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

Integrating Long-Read Nanopore Sequencing for Precision Resolution of Genomic Variants in Dystonia

整合长读长纳米孔测序技术以精确解析肌张力障碍中的基因组变异

Sorrentino, Ugo; Pavlov, Martin; Mirza-Schreiber, Nazanin; Brugger, Melanie; Brunet, Theresa; Tsoma, Eugenia; Saparov, Alice; Dzinovic, Ivana; Harrer, Philip; Stehr, Antonia M; Wagner, Matias; Tilch, Erik; Wallacher, Barbara; Alhasan, Shiraz; Koy, Anne; Di Fonzo, Alessio; Kolnikova, Miriam; Kusikova, Katarina; Havrankova, Petra; Tautanova, Raushana; Lösecke, Sandy; Eck, Sebastian; Boesch, Sylvia; Necpal, Jan; Skorvanek, Matej; Jech, Robert; Prokisch, Holger; Winkelmann, Juliane; Oexle, Konrad; Graf, Elisabeth; Zech, Michael

Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.

基因组学和蛋白质组学相结合,揭示了肌张力障碍中难以捉摸的变异和巨大的病因异质性

Zech Michael, Dzinovic Ivana, Skorvanek Matej, Harrer Philip, Necpal Jan, Kopajtich Robert, Kittke Volker, Tilch Erik, Zhao Chen, Tsoma Eugenia, Sorrentino Ugo, Indelicato Elisabetta, Stehr Antonia, Saparov Alice, Abela Lucia, Adamovicova Miriam, Afenjar Alexandra, Assmann Birgit, Baloghova Janette, Baumann Matthias, Berutti Riccardo, Brezna Zuzana, Brugger Melanie, Brunet Theresa, Cogne Benjamin, Colangelo Isabel, Conboy Erin, Distelmaier Felix, Eckenweiler Matthias, Garavaglia Barbara, Geerlof Arie, Graf Elisabeth, Hackenberg Annette, Harvanova Denisa, Haslinger Bernhard, Havrankova Petra, Hoffmann Georg F, Janzarik Wibke G, Keren Boris, Kolnikova Miriam, Kolokotronis Konstantinos, Kosutzka Zuzana, Koy Anne, Krenn Martin, Krygier Magdalena, Kusikova Katarina, Maier Oliver, Meitinger Thomas, Mertes Christian, Milenkovic Ivan, Monfrini Edoardo, Santos Dias Mourao Andre, Musacchio Thomas, Nizon Mathilde, Ostrozovicova Miriam, Pavlov Martin, Prihodova Iva, Rektorova Irena, Romito Luigi M, Rybanska Barbora, Sadr-Nabavi Ariane, Schwenger Susanne, Shoeibi Ali, Sitzberger Alexandra, Smirnov Dmitrii, Svantnerova Jana, Tautanova Raushana, Toelle Sandra P, Ulmanova Olga, Vetrini Francesco, Vill Katharina, Wagner Matias, Weise David, Zorzi Giovanna, Di Fonzo Alessio, Oexle Konrad, Berweck Steffen, Mall Volker, Boesch Sylvia, Schormair Barbara, Prokisch Holger, Jech Robert, Winkelmann Juliane

Trio Exome Sequencing in VACTERL Association

VACTERL 关联中的三重外显子组测序

Ćomić, Jasmina; Tilch, Erik; Riedhammer, Korbinian M; Brugger, Melanie; Brunet, Theresa; Eyring, Katharina; Vill, Katharina; Redler, Silke; Tasic, Velibor; Schmiedeke, Eberhard; Schäfer, Frank-Mattias; Abazi-Emini, Nora; Jenetzky, Ekkehart; Schwarzer, Nicole; Widenmann, Anke; Lacher, Martin; Zech, Michael; Grasshoff-Derr, Sabine; Geßner, Michaela; Kabs, Carmen; Seitz, Barbara; Heydweiller, Andreas C; Muensterer, Oliver; Lange-Sperandio, Bärbel; Rolle, Udo; Schumacher, Johannes; Braunisch, Matthias C; Berutti, Riccardo; Reutter, Heiko; Hoefele, Julia

The MCL elderly III trial protocol: an international, randomized, open-label phase II trial to investigate the combinations of venetoclax, ibrutinib and rituximab or bendamustine, ibrutinib and rituximab in patients with treatment naive mantle cell lymphoma not eligible for dose-intensive treatment

MCL老年患者III期试验方案:一项国际性、随机、开放标签的II期临床试验,旨在研究维奈托克、伊布替尼和利妥昔单抗联合用药或苯达莫司汀、伊布替尼和利妥昔单抗联合用药治疗不适合接受高剂量治疗的初治套细胞淋巴瘤患者的疗效。

Herold, Stephanie; Schmidt, Christian; Visco, Carlo; Tilch, Marie-Kristin; Ohler, Anke; Unterhalt, Michael; Hoster, Eva; Hoenig, Elisabeth; Singer, Susanne; Tucci, Alessandra; Pott, Christiane; Ladetto, Marco; Hess, Georg; Dreyling, Martin

A fast sample shuttle to couple high and low magnetic fields and applications in high-resolution relaxometry

一种用于耦合高低磁场的快速样品穿梭装置及其在高分辨率弛豫测量中的应用

Villanueva-Garibay, Jorge A; Tilch, Andreas; Aguilar Alva, Ana Paula; Bouvignies, Guillaume; Engelke, Frank; Ferrage, Fabien; Glémot, Agnes; le Paige, Ulric B; Licciardi, Giulia; Luchinat, Claudio; Parigi, Giacomo; Pelupessy, Philippe; Ravera, Enrico; Ruda, Alessandro; Siemons, Lucas; Stenström, Olof; Tyburn, Jean-Max

Phenotypic and genome-wide studies on dicarbonyls: major associations to glomerular filtration rate and gamma-glutamyltransferase activity

二羰基的表型和全基因组研究:与肾小球滤过率和γ-谷氨酰转移酶活性的主要关联

Philip Harrer, Julica Inderhees, Chen Zhao, Barbara Schormair, Erik Tilch, Christian Gieger, Annette Peters, Olaf Jöhren, Thomas Fleming, Peter P Nawroth, Klaus Berger, Marco Hermesdorf, Juliane Winkelmann, Markus Schwaninger, Konrad Oexle1

A Versatile Microfluidic Device System that Lacks a Synthetic Extracellular Matrix Recapitulates the Blood-Brain Barrier and Dynamic Tumor Cell Interaction.

一种缺乏合成细胞外基质的多功能微流控装置系统,能够重现血脑屏障和动态肿瘤细胞相互作用

Santillán-Cortez Daniel, Castell-Rodríguez Andrés Eliú, González-Arenas Aliesha, Suárez-Cuenca Juan Antonio, Pérez-Koldenkova Vadim, Añorve-Bailón Denisse, Toledo-Lozano Christian Gabriel, García Silvia, Escamilla-Tilch Mónica, Mondragón-Terán Paul

Episignature analysis of moderate effects and mosaics

中等效应和镶嵌效应的表观遗传学分析

Oexle, Konrad; Zech, Michael; Stühn, Lara G; Siegert, Sandy; Brunet, Theresa; Schmidt, Wolfgang M; Wagner, Matias; Schmidt, Axel; Engels, Hartmut; Tilch, Erik; Monestier, Olivier; Destrėe, Anne; Hanker, Britta; Boesch, Sylvia; Jech, Robert; Berutti, Riccardo; Kaiser, Frank; Haslinger, Bernhard; Haack, Tobias B; Garavaglia, Barbara; Krawitz, Peter; Winkelmann, Juliane; Mirza-Schreiber, Nazanin

Ethical and coordinative challenges in setting up a national cohort study during the COVID-19 pandemic in Germany

在德国新冠疫情期间开展全国性队列研究面临的伦理和协调挑战

Tilch, Katharina; Pütz, Sina M; Appel, Katharina; Kraus, Monika; Lorenz-Depiereux, Bettina; Pilgram, Lisa; Anton, Gabi; Berger, Sarah; Geisler, Ramsia; Haas, Kirsten; Illig, Thomas; Krefting, Dagmar; Lorbeer, Roberto; Mitrov, Lazar; Muenchhoff, Maximilian; Nauck, Matthias; Pley, Christina; Reese, Jens-Peter; Rieg, Siegbert; Scherer, Margarete; Stecher, Melanie; Stellbrink, Christoph; Valentin, Heike; Winter, Christof; Witzenrath, Martin; Vehreschild, J Janne

A rare case of right heart failure with the necessity for veno-arterial extracorporeal membrane oxygenation following pulmonary vein stenosis after radiofrequency ablation for atrial fibrillation

一例罕见的右心衰竭病例,患者在接受射频消融治疗房颤后出现肺静脉狭窄,需要进行静脉-动脉体外膜肺氧合(VA-ECMO)治疗。

Kopp, Sabrina; Tilch, Marie-Kristin; Sagoschen, Ingo; Kaes, Joachim; Kuniss, Malte; Neumann, Thomas; Yang, Yang; Schnitzler, Katharina; Schmidt, Kai-Helge; Rostock, Thomas; Münzel, Thomas; Konstantinides, Stavros; Wild, Johannes; Hobohm, Lukas