Show
Sort by
-
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
-
Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness
-
Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response
-
Genotyping microarray for CSNB-associated genes