Leu97Ile)变异扩展了NEFL相关夏科-马里-图斯神经病的遗传图谱

Oeztuerk, Menekse; Walli, Sara; Muhmann, David; Choueiri, Catherine; Dobelmann, Vera; Abicht, Angela; Leube, Barbara; Schara-Schmidt, Ulrike; Meuth, Sven G; Horvath, Rita; Lochmueller, Hanns; Roos, Andreas; Ruck, Tobias

Implementation of Matrix-Matched Semiquantification of PFAS in AFFF-Contaminated Soil

基质匹配半定量法测定AFFF污染土壤中的PFAS

Capitain, Catharina; Schüßler, Melanie; Bugsel, Boris; Zweigle, Jonathan; Vogel, Christian; Leube, Peter; Zwiener, Christian

Laminin-defined mechanical status modulates retinal pigment epithelium phagocytosis

层粘连蛋白定义的机械状态调节视网膜色素上皮细胞的吞噬作用

Aleksandra N Kozyrina # ,Teodora Piskova # ,Francesca Semeraro ,Iris C Doolaar ,Taspia Prapty ,Tamás Haraszti ,Maxime Hubert ,Reinhard Windoffer ,Rudolf E Leube ,Ana-Sunčana Smith ,Jacopo Di Russo

Epicardial Abnormalities and Mesenchymal/Hematopoietic Cell Expansion in Plakophilin 2-Null Mouse Embryonic Hearts

Plakophilin 2 基因敲除小鼠胚胎心脏的心外膜异常和间充质/造血细胞扩增

Bolaji, Mistura Dolapo; Hartmann, Pia E; Buhl, Eva Miriam; Colpaert, Robin M W; Gasparella, Francesca; Windt, Leon J de; Calore, Martina; Leube, Rudolf E; Moazzen, Hoda

SRC and ERK Regulate the Turnover of Cytoskeletal Keratin Filaments

SRC 和 ERK 调节细胞骨架角蛋白丝的周转

Moch, Marcin; Leube, Rudolf E

Development and evaluation of analytical strategies for the monitoring of per- and polyfluoroalkyl substances from lithium-ion battery recycling materials

开发和评估用于监测锂离子电池回收材料中全氟和多氟烷基物质的分析策略

Meiers, Emelie; Scholl, Juliane; Droas, Morten; Vogel, Christian; Leube, Peter; Sommerfeld, Thomas; Bagheri, Abbas; Adam, Christian; Seubert, Andreas; Koch, Matthias

Comprehensive genotype-phenotype analysis in POLR3-related disorders

POLR3相关疾病的综合基因型-表型分析

Michell-Robinson, Mackenzie A; Perrier, Stefanie; Gauthier, Samuel; Derksen, Alexa; Sabbagh, Quentin; Girbig, Mathias; Misiaszek, Agata D; Pizzino, Amy M; Renaud, Deborah L; De Assis Pereira, Danilo; Okuda, Paola; Karoleska, Luciana Maestri; Keller, Stephanie; Chong, Karen; Gauquelin, Laurence; Brais, Bernard; Leube, Barbara; Grider, Tiffany; Shy, Michael E; Schüle, Rebecca; Minnerop, Martina; Bertini, Enrico; Nicita, Francesco; Tonduti, Davide; Müller, Christoph W; Vanderver, Adeline; Wolf, Nicole I; Bernard, Geneviève

Changes in Epithelial Cell Polarity and Adhesion Guide Human Endometrial Receptivity: How In Vitro Systems Help to Untangle Mechanistic Details

上皮细胞极性和黏附性的变化引导人类子宫内膜容受性:体外系统如何帮助我们揭示其机制细节

Classen-Linke, Irmgard; Buck, Volker U; Sternberg, Anna K; Kohlen, Matthias; Izmaylova, Liubov; Leube, Rudolf E

Endurance Training Provokes Arrhythmogenic Right Ventricular Cardiomyopathy Phenotype in Heterozygous Desmoglein-2 Mutants: Alleviation by Preload Reduction

耐力训练在杂合的 Desmoglein-2 突变体中诱发致心律失常性右心室心肌病表型:通过减少前负荷来缓解

Larissa Fabritz, Lisa Fortmueller, Katja Gehmlich, Sebastian Kant, Marcel Kemper, Dana Kucerova, Fahima Syeda, Cornelius Faber, Rudolf E Leube, Paulus Kirchhof, Claudia A Krusche