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

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 transport modality on time to endovascular thrombectomy : A population-based registry study in rural Sweden

交通方式对血管内血栓切除术时间的影响:一项基于瑞典农村地区人群登记的研究

Taxbro, Knut; Rashid, Avan Sabir; Skallsjö, Gabriel; Arnell, Per; Chevalley, Karl; Rentzos, Alexandros; Goselink, Rianne

Condition-Specific Growth Charts for Children With Alagille Syndrome

阿拉吉尔综合征患儿的特定生长曲线图

Huysentruyt, Koen; Vandriel, Shannon M; Roelants, Mathieu; Piccoli, David A; Loomes, Kathleen M; Rand, Elizabeth B; Ebel, Noelle H; Feinstein, Jeffrey A; Jankowska, Irena; Czubkowski, Piotr; Gliwicz-Miedzinska, Dorota; Gonzales, Emmanuel M; Jacquemin, Emmanuel; Bouligand, Jérôme; Karpen, Saul J; Romero, Rene; Lin, Henry C; Fischler, Björn; Arnell, Henrik; Li, Li-Ting; Wang, Jian-She; Fawaz, Rima; Nastasio, Silvia; Kim, Kyung Mo; Oh, Seak Hee; D'Antiga, Lorenzo; Nicastro, Emanuele; Fischer, Ryan T; Siew, Susan M; Stormon, Michael; Lertudomphonwanit, Chatmanee; Hardikar, Winita; Shankar, Sahana; Squires, James E; Sundaram, Shikha S; Larson-Nath, Catherine; Kelly, Deirdre A; Hartley, Jane; Bulut, Pinar; Jensen, M Kyle; Jaramillo, Catalina; Roberts, Amin J; Evans, Helen M; Sokal, Étienne M; Demaret, Tanguy; Verkade, Henkjan J; Thompson, Richard J; Hansen, Bettina E; Cole, Tim J; Kamath, Binita M; Debray, Dominique; Lacaille, Florence; Brecelj, Jernej; El-Koofy, Nehal M; Elmonem, Mohamed A; Lee, Way Seah; Sanchez, Maria Camila; Cavalieri, Maria Lorena; Hajinicolaou, Christina; Schwarz, Kathleen B; Carvalho, Elisa; Rock, Nathalie; Karnsakul, Wikrom; Quiros-Tejeira, Ruben E; Alam, Seema; Nebbia, Gabriella; Mozer-Glassberg, Yael; Valentino, Pamela L; Santos-Silva, Ermelinda; Önal, Zerrin; Dezsofi-Gottl, Antal; Melere, Melina; Legarda Tamara, María; Eshun, John; Zellos, Aglaia; Indolfi, Giuseppe; Rogalidou, Maria; Blondet, Niviann; Luigi Calvo, Pier; Beretta, Marisa; Zizzo, Andréanne N; Arikan, Cigdem; Kasahara, Mureo; Kerkar, Nanda; Aqul, Amal A; Wolters, Victorien M; Borges Pinto, Raquel; Quintero Bernabeu, Jesus; Garcia, Jennifer; Wiecek, Sabina; Tzivinikos, Christos; Mujawar, Quais; Jimenez-Rivera, Carolina; Molera Busoms, Cristina; Gonçalves, Cristina; Bujanda, Luis

Whole genome transcriptional analysis of intestinal biopsies and blood cells indicate genes involved in antioxidant defense systems, amino acid metabolism and antigen presentation in the pathogenesis of celiac disease

对肠道活检和血细胞进行全基因组转录分析表明,参与抗氧化防御系统、氨基酸代谢和抗原呈递的基因与乳糜泻的发病机制有关。

Torinsson Naluai, Åsa; Sabbag, Shafir; Abrahamsson, Sanna; Gudjónsdóttir, Audur H; Arnell, Henrik; Agardh, Daniel

Structural basis for collagen recognition by the Streptococcus pyogenes M3 protein and its involvement in biofilm

化脓性链球菌M3蛋白识别胶原蛋白的结构基础及其在生物膜形成中的作用

Wojnowska, Marta; Wajima, Takeaki; Yelland, Tamas; Ludewig, Hannes; Hagan, Robert M; McCurry, Olivia F; Watt, Grant; Hamaia, Samir W; Bihan, Dominique; Malcor, Jean-Daniel; Bonna, Arkadiusz; Bergsten, Helena; Palma Medina, Laura Marcela; Svensson, Mattias; Oppegaard, Oddvar; Skrede, Steinar; Arnell, Per; Hyldegaard, Ole; Farndale, Richard W; Norrby-Teglund, Anna; Schwarz-Linek, Ulrich

Use of Hyperbaric Oxygen in Patients with Necrotizing Soft Tissue Infections: A Scandinavian Multicenter, Prospective, Observational Cohort

高压氧治疗坏死性软组织感染患者的疗效:一项北欧多中心前瞻性观察队列研究

Hyldegaard, Ole; Nekludov, Michael; Arnell, Per; Nedrebø, Torbjørn; Karlsson, Ylva; Madsen, Martin Bruun; Skrede, Steinar; Dos Santos, Vitor Martins; Svensson, Mattias; Perner, Anders; Vinkel, Julie; Kjellberg, Anders; Rosén, Anders; Douglas, Johan; Bruun, Trond; Hardt, Christopher; Norrby-Teglund, Anna; Hedetoft, Morten

Phenotypic Divergence of JAG1- and NOTCH2-Associated Alagille Syndrome & Disease-Specific NOTCH2 Variant Classification Guidelines

JAG1 和 NOTCH2 相关阿拉吉尔综合征的表型差异及疾病特异性 NOTCH2 变异分类指南

Vandriel, Shannon M; Li, Li-Ting; She, Huiyu; Wang, Jian-She; Loomes, Kathleen M; Piccoli, David A; Jankowska, Irena; Czubkowski, Piotr; Gliwicz-Miedzińska, Dorota; D'Antiga, Lorenzo; Nicastro, Emanuele; Lacaille, Florence; Debray, Dominique; Sokal, Étienne M; Demaret, Tanguy; Fawaz, Rima L; Nastasio, Silvia; Kim, Kyung Mo; Oh, Seak Hee; Fischler, Björn; Arnell, Henrik; Larson-Nath, Catherine; Hardikar, Winita; Shankar, Sahana; Sundaram, Shikha S; Chaidez, Alexander; Bulut, Pinar; Calvo, Pier Luigi; Kasahara, Mureo; Blondet, Niviann; Lurz, Eberhard; Kavallar, Anna-Maria; Gonzales, Emmanuel M; Jacquemin, Emmanuel; Bouligand, Jérôme; Ebel, Noelle H; Feinstein, Jeffrey A; Siew, Susan M; Stormon, Michael O; Karpen, Saul J; Romero, Rene; Jensen, M Kyle; Jaramillo, Catalina; Squires, James E; Bedoyan, Sarah M; Kelly, Deirdre A; Hartley, Jane; Verkade, Henkjan J; Lee, Way Seah; Lertudomphonwanit, Chatmanee; Fischer, Ryan T; Lin, Henry C; Rock, Nathalie; Mozer-Glassberg, Yael; Roberts, Amin J; Evans, Helen M; Karnsakul, Wikrom; Nebbia, Gabriella; Wolters, Victorien M; Valentino, Pamela L; Bernabeu, Jesus Quintero; Aqul, Amal A; Arikan, Cigdem; Tamara, María Legarda; Busoms, Cristina Molera; Sandahl, Thomas Damgaard; Indolfi, Giuseppe; Zizzo, Andréanne N; Zellos, Aglaia; Quiros-Tejeira, Ruben E; Santos-Silva, Ermelinda; Schwarz, Kathleen B; Brecelj, Jernej; Sanchez, Maria Camila; Cavalieri, Maria Lorena; Tzivinikos, Christos; Wiecek, Sabina; Eshun, John; Kerkar, Nanda; Mujawar, Quais; Önal, Zerrin; Gonçalves, Cristina; Garcia, Jennifer; Alam, Seema; Jimenez-Rivera, Carolina; Bujanda, Luis; Thompson, Richard J; Hansen, Bettina E; Spinner, Nancy B; Gilbert, Melissa A; Kamath, Binita M

Elevated Serum Bile Acids Predict Poor Liver Outcomes in Children With Alagille Syndrome: Results From the GALA Study Group

血清胆汁酸水平升高预示阿拉吉勒综合征患儿肝脏预后不良:GALA研究组的结果

Perez, Carla Fiorella Murillo; Vandriel, Shannon M; Gonzales, Emmanuel M; Wang, Jian-She; Li, Li-Ting; She, Huiyu; Jankowska, Irena; Czubkowski, Piotr; Gliwicz-Miedzińska, Dorota; Jacquemin, Emmanuel; Bouligand, Jérôme; D'Antiga, Lorenzo; Nicastro, Emanuele; Fischler, Björn; Arnell, Henrik; Siew, Susan M; Stormon, Michael; Loomes, Kathleen M; Piccoli, David A; Rand, Elizabeth B; Squires, James E; Karpen, Saul J; Romero, Rene; Kasahara, Mureo; Önal, Zerrin; Sokal, Étienne; Demaret, Tanguy; Wiecek, Sabina; Lacaille, Florence; Debray, Dominique; Hardikar, Winita; Shankar, Sahana; Valentino, Pamela L; Sundaram, Shikha S; Ebel, Noelle H; Feinstein, Jeffrey A; Waisbourd-Zinman, Orith; Lin, Henry C; Rock, Nathalie; Verkade, Henkjan J; Jensen, M Kyle; Jaramillo, Catalina; Kim, Kyung Mo; Oh, Seak Hee; Brecemiclj, Jernej; Alam, Seema; Indolfi, Giuseppe; Blondet, Niviann; Fawaz, Rima; Nastasio, Silvia; Calvo, Pier Luigi; Nebbia, Gabriella; Arikan, Cigdem; Larson-Nath, Catherine; Zizzo, Andréanne N; Sandahl, Thomas Damgaard; Tzivinikos, Christos; El-Koofy, Nehal M; Elmonem, Mohamed A; Aqul, Amal A; Karnsakul, Wikrom; Bulut, Pinar; Kerkar, Nanda; Wolters, Victorien M; Roberts, Amin J; Evans, Helen M; Sanchez, Maria Camila; Cavalieri, Maria Lorena; Kelly, Deirdre A; Hartley, Jane; Lee, Way Seah; Hajinicolaou, Christina; Lertudomphonwanit, Chatmanee; Fischer, Ryan T; Bernabeu, Jesus Quintero; Quiros-Tejeira, Ruben E; Ferreira, Cristina Targa; Carvalho, Elisa; Eshun, John; Zellos, Aglaia; Dezsőfi, Antal; Pinto, Raquel Borges; Schwarz, Kathleen; Rogalidou, Maria; Garcia, Jennifer; Tamara, María Legarda; Beretta, Marisa; Mujawar, Quais; Santos-Silva, Ermelinda; Busoms, Cristina Molera; Lurz, Eberhard; Gonçalves, Cristina; Jimenez-Rivera, Carolina; Banales, Jesus M; Thompson, Richard J; Hansen, Bettina E; Kamath, Binita M

LIFE: A metric for mapping the impact of land-cover change on global extinctions

LIFE:一种用于绘制土地覆盖变化对全球物种灭绝影响的指标

Eyres, Alison; Ball, Thomas S; Dales, Michael; Swinfield, Tom; Arnell, Andy; Baisero, Daniele; Durán, América Paz; Green, Jonathan M H; Green, Rhys E; Madhavapeddy, Anil; Balmford, Andrew

One-year follow-up of a short specific carbohydrate diet intervention in children with juvenile idiopathic arthritis: A retrospectively controlled study with focus on medical burden

一项针对幼年特发性关节炎患儿的短期特定碳水化合物饮食干预的一年随访研究:一项回顾性对照研究,重点关注医疗负担

Hagström, Naima; Öman, Anders; Koochek, Afsaneh; Arnell, Henrik; Berntson, Lillemor