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- 2021
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Mark
Association of the Recurrent Rare Variant c.415T>C p.Phe139Leu in CLN5 with a Recessively Inherited Macular Dystrophy
(
- Contribution to journal › Article
- 2020
-
Mark
Severe retinitis pigmentosa phenotype associated with novel CNGB1 variants
(
- Contribution to journal › Article
- 2003
-
Mark
Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation
(
- Contribution to journal › Article
- 2002
-
Mark
Global gene expression analysis in a mouse model for Norrie disease: late involvement of photoreceptor cells
(
- Contribution to journal › Article