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- 2016
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Mark
A reference panel of 64,976 haplotypes for genotype imputation
(
- Contribution to journal › Article
- 2014
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Mark
The transcription factor GTF2IRD1 regulates the topology and function of photoreceptors by modulating photoreceptor gene expression across the retina
2014) In The Journal of Neuroscience : the official journal of the Society for Neuroscience 34(46). p.68-15356(
- Contribution to journal › Article
- 2012
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Mark
Mutations in RPGR and RP2 Account for 15% of Males with Simplex Retinal Degenerative Disease
(
- Contribution to journal › Article
- 2010
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Mark
Phenotype associated with mutation in the recently identified autosomal dominant retinitis pigmentosa KLHL7 gene.
(
- Contribution to journal › Article
- 2009
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Mark
Mutations in a BTB-Kelch Protein, KLHL7, Cause Autosomal-Dominant Retinitis Pigmentosa
(
- Contribution to journal › Article
- 2006
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Mark
Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration
(
- Contribution to journal › Article
- 2003
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Mark
Clinical studies of X-linked retinitis pigmentosa in three Swedish families with newly identified mutations in the RP2 and RPGR-ORF15 genes
(
- Contribution to journal › Article
- 1997
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Mark
Analysis of the RPGR gene in 11 pedigrees with the retinitis pigmentosa type 3 genotype: Paucity of mutations in the coding region, but splice defects in two families
(
- Contribution to journal › Article