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

Congenital Hyperinsulinemic Hypoglycemia With a New HADH Mutation and Pancreatic Overexpression of GLP-1 Receptors

先天性高胰岛素血症性低血糖症伴有新的HADH基因突变和胰腺GLP-1受体过度表达

Widmer, Andrea; Zumsteg, Urs; Szinnai, Gabor; Filges, Isabel; Meier, Stephanie; De Geyter, Julie; Antwi, Kwadwo; Wild, Damian; Nuoffer, Jean-Marc; Christ, Emanuel

Single-Cell Triomics Analysis of Tumor Cells Infiltrating Patient-Derived Breast Cancer Scaffolds

对浸润患者来源乳腺癌支架的肿瘤细胞进行单细胞三组学分析

Filges, Stefan; Jonasson, Emma; Leiva Arrabal, Maria Del Carmen; Andersson, Lisa; Gustafsson, Anna; Dhingra, Dalia; Mendez, Pedro; Ooi, Aik; Sciambi, Adam; Landberg, Göran; Ruff, David; Ståhlberg, Anders

Author Correction: The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture

作者更正:人类纤毛病蛋白RSG1将CPLANE复合物与过渡区结构连接起来。

Vazquez, Neftalí; Lee, Chanjae; Valenzuela, Irene; Phan, Thao P; Derderian, Camille; Chávez, Marcelo; Mooney, Nancie A; Demeter, Janos; Aziz-Zanjani, Mohammad Ovais; Cusco, Ivon; Codina, Marta; Martínez-Gil, Núria; Valverde, Diana; Solarat, Carlos; Bruel, Ange-Line; Thauvin-Robinet, Cristel; Steichen, Elisabeth; Filges, Isabel; Joset, Pascal; De Geyter, Julie; Vaidyanathan, Krishna; Gardner, Tynan P; Toriyama, Michinori; Marcotte, Edward M; Drew, Kevin; Roberson, Elle C; Jackson, Peter K; Reiter, Jeremy F; Tizzano, Eduardo F; Wallingford, John B

The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture.

人类纤毛病蛋白 RSG1 将 CPLANE 复合物与过渡区结构连接起来

Vazquez Neftalí, Lee Chanjae, Valenzuela Irene, Phan Thao P, Derderian Camille, Chávez Marcelo, Mooney Nancie A, Demeter Janos, Aziz-Zanjani Mohammad Ovais, Cusco Ivon, Codina Marta, Martínez-Gil Núria, Valverde Diana, Solarat Carlos, Buel Ange-Line, Thauvin-Robinet Cristel, Steichen Elisabeth, Filges Isabel, Joset Pascal, De Geyter Julie, Vaidyanathan Krishna, Gardner Tynan P, Toriyama Michinori, Marcotte Edward M, Drew Kevin, Roberson Elle C, Jackson Peter K, Reiter Jeremy F, Tizzano Eduardo F, Wallingford John B

Digital sequencing is improved by using structured unique molecular identifiers

通过使用结构化的唯一分子标识符,可以改进数字测序。

Peter Micallef ,Manuel Luna Santamaría ,Mandy Escobar ,Daniel Andersson ,Tobias Österlund ,Pia Mouhanna ,Stefan Filges ,Gustav Johansson ,Henrik Fagman ,Christoffer Vannas ,Anders Ståhlberg

Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathy

POC5基因的双等位基因功能缺失变异会导致视网膜、内分泌和神经肌肉纤毛病综合征。

Vulto-van Silfhout, Anneke T; Jazet, Ingrid M; Yzer, Suzanne; Pas, Jeroen; Demirdas, Serwet; van Rossum, Elisabeth F C; Thiadens, Alberta A H J; van Beek, Ronald; Haer-Wigman, Lonneke; Barge-Schaapveld, Daniela Q C M; Brasch-Andersen, Charlotte; Frost, Simon; Bauwens, Miriam; De Baere, Elfride; Balikova, Irina; Van den Broeck, Filip; Weisz-Hubshman, Monika; Joset, Pascal; Miny, Peter; Filges, Isabel; Kohl, Susanne; De Angeli, Pietro; Kühlewein, Laura; Bodenbender, Jan-Philipp; Haack, Tobias; Poths, Karin; Fernandez-Caballero, Lidia; Corton, Marta; Blanco Kelly, Fiona; Ayuso, Carmen; Martínez-Esteban, Peggy; Vissing, John; Díaz-Manera, Jordi; Straub, Volker; Töpf, Ana; Lin, Siying; Arno, Gavin; Macken, William L; Spillane, Jennifer; Ramachandran, Radha; de Vrieze, Erik; van Ham, Tjakko; Roosing, Susanne; Oud, Machteld M

Arthrogryposis Multiplex Congenita (AMC) and counselling before and during pregnancy: a questionnaire study

先天性多发性关节挛缩症 (AMC) 与孕前及孕期咨询:一项问卷调查研究

Arduç, Arda; Slootbeek, Julia; de Vries, Johanna I P; Tan-Sindhunata, Maria B; Stoelinga, Femke; Sawatzky, Bonita; Filges, Isabel; Linskens, Ingeborg H

Human Phenotype Ontology Annotations for Rare Congenital Conditions: Application to Arthrogryposis Multiplex Congenita

罕见先天性疾病的人类表型本体注释:以先天性多发性关节挛缩症为例

Nematollahi, Shahrzad; Hamdy, Reggie C; van Bosse, Harold; Li, Joyce; Blanshay-Goldberg, Daniel; de Vries, Johanna I P; Dieterich, Klaus; Filges, Isabel; Bedard, Tanya; Haendel, Melissa; Torres, Monica Munoz; Robinson, Peter N; Dahan-Oliel, Noémi

Protocol: Machine learning for selecting moderators in meta-analysis: A systematic review of methods and their applications, and an evaluation using data on tutoring interventions

方案:机器学习在元分析中选择调节变量的应用:方法及其应用的系统评价,以及使用辅导干预数据进行的评估

Dietrichson, Jens; Klokker, Rasmus; Filges, Trine; Bengtsen, Elizabeth; Pigott, Therese D

Protocol: Proactive resilience programmes for improving resilience and psychological adaptation in employees in high-risk occupations: A systematic review

方案:针对高风险职业员工,旨在提高其韧性和心理适应能力的积极韧性计划:系统性综述

Filges, Trine; Mølgaard, Anja Bondebjerg; Smedslund, Geir; Kildemoes, Malene W; Bengtsen, Elizabeth