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

Novel Clinical Insights From a Swedish RFC1 Spectrum Disorder Cohort

来自瑞典RFC1谱系障碍队列研究的新临床见解

Alm, Victor; Säll, Linda; Samuelsson, Kristin; Press, Rayomand; Arnardottir, Snjolaug; Lindstrand, Anna; Niemelä, Valter; Terinte, Lilia; Nordin, Frida; Svenningsson, Per; Nilsson, Daniel; Verrecchia, Luca; Paucar, Martin

3D-printed syringe holder with synchronized push-pull action

具有同步推拉动作的3D打印注射器支架

Nilsson, Daniel P G; Andersson, Magnus

Drug resistant epilepsy driven by RHEB gene variants - Current evidence and a novel report of a paedatric case

由RHEB基因变异驱动的耐药性癫痫——最新证据及一例儿科病例报告

Esserlind, Ann-Louise; Pedersen, Annie; Abel, Frida; Hallbook, Tove; Reilly, Colin; Nilsson, Daniel; Liakina, Tatjana; Bontell, Thomas Olsson

Nordic survey on practice of neurosurgical management of craniopharyngioma in children

北欧儿童颅咽管瘤神经外科治疗实践调查

Frič, Radek; Tran, Anh-Thu Nora; Due-Tønnessen, Bernt Johan; Nilsson, Daniel; Foss-Skiftesvik, Jon

Nallo: a Nextflow pipeline for comprehensive human long-read genome analysis

Nallo:用于全面分析人类长读长基因组的 Nextflow 流程

Lenner, Felix; Jemt, Anders; Peña Pérez, Lucia; Neethiraj, Ramprasad; Pruisscher, Peter; Schmitz, Daniel; Renevey, Annick; Corcoran, Pádraic; Nilsson, Daniel; Eisfeldt, Jesper; Lindstrand, Anna; Wirta, Valtteri; Ameur, Adam; Feuk, Lars

Comprehensive characterization and targeted treatment of a pediatric epithelioid glioblastoma with a rare TRIM24-NTRK2 fusion

对一例罕见的TRIM24-NTRK2融合基因的儿童上皮样胶质母细胞瘤进行全面表征和靶向治疗

Keane, Simon; Sjöberg, Ida; Deland, Lily; Lindlöf, Angelica; Bontell, Thomas Olsson; Kling, Teresia; Blomstrand, Malin; Fagman, Henrik; Nilsson, Jonas A; Nilsson, Daniel; Sabel, Magnus; Carén, Helena; Abel, Frida

The ZFHX3 GGC Repeat Expansion Underlying Spinocerebellar Ataxia Type 4 has a Common Ancestral Founder

ZFHX3 GGC 重复序列扩增是 4 型脊髓小脑性共济失调的根本原因,它具有共同的祖先。

Chen, Zhongbo; Alvarez Jerez, Pilar; Anderson, Claire; Paucar, Martin; Lee, Jasmaine; Nilsson, Daniel; Macpherson, Hannah; Scardamaglia, Annarita; Montgomery, Kylie; Hardy, John; Singleton, Andrew B; Tucci, Arianna; Mathews, Katherine D; Fu, Ying-Hui; Engvall, Martin; Laffita-Mesa, José; Nennesmo, Inger; Wedell, Anna; Ptáček, Louis J; Blauwendraat, Cornelis; Gustavsson, Emil K; Svenningsson, Per; Ryten, Mina; Houlden, Henry

3D-printed temperature and shear stress-controlled rocker platform for enhanced biofilm incubation

用于增强生物膜培养的3D打印温度和剪切应力控制摇摆平台

Nilsson, Daniel P G; Wiklund, Krister; Malyshev, Dmitry; Andersson, Magnus

Attention-driven UNet enhancement for accurate segmentation of bacterial spore outgrowth in microscopy images

基于注意力机制的UNet增强算法可用于显微图像中细菌孢子生长区域的精确分割

Qamar, Saqib; Malyshev, Dmitry; Öberg, Rasmus; Nilsson, Daniel P G; Andersson, Magnus