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- 2022
-
Mark
The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy
(
- Contribution to journal › Article
- 2016
-
Mark
Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing.
(
- 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
- 2009
-
Mark
Mutations in a BTB-Kelch Protein, KLHL7, Cause Autosomal-Dominant Retinitis Pigmentosa
(
- Contribution to journal › Article