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

Effects of interventions for self-harm in children and adolescents: a systematic review and meta-analysis

儿童和青少年自残干预措施的效果:系统评价和荟萃分析

Johansson, Björn Axel; Wilbe Ramsay, Karin; Pettersson, Agneta; Bjureberg, Johan

Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions

古斯塔夫森综合征是由 RBMX 中的框内缺失引起的,与可能受到干扰的 SH3 域相互作用有关

Josefin Johansson, Sarah Lidéus, Carina Frykholm, Cecilia Gunnarsson, Filip Mihalic, Sanna Gudmundsson, Sara Ekvall, Anna-Maja Molin, Mai Pham, Mauno Vihinen, Kristina Lagerstedt-Robinson, Ann Nordgren, Per Jemth, Adam Ameur, Göran Annerén, Maria Wilbe, Marie-Louise Bondeson2

A novel quantitative targeted analysis of X-chromosome inactivation (XCI) using nanopore sequencing

利用纳米孔测序对 X 染色体失活 (XCI) 进行新的定量靶向分析

Josefin Johansson, Sarah Lidéus, Ida Höijer, Adam Ameur, Sanna Gudmundsson, Göran Annerén, Marie-Louise Bondeson, Maria Wilbe

Loss of Nexilin function leads to a recessive lethal fetal cardiomyopathy characterized by cardiomegaly and endocardial fibroelastosis

Nexilin功能丧失会导致一种隐性致死性胎儿心肌病,其特征是心肌肥大和心内膜弹力纤维增生。

Johansson, Josefin; Frykholm, Carina; Ericson, Katharina; Kazamia, Kalliopi; Lindberg, Amanda; Mulaiese, Nancy; Falck, Geir; Gustafsson, Per-Erik; Lidéus, Sarah; Gudmundsson, Sanna; Ameur, Adam; Bondeson, Marie-Louise; Wilbe, Maria

Experiences of eating disorders from the perspectives of patients, family members and health care professionals: a meta-review of qualitative evidence syntheses

从患者、家属和医疗保健专业人员的角度看饮食障碍的经历:一项定性证据综合的荟萃分析

Gustafsson, Sanna Aila; Stenström, Karin; Olofsson, Hanna; Pettersson, Agneta; Wilbe Ramsay, Karin

Effectiveness of specialized rehabilitation after mild traumatic brain injury: A systematic review and meta-analysis

轻度脑外伤后专业康复的有效性:系统评价和荟萃分析

Möller, Marika C; Lexell, Jan; Wilbe Ramsay, Karin

Amplification-free long-read sequencing reveals unforeseen CRISPR-Cas9 off-target activity

无扩增长读测序揭示了不可预见的 CRISPR-Cas9 脱靶活性

Ida Höijer, Josefin Johansson, Sanna Gudmundsson, Chen-Shan Chin, Ignas Bunikis, Susana Häggqvist, Anastasia Emmanouilidou, Maria Wilbe, Marcel den Hoed, Marie-Louise Bondeson, Lars Feuk, Ulf Gyllensten, Adam Ameur

A rare regulatory variant in the MEF2D gene affects gene regulation and splicing and is associated with a SLE sub-phenotype in Swedish cohorts

MEF2D基因中一种罕见的调控变异会影响基因调控和剪接,并且与瑞典人群中的SLE亚表型相关。

Farias, Fabiana H G; Dahlqvist, Johanna; Kozyrev, Sergey V; Leonard, Dag; Wilbe, Maria; Abramov, Sergei N; Alexsson, Andrei; Pielberg, Gerli R; Hansson-Hamlin, Helene; Andersson, Göran; Tandre, Karolina; Bengtsson, Anders A; Sjöwall, Christopher; Svenungsson, Elisabet; Gunnarsson, Iva; Rantapää-Dahlqvist, Solbritt; Syvänen, Ann-Christine; Sandling, Johanna K; Eloranta, Maija-Leena; Rönnblom, Lars; Lindblad-Toh, Kerstin

TAF1, associated with intellectual disability in humans, is essential for embryogenesis and regulates neurodevelopmental processes in zebrafish

TAF1 与人类智力障碍有关,对斑马鱼的胚胎发生至关重要,并调节其神经发育过程

Sanna Gudmundsson, Maria Wilbe, Beata Filipek-Górniok, Anna-Maja Molin, Sara Ekvall, Josefin Johansson, Amin Allalou, Hans Gylje, Vera M Kalscheuer, Johan Ledin, Göran Annerén, Marie-Louise Bondeson

Revertant mosaicism repairs skin lesions in a patient with keratitis-ichthyosis-deafness syndrome by second-site mutations in connexin 26

回复镶嵌现象通过连接蛋白 26 的第二位点突变修复角膜炎-鱼鳞病-耳聋综合征患者的皮肤病变

Sanna Gudmundsson, Maria Wilbe, Sara Ekvall, Adam Ameur, Nicola Cahill, Ludmil B Alexandrov, Marie Virtanen, Maritta Hellström Pigg, Anders Vahlquist, Hans Törmä, Marie-Louise Bondeson