Show
Sort by
-
- Journal Article
- A1
- open access
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia
-
- Journal Article
- A1
- open access
Loss of function of RIMS2 causes a syndromic congenital cone-rod synaptic disease with neurodevelopmental and pancreatic involvement
-
Where are the missing gene defects in inherited retinal disorders? : intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders
-
Biallelic mutations in GNB3 cause a unique form of autosomal-recessive congenital stationary night blindness
-
Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome
-
- Journal Article
- A1
- open access
Spectrum of Cav1.4 dysfunction in congenital stationary night blindness type 2
-
Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness
-
Mutations in IMPG1 cause vitelliform macular dystrophies
-
Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness
-
Pseudoxanthoma elasticum with generalized retinal dysfunction, a common finding?