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C

Caroline Van Cauwenbergh

Ghent University
H指数:23
被引数:1,562

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Intravitreal antisense oligonucleotide sepofarsen in Leber congenital amaurosis type 10: a phase 1b/2 trial
2022-04-0463
OAAI
X-Linked Retinoschisis Novel Clinical Observations and Genetic Spectrum in 340 Patients

X连锁视网膜劈裂症340患者的新临床观察和遗传谱

2022-02-0136
OA
Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10
2021-12-2317
OAAI
The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement

在罕见眼病中需要广泛使用的基因组检测: ern-eye位置声明

2021-03-2028
OAAI
Charting Extracellular Transcriptomes in The Human Biofluid RNA Atlas
2020-12-0145
OAAI
ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants
2019-08-01115
OAAI
Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copynumber variations (vol 20, pg 202, 2018)
2019-08-011
OAAI
Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect
2018-12-17167
PREAI
Clinical Characterization of 66 Patients With Congenital Retinal Disease Due to the Deep-Intronic c.2991+11655A>G Mutation in CEP290
2018-09-0422
OAAI
The Spectrum of Structural and Functional Abnormalities in Female Carriers of Pathogenic Variants in the RPGR Gene
2018-08-1344
OAAI
Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations
2018-02-0148
OAAI