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1
The X-linked retinitis pigmentosa protein RP2 facilitates G protein traffic.
Baskı/Yayın Bilgisi 2012Journal article -
2
Optical coherence tomography and electrophysiology in X-linked juvenile retinoschisis associated with a novel mutation in the XLRS1 gene.
Baskı/Yayın Bilgisi 2001Journal article -
3
Novel retinal and cone photoreceptor transcripts revealed by human macular expression profiling.
Baskı/Yayın Bilgisi 2007Journal article -
4
Genomic structure and pattern of alternate splicing for RIM1. A candidate gene for CORD7
Baskı/Yayın Bilgisi 2002Conference item -
5
Genomic organisation and alternative splicing of human RIM1, a gene implicated in autosomal dominant cone-rod dystrophy (CORD7).
Baskı/Yayın Bilgisi 2003Journal article -
6
Identification of novel mutations in the carbohydrate sulfotransferase gene (CHST6) causing macular corneal dystrophy.
Baskı/Yayın Bilgisi 2002Journal article -
7
CRISPR/Cas9-targeted enrichment and long-read sequencing of the Fuchs endothelial corneal dystrophy–associated TCF4 triplet repeat
Baskı/Yayın Bilgisi 2019Journal article -
8
Novel homozygous splicing mutations in ARL2BP cause autosomal recessive retinitis pigmentosa
Baskı/Yayın Bilgisi 2018Journal article -
9
Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data
Baskı/Yayın Bilgisi 2017Journal article -
10
Autosomal-dominant corneal endothelial dystrophies CHED1 and PPCD1 are allelic disorders caused by non-coding mutations in the promoter of OVOL2
Baskı/Yayın Bilgisi 2015Journal article