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

Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy

RNU2-2基因的双等位基因变异会导致一种非常常见的发育性和癫痫性脑病。

Jackson, Adam; Blakes, Alexander J M; Alhaddad, Bader; Henry, Olivia J; Delgado-Vega, Angelica M; Wall, Elizabeth; Abdelhadi, Ola; Agrawal, Shakti; Bakur, Khadijah; Blair, Edward; Brady, Angela F; Brittain, Helen; Chandler, Kate E; Clarke, Natasha; Danelli, Miriana; Drinkall, Nicholas; Duba, Irene; Elmslie, Frances; Ellingford, Jamie; Ewans, Lisa J; Fennell, Andrew P; Gazdagh, Gabriella; Heller, Simon P; Hammarsjö, Anna; Karrman, Kristina; Kini, Usha; Lesko, Nicole; Lindstrand, Anna; Macintosh, Rebecca; Mansour, Sahar; Menzies, Lara; Metcalfe, Kay; Milhench, Alison; Nashef, Lina; O'Keefe, Raymond T; Pacheco, Nadja Pekkola; Palmer, Elizabeth E; Parida, Amitav; Prescott, Katrina; Redman, Melody; Renieri, Alessandra; Fallerini, Chiara; Rizzo, Caterina Lo; Sachdev, Rani; Simons, Cas; Sisodiya, Sanjay M; Stewart, Helen; Stödberg, Tommy; Banos-Pinero, Benito; Taylan, Fulya; Thomas, Huw B; Tinella, Flavia; Wiafe, Samuel; Wedell, Anna; Whiffin, Nicola; Walker, Susan; Rius, Rocio; Chae, Jong Hee; Nordgren, Ann; Alkuraya, Fowzan; Lord, Jenny; Banka, Siddharth

A Molecular Machine Directs the Synthesis of a Rotaxane

分子机器指导轮烷的合成

Kluifhooft, Robert; Wachsmuth, Tommy; Barthel, Bob; Müller, Mira; Rückert, Ann-Kathrin; Kathan, Michael

Highly Resolved Community Sewage Metagenomics Unveiling Landscape and Transmission Patterns of Antibiotic Resistome in Hong Kong Populations

高分辨率社区污水宏基因组学揭示香港人群抗生素耐药组的分布格局和传播模式

Ding, Jiahui; Wang, Mengying; Xu, Xiaoqing; Wang, Dou; Chen, Xi; Li, Shuxian; Zheng, Xiawan; Che, You; Deng, Yu; Lam, Tommy T Y; Li, Liguan; Zhang, Tong

The genomic medicine center Karolinska 10-year report on genome sequencing for rare diseases and a strategy for stepwise clinical implementation

卡罗林斯卡基因组医学中心关于罕见病基因组测序的十年报告及分阶段临床实施策略

Lindstrand, Anna; Lagerstedt-Robinson, Kristina; Jemt, Anders; Kvarnung, Malin; Ygberg, Sofia; Vonlanthen, Sofie; Oscarson, Mikael; Nilsson, Daniel; Lesko, Nicole; Mantero, Angelo Salazar; Anderlid, Britt-Marie; Arnell, Henrik; Arthur, Cecilia; Bajalica-Lagercrantz, Svetlana; Barbaro, Michela; Bergman, Peter; Björck, Erik; Picard, Oda Blomqvist; Bruhn, Helene; Carlsten, Jonas; Correia, Sandrina P; De Geer, Karl; Delgado Vega, Angelica M; Ehn, Emma; Eisfeldt, Jesper; Ek, Marlene; Elvers, Ingegerd; Engvall, Martin; Freyer, Christoph; Frisk, Sofia; Graff, Caroline; Grigelioniené, Giedré; Gustafsson, Peter; Hammarsjö, Anna; Helgadottir, Hafdis T; Hellström Pigg, Maritta; Henry, Olivia J; Hägglund, Moa; Iwarsson, Erik; Janvid, Vincent; Soller, Maria Johansson; Sundin, Leif; Kuchinskaya, Ekaterina; Kämpe, Anders; Leinfelt, Anna; Liedén, Agne; Lindelöf, Hillevi; Lyander, Anna; Malmgren, Helena; Mannila, Maria; Marits, Per; Naess, Karin; Neethiraj, Ramprasad; Nyren, Karl; Pappas, Christoforos; Paucar, Martin; Pekkola Pacheco, Nadja; Peña Perez, Lucia; Pettersson, Maria; Pruisscher, Peter; Rasi, Chiara; Renevey, Annick; Rössner, Sophia; Sahlin, Ellika; Stenund, Erik; Stödberg, Tommy; Sundin, Mikael; Svärd, Karl; Tesi, Bianca; Tham, Emma; Thonberg, Håkan; Töhönen, Virpi; Ueberschär, Malin; Wallander, Karin; Westenius, Eini; Winberg, Johanna; Winblad, Nerges; Wincent, Josephine; Winerdal, Malin; Wredenberg, Anna; Zetterlund, Anna; Zetterström, Rolf H; Öfverholm, Ingegerd; Nordgren, Ann; Stranneheim, Henrik; Wirta, Valtteri; Wedell, Anna

Impact of an exercise and nutrition program on caregiver time with residents in institutional care-A secondary analysis

运动和营养计划对护理人员陪伴机构居民时间的影响——一项二次分析

Wimo, Anders; Cederholm, Tommy; Irving, Gerd Faxén; Franzén, Erika; Grönstedt, Helena; Seiger, Åke; Vikström, Sofia; Boström, Anne-Marie

Thromboxane signalling links immune activation to enhanced glucose uptake in skeletal muscle

血栓素信号传导将免疫激活与骨骼肌葡萄糖摄取增强联系起来

Abdelmoez, Ahmed M; Jollet, Maxence; Yu, Xue; Rizo-Roca, David; Marica, Alesandra A; Ortiz de Zevallos, Joaquin; Dollet, Lucile; Borg, Melissa L; Björnholm, Marie; Checa, Antonio; Olsson, Tommy; Otten, Julia; Zierath, Juleen R; Krook, Anna; Schwartz, Thue W; Chibalin, Alexander V; Pillon, Nicolas J

HCT Frailty Scale (HCT-FS) for assessing frailty in adult candidates for allogeneic haematopoietic cell transplantation: an international prospective, observational cohort study

HCT衰弱量表(HCT-FS)用于评估异基因造血干细胞移植成年候选者的衰弱程度:一项国际前瞻性观察队列研究

Salas, María Queralt; Alfaro Moya, Tommy; Pasic, Ivan; Baile González, Mónica; Gómez, Marina Acera; Fox, Laura; Pérez Artigas, María Del Mar; Santamaría, Ana; Quintela González, María Del Carmen; Sánchez Salinas, Andrés; Salmerón Camacho, Joaquina M; Illana Álvaro, Verónica; Abdallahi-Lefdil, Zahra; Navascues, Javier Cornago; Pardo, Laura; Fernández-Luis, Sara; Vega Suárez, Leddy Patricia; Villar, Sara; Beorlegui-Murillo, Patricia; Esquirol, Albert; Izquierdo García, Isabel; Mussetti, Alberto; Lavilla, Esperanza; Lopez-Marín, Javier; Filaferro, Silvia; Balsalobre, Pascual; Bento, Leyre; Law, Arjun; Viswabandya, Auro; Michelis, Fotios V; Mattsson, Jonas; Alibhai, Shabbir; Rovira, Montserrat; Wang Kim, Dennis Dong; Sureda, Anna; Kumar, Rajat

Conservation and environmental management reimagined: Toward anti-oppressive futures

重新构想保护和环境管理:迈向反压迫的未来

German, Laura; Abrams, Jesse; Struthers, Cory L; Pictou, Sherry; Woodson, C Brock; Kumar, Suneel; Cabe, Tommy; Merino, Roger; King, Elizabeth

ctDNA monitoring using tumor-informed copy number analysis

利用肿瘤信息拷贝数分析进行ctDNA监测

Zhou, Ze; Cutts, Ros; Hrebien, Sarah; Zhang, Christina X; Garcia-Murillas, Isaac; Zhang, Woody Z; Frankell, Alexander M; Cooper, Wendy N; Roshan, Amit; Turner, Nicholas C; Kaplan, Tommy; Rosenfeld, Nitzan; Zhao, Hui

Domestication-Admixed Atlantic Salmon (Salmo salar) Establish a Productive Population in the Wild

驯化杂交的大西洋鲑鱼(Salmo salar)在野外建立了高产种群

Harvey, Alison C; Skaala, Øystein; Besnier, Francois; Østebø, Britt Iren; Sørvik, Anne Grete; Fjeldheim, Per Tommy; Unneland, Laila; Brieuc, Marine S O; Ayllon, Fernando; Utne, Kjell R; Solberg, Monica F; Glover, Kevin A