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

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes

非编码RNA基因RNU4-2的双等位基因变异会导致一种隐性遗传的神经发育综合征,并伴有明显的白质改变。

Rius, Rocio; Blakes, Alexander J M; Chen, Yuyang; De Jonghe, Joachim; Lecoquierre, François; Dawes, Ruebena; Cogne, Benjamin; Kim, Hyung Chul; Alvi, Javeria R; Amblard, Florence; Ansari, Morad; Arlt, Annabelle; Austin-Tse, Christina; Baer, Sarah; Balasubramanian, Meena; Balton, Elsa V; Barcia, Giulia; Beleza-Meireles, Ana; Bernstein, Jonathan A; Beygo, Jasmin; Blanc, Pierre; Bramswig, Nuria C; Braun, Frederik; Buchzik, Daniel; Calame, Daniel G; Campbell, Jamie; Coutton, Charles; Cunningham, Chloe A; Dargie, Nitsuh; Depienne, Christel; Dipple, Katrina M; Dieux, Anne; Dixit, Abhijit; Dreyer, Lauren; Du, Haowei; El Chehadeh, Salima; Field, Michael; Ewans, Lisa J; Geiger, Vanessa; Gibbs, Richard A; Glass, Ian; Grunewald, Olivier; Gueguen, Paul; Haack, Tobias B; Hadj Abdallah, Hamza; Harbuz, Radu; Helbig, Ingo; Horvath, Judit; Hustinx, Alexander; Isidor, Bertrand; Jacquemont, Marie-Line; Jamie, Fraser; Jeanne, Médéric; Kessler, Riley; Klinkhammer, Hannah; Korenke, G Christoph; Kotzaeridou, Urania; Krawitz, Peter; Laurie, Steven; Leventer, Richard J; Levy, Rebecca J; Lupski, James R; Marijon, Pierre; McGinnis, Kaitlin E; Mendez, Rodrigo; Messaoud, Olfa; Nava, Caroline; Nizard, Mevyn; O'Donnell-Luria, Anne; O'Leary, Melanie C; Olivieri, Simone; Parida, Amitav; Pehlivan, Davut; Prentice, Anna Jenne; Posey, Jennifer E; Reuter, Chloe M; Satre, Véronique; Schluth-Bolard, Caroline; Smol, Thomas; Sultan, Tipu; Taylor, John; Thauvin-Robinetvin, Christel; Thevenon, Julien; Uebergang, Eloise; Ueberberg, Sandra; Vincent-Delorme, Catherine; Wassmer, Evangeline; Westwood, Emma; Wheeler, Matthew T; Gulec, Elif Yilmaz; Vanderver, Adeline; Vossough, Arastoo; Sanders, Stephan J; Banka, Siddharth; Findlay, Gregory M; MacArthur, Daniel G; Simons, Cas; Whiffin, Nicola

Targeted BDNF upregulation via upstream open reading frame disruption

通过上游开放阅读框破坏靶向上调BDNF

Feng, Ning; Goedert, Thomas; Svrzikapa, Nenad; Yan, Dongnan; Friedrichsen, Hans J; Hanson, Britt; Ljungdahl, Alicia; Dafinca, Ruxandra; Talbot, Kevin; Sanders, Stephan J; Gupta, Dhanu; Wood, Mathew J A; Roberts, Thomas C

A genome- and phenome-wide association study of plasma procalcitonin concentrations in individuals of European ancestry

一项针对欧洲血统个体血浆降钙素原浓度的全基因组和全表型关联研究

Zhang, Wenbo; van der Most, Peter J; Wang, Siqi; Kamali, Zoha; Giontella, Alice; Enhörning, Sofia; Gansevoort, Ron T; van der Harst, Pim; Bakker, Stephan J L; Melander, Olle; Keus, Frederik; Lunter, Gerton; Snieder, Harold

Pre- and post-diagnosis signalling lipid profiles in heart failure with preserved ejection fraction: a prospective cohort study

诊断前后信号脂质谱在射血分数保留型心力衰竭中的体现:一项前瞻性队列研究

Zhang, Lu; Szili-Torok, Tamas; Lamont, Lieke; Kindt, Alida; Harms, Amy; Bakker, Stephan J L; Gansevoort, Ron; de Borst, Martin H; Hankemeier, Thomas

Impact of Etiology on Mortality and Recovery in Patients With Status Epilepticus

病因对癫痫持续状态患者死亡率和康复的影响

De Stefano, Pia; Baumann, Sira Maria; Fisch, Urs; Grzonka, Pascale Susanne; Rochat, Tommaso; De Marchis, Gian Marco; Dittrich, Tolga Daniel; Hunziker, Sabina; Rüegg, Stephan J; Kleinschmidt, Andreas; Quintard, Hervé; Seeck, Margitta; Sutter, Raoul

Inkube: an all-in-one solution for neuron culturing, electrophysiology, and fluidic exchange

Inkube:集神经元培养、电生理和流体交换于一体的解决方案

Benedikt Maurer,Selina Fassbind,Tobias Ruff,Jens Duru,Giusy Spacone,Theo Rodde,János Vörös,Stephan J Ihle

Interaction between HLA-B leader peptide variants and cytomegalovirus serostatus is associated with early T cell-mediated rejection in kidney transplantation

HLA-B前导肽变体与巨细胞病毒血清状态之间的相互作用与肾移植早期T细胞介导的排斥反应相关。

Peereboom, Emma T M; Jonker, Jip; Geneugelijk, Kirsten; van Zuilen, Arjan D; Bungener, Laura B; Verduyn Lunel, Frans M; Sanders, Jan Stephan F; Bakker, Stephan J L; Spierings, Eric

pH-Dependent Microenvironmental Ionic Signaling in Pancreatic Ductal Adenocarcinoma

胰腺导管腺癌中pH依赖性微环境离子信号传导

Schwab, Albrecht; Rugi, Micol; Swietach, Pawel; Błaszczak, Wiktoria; Novak, Ivana; Deshar, Ganga; Pedersen, Stine Falsig; Ialchina, Renata; Sandelin, Albin; Yao, Jiayi; Reshkin, Stephan J; Cardone, Rosa A; Carvalho, Tiago M A; Arcangeli, Annarosa; Bouazzi, Rayhana; D'Alessandro, Franco N; Prevarskaya, Natalia; Audero, Madelaine M; Ouadid-Ahidouch, Halima; Schnipper, Julie; Pardo, Luis A; Shi, Xiaoyi; Alves, Frauke; Mitręga, Jakub; Trauzold, Anna; Hagelund, Sofie E; Panyi, György; Cozzolino, Marco; Löwik, Clemens M W G; Mezzanotte, Laura; McMorrow, Roisin; Pahl, Andreas; Hechler, Torsten; Papacharisi, Elena; Pla, Alessandra Fiorio; Szabo, Ildiko; Hofschröer, Verena; Pethő, Zoltán

Phenotyping of Fontan-Associated Renal Physiology and Disease

Fontan相关肾脏生理和疾病的表型分析

van Hassel, Gaston; Ter Maaten, Jozine M; Beldhuis, Iris E; Liem, Eryn T; Zwart, Bastiaan; Bakker, Stephan J L; Berger, Rolf M F; van Melle, Joost P

Thyroid Function and All-cause Mortality in the Context of Multimorbidity: Results From 2 Population-based Studies

甲状腺功能与多种疾病合并症患者的全因死亡率:两项基于人群的研究结果

Xu, Yanning; Licher, Silvan; Visser, W Edward; Bakker, Stephan J L; Peeters, Robin P; Dullaart, Robin P F; Chaker, Layal