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

Exploring thyroid function in main domestic ruminants: a scoping review of physio-anatomy, diseases and diagnostic tools

探索主要家养反刍动物的甲状腺功能:生理解剖、疾病和诊断工具的范围综述

Eppe, Justine; Petrossians, Patrick; Rollin, Frédéric; Vandenput, Sandrina; Guyot, Hugues

Immunohistochemical Analysis of Potential Therapeutic Targets PRAME, FOLR1, and CLDN18.2 in Salivary Gland Carcinomas

唾液腺癌中潜在治疗靶点PRAME、FOLR1和CLDN18.2的免疫组织化学分析

Brust, Lukas A; Kühn, Jan Philipp; Körner, Sandrina; Knebel, Moritz; Braun, Felix L; Zeidan, Philippe; Wemmert, Silke; Schick, Bernhard; Smola, Sigrun; Wagner, Mathias; Ertz, Martin; Linxweiler, Maximilian

Experiences and needs of patients facing incurable cancer and their relatives with informal care in psychosocial supporting centres in the Netherlands: A qualitative study

荷兰心理社会支持中心中,面临不治之症癌症患者及其家属在非正式照护方面的经历和需求:一项定性研究

Siemelink, Suzanne D; van Koeveringe, Julia; Bussmann, Monique; van Veen, Saskia; Sangers, Sandrina; Raijmakers, Natasja J H

Alpha-synuclein misfolding as fluid biomarker for Parkinson's disease measured with the iRS platform.

利用 iRS 平台测量 α-突触核蛋白错误折叠作为帕金森病液体生物标志物

Schuler Martin, Gerwert Grischa, Mann Marvin, Woitzik Nathalie, Langenhoff Lennart, Hubert Diana, Duman Deniz, Höveler Adrian, Galkowski Sandy, Simon Jonas, Denz Robin, Weber Sandrina, Kwon Eun-Hae, Wanka Robin, Kötting Carsten, Güldenhaupt Jörn, Beyer Léon, Tönges Lars, Mollenhauer Brit, Gerwert Klaus

Development of a simplified smell test to identify Parkinson's disease using multiple cohorts, machine learning and item response theory

利用多队列研究、机器学习和项目反应理论开发一种简化的嗅觉测试来识别帕金森病

Li, Juan; Grimes, Kelsey; Saade, Joseph; Tomlinson, Julianna J; Mestre, Tiago A; Schade, Sebastian; Weber, Sandrina; Dakna, Mohammed; Wicke, Tamara; Lang, Elisabeth; Trenkwalder, Claudia; Salmaso, Natalina; Frank, Andrew; Ramsay, Tim; Manuel, Douglas; Mollenhauer, Brit; Schlossmacher, Michael G

Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome associated with alteration of metabolic signaling

TMEM184B 的致病性变异会导致一种与代谢信号改变相关的神经发育综合征。

Chapman, Kimberly A; Ullah, Farid; Yahiku, Zachary A; Khan, Sheraz; Kodiparthi, Sri Varsha; Kellaris, Georgios; White, Hazel G; Powell, Andrew T; Correia, Sandrina P; Stödberg, Tommy; Sofocleous, Christalena; Marinakis, Nikolaos M; Fryssira, Helena; Tsoutsou, Eirini; Traeger-Synodinos, Jan; Accogli, Andrea; Sciruicchio, Vittorio; Salpietro, Vincenzo; Striano, Pasquale; Muss, Candace; Keren, Boris; Heron, Delphine; Berger, Seth I; Pond, Kelvin W; Sirimulla, Suman; Davis, Erica E; Bhattacharya, Martha R C

Age-associated metabolic and epigenetic barriers during direct reprogramming of mouse fibroblasts into induced cardiomyocytes

小鼠成纤维细胞直接重编程为诱导心肌细胞过程中与年龄相关的代谢和表观遗传障碍

Francisco Santos, Magda Correia, Rafaela Dias, Bárbara Bola, Roberta Noberini, Rita S Ferreira, Diogo Trigo, Pedro Domingues, José Teixeira, Tiziana Bonaldi, Paulo J Oliveira, Christian Bär, Bruno Bernardes de Jesus, Sandrina Nóbrega-Pereira

A Novel α-Synuclein K58N Missense Variant in a Patient with Parkinson's Disease

帕金森病患者体内发现一种新的α-突触核蛋白K58N错义变异

Al-Azzani, Mohammed; Weber, Sandrina; Ramalingam, Nagendran; Ramón, Maria; Shvachiy, Liana; Mestre, Gonçalo; Zech, Michael; Sicking, Kevin; de Opakua, Alain Ibáñez; Jayanthi, Vidyashree; Amaral, Leslie; Agarwal, Aishwarya; Chandran, Aswathy; Chaves, Susana R; Winkelmann, Juliane; Trenkwalder, Claudia; Schwager, Maike; Pauli, Silke; Dettmer, Ulf; Fernández, Claudio O; Lautenschläger, Janin; Zweckstetter, Markus; Fernandez-Busnadiego, Ruben; Mollenhauer, Brit; Outeiro, Tiago Fleming

The spinal premotor network driving scratching flexor and extensor alternation.

脊髓前运动网络驱动抓挠动作中的屈肌和伸肌交替运动

Yao Mingchen, Nagamori Akira, Campos Maçãs Sandrina, Azim Eiman, Sharpee Tatyana, Goulding Martyn, Golomb David, Gatto Graziana