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

Gene augmentation of LCA5-associated Leber congenital amaurosis ameliorates bulge region defects of the photoreceptor ciliary axoneme

LCA5 相关莱伯先天性黑蒙的基因增强可改善感光器睫状轴丝的凸起区域缺陷

期刊:JCI Insight
影响因子:6.3
doi:10.1172/jci.insight.169162
Siebren Faber, Olivier Mercey, Katrin Junger, Alejandro Garanto, Helen May-Simera, Marius Ueffing, Rob Wj Collin, Karsten Boldt, Paul Guichard, Virginie Hamel, Ronald Roepman
信号转导
发表日期：2023
文献求助 收藏

Autosomal recessive retinitis pigmentosa with RP1 mutations is associated with myopia

常染色体隐性遗传性视网膜色素变性伴RP1基因突变与近视有关

期刊:British Journal of Ophthalmology
影响因子:3.5
doi:10.1136/bjophthalmol-2014-306224
Chassine, Thomas; Bocquet, Béatrice; Daien, Vincent; Avila-Fernandez, Almudena; Ayuso, Carmen; Collin, Rob Wj; Corton, Marta; Hejtmancik, J Fielding; van den Born, L Ingeborgh; Klevering, B Jeroen; Riazuddin, S Amer; Sendon, Nathacha; Lacroux, Annie; Meunier, Isabelle; Hamel, Christian P
发表日期：2015
文献求助 收藏

Antisense Oligonucleotide (AON)-based Therapy for Leber Congenital Amaurosis Caused by a Frequent Mutation in CEP290

基于反义寡核苷酸（AON）的疗法治疗由CEP290基因常见突变引起的Leber先天性黑蒙

期刊:Molecular Therapy-Nucleic Acids
影响因子:6.1
doi:10.1038/mtna.2012.3
Collin, Rob Wj; den Hollander, Anneke I; van der Velde-Visser, Saskia D; Bennicelli, Jeannette; Bennett, Jean; Cremers, Frans Pm
发表日期：2012
文献求助 收藏