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

The Phenotypic and Genotypic Features of ADAMTSL4-Related Ocular Disease

ADAMTSL4相关眼病的表型和基因型特征

Williams, Katie M; Berger, Wolfgang; Koller, Samuel; Pfiffner, Fatma Kivrak; Maspoli, Alessandro; Gloggnitzer, Jiradet; Brühwiler, Britta V T; Stathopoulos, Christina; Munier, Francis; Allen, Louise; Iosifidis, Christos; Black, Graeme C; Sergouniotis, Panagiotis I; Lloyd, Ian Christopher; Gerth-Kahlert, Christina

Genetic Landscape of Congenital Cataracts in a Swiss Cohort: Addressing Diagnostic Oversights in Nance-Horan Syndrome

瑞士人群先天性白内障的遗传图谱:解决南斯-霍兰综合征的诊断疏漏

Delas, Flora; Gloggnitzer, Jiradet; Maspoli, Alessandro; Kurmann, Lisa; Frueh, Beatrice E; Dacheva, Ivanka; Hildebrand, Darius; Berger, Wolfgang; Gerth-Kahlert, Christina

Rescue of Aberrant Splicing Caused by a Novel Complex Deep-intronic ABCA4 Allele

挽救由新型复杂深内含子ABCA4等位基因引起的异常剪接

Maggi, Jordi; Feil, Silke; Gloggnitzer, Jiradet; Maggi, Kevin; Hanson, James V M; Koller, Samuel; Gerth-Kahlert, Christina; Berger, Wolfgang

Nanopore Deep Sequencing as a Tool to Characterize and Quantify Aberrant Splicing Caused by Variants in Inherited Retinal Dystrophy Genes

纳米孔深度测序作为一种表征和定量遗传性视网膜营养不良基因变异引起的异常剪接的工具

Jordi Maggi,Silke Feil,Jiradet Gloggnitzer,Kevin Maggi,Ruxandra Bachmann-Gagescu,Christina Gerth-Kahlert,Samuel Koller,Wolfgang Berger

Nonsense-Mediated RNA Decay Factor UPF1 Is Critical for Posttranscriptional and Translational Gene Regulation in Arabidopsis

无义介导的RNA衰变因子UPF1在拟南芥的转录后和翻译后基因调控中起关键作用

Vivek K Raxwal,Craig G Simpson,Jiradet Gloggnitzer,Juan Carlos Entinze,Wenbin Guo,Runxuan Zhang,John W S Brown,Karel Riha

Mutations in Caenorhabditis elegans him-19 show meiotic defects that worsen with age

秀丽隐杆线虫 him-19 突变显示减数分裂缺陷,且会随着年龄增长而恶化

Lois Tang, Thomas Machacek, Yasmine M Mamnun, Alexandra Penkner, Jiradet Gloggnitzer, Christina Wegrostek, Robert Konrat, Michael F Jantsch, Josef Loidl, Verena Jantsch