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

Genome sequencing in a cohort of 32 fetuses with genetic skeletal disorders

对32例患有遗传性骨骼疾病的胎儿进行基因组测序

Lindelöf, Hillevi; Hammarsjö, Anna; Voss, Ulrika; Gaetana Piticchio, Serena; Conner, Peter; Papadogiannakis, Nikos; Batkovskyte, Dominyka; Orellana, Laura; Kvarnung, Malin; Malmgren, Helena; Lagerstedt Robinson, Kristina; Nordgren, Ann; Lindstrand, Anna; Nishimura, Gen; Grigelioniene, Giedre

Chronic lung allograft dysfunction after lung transplantation: prevention, diagnosis and treatment in 44 European centres

肺移植术后慢性肺移植功能障碍:44个欧洲中心的预防、诊断和治疗

Gottlieb, Jens; Vos, Robin; Jaksch, Peter; Hellemons, Merel; Holm, Are Martin; Morlacchi, Letizia Corinna; Magnusson, Jesper; Alonso Moralejo, Rodrigo; Mora-Cuesta, Víctor M; Ennekes, Vera; Reed, Anna; Merveilleux Du Vignaux, Claire; Hettich, Ina; Bennett, David; Hecker, Matthias; Wald, Alexandra; Guk, Svitlana; Skride, Andris; Nolde, Anna; Knoop, Christiane; Meloni, Federica; Tikkanen, Jussi; Larsson, Hillevi; Tissot, Adrien; Riddell, Peter; Le Pavec, Jérôme; Perch, Michael; Renaud-Picard, Benjamin; Carlier, François M; Müller, Veronika; Parmar, Jasvir; Havlin, Jan; Laporta, Rosalía; Schuurmans, Macé Matthew; Harlander, Matevž; Zenglen, Slavomir; Brugiere, Olivier; Kneidinger, Nikolaus; Fisher, Andrew; Saez-Gimenez, Berta

Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting

在临床环境下,采用外显子组和基因组测序对1000例三联体分析进行诊断的产出率

Malmgren, Helena; Kvarnung, Malin; Gustafsson, Peter; Anderlid, Britt-Marie; Arthur, Cecilia; Carlsten, Jonas; De Geer, Karl; Ehn, Emma; Grigelioniené, Giedre; Hammarsjö, Anna; Helgadottir, Hafdis T; Hellström-Pigg, Maritta; Iwarsson, Erik; Kuchinskaya, Ekaterina; Lindelöf, Hillevi; Mannila, Maria; Nilsson, Daniel; Pettersson, Maria; Rudd, Eva; Sahlin, Ellika; Tesi, Bianca; Tham, Emma; Thonberg, Håkan; Westenius, Eini; Winberg, Johanna; Winerdal, Max; Nordenskjöld, Magnus; Johansson-Soller, Maria; Wirta, Valtteri; Nordgren, Ann; Lindstrand, Anna; Lagerstedt-Robinson, Kristina

Compound heterozygosity for two variants in BMP5 in human skeletal dysostosis with atrioventricular septal defect

人类骨骼发育不良伴房室间隔缺损中BMP5基因两个变异的复合杂合性。

Gregersen, Pernille Axél; Hammarsjö, Anna; Graversen, Lise; Brix, Nis; Lindelöf, Hillevi; Jensen, Uffe Birk; Farholt, Stense; Rubak, Sune; Bjerre, Jesper; Piticchio, Serena G; Terkelsen, Thorkild; Nishimura, Gen; Hellfritzsch, Michel Bach; Grigelioniene, Giedre

Fungal colonization before or after lung transplantation has no negative impact on survival or the development of chronic lung allograft dysfunction

肺移植术前或术后的真菌定植对患者的生存率或慢性肺移植功能障碍的发生没有负面影响。

Bodén, Embla; Sveréus, Fanny; Niroomand, Anna; Akbarshahi, Hamid; Ingemansson, Richard; Larsson, Hillevi; Lindstedt, Sandra; Olm, Franziska

Quality of cognitive-behavioural therapy in routine psychiatric care: therapist adherence and competence, and patient outcomes for depression and anxiety disorders

认知行为疗法在常规精神科护理中的质量:治疗师的依从性和能力,以及抑郁症和焦虑症患者的治疗结果

Bergvall, Hillevi; Linde, Johanna; Alfonsson, Sven; Sunnhed, Rikard; Barber, Jacques P; Lundgren, Tobias; Andersson, Gerhard; Bohman, Benjamin

Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13

RPL13相关脊椎骨骺干骺端发育不良的临床、遗传和结构描述表明eL13具有核糖体外功能

Jacob, Prince; Lindelöf, Hillevi; Rustad, Cecilie F; Sutton, Vernon Reid; Moosa, Shahida; Udupa, Prajna; Hammarsjö, Anna; Bhavani, Gandham SriLakshmi; Batkovskyte, Dominyka; Tveten, Kristian; Dalal, Ashwin; Horemuzova, Eva; Nordgren, Ann; Tham, Emma; Shah, Hitesh; Merckoll, Else; Orellana, Laura; Nishimura, Gen; Girisha, Katta M; Grigelioniene, Giedre

Perceived effects of the COVID-19 pandemic on clinical psychology internships in Sweden

瑞典新冠疫情对临床心理学实习的影响

Bergvall, Hillevi; Larsson, Cornelia; Strålin, Elinor Eskilsson; Bohman, Benjamin; Alfonsson, Sven

Investigating survival, quality of life and cognition in PROton versus photon therapy for IDH-mutated diffuse grade 2 and 3 GLIOmas (PRO-GLIO): a randomised controlled trial in Norway and Sweden

一项在挪威和瑞典开展的随机对照试验(PRO-GLIO),旨在研究质子疗法与光子疗法治疗IDH突变型弥漫性2级和3级胶质瘤的生存率、生活质量和认知功能。

Heggebø, Liv Cathrine; Borgen, Ida Maria Henriksen; Rylander, Hillevi; Kiserud, Cecilie; Nordenmark, Tonje Haug; Hellebust, Taran Paulsen; Evensen, Morten Egeberg; Gustavsson, Magnus; Ramberg, Christina; Sprauten, Mette; Magelssen, Henriette; Blakstad, Hanne; Moorthy, Janani; Andersson, Karin; Raunert, Ingela; Henry, Thomas; Moe, Cecilie; Granlund, Carin; Goplen, Dorota; Brekke, Jorunn; Johannessen, Tor-Christian Aase; Solheim, Tora Skeidsvoll; Marienhagen, Kirsten; Humberset, Øyvind; Bergström, Per; Agrup, Måns; Dahl, Ludvig; Gubanski, Michael; Gojon, Helene; Brahme, Carl-Johan; Rydén, Isabelle; Jakola, Asgeir S; Vik-Mo, Einar O; Lie, Hanne C; Asphaug, Lars; Hervani, Maziar; Kristensen, Ingrid; Rueegg, Corina Silvia; Olsen, Inge C; Ledal, Rolf J; Degsell, Eskil; Werlenius, Katja; Blomstrand, Malin; Brandal, Petter