コーパス検索結果 (1語後でソート)
通し番号をクリックするとPubMedの該当ページを表示します
1 , which lack rod function and are a model of congenital stationary night blindness.
2 eficiencies in its proteins lead to complete congenital stationary night blindness.
3 in causes constitutive activity and leads to congenital stationary night blindness.
4 is a new model of human autosomal recessive congenital stationary night blindness.
5 n the human population and is referred to as congenital stationary night blindness.
6 i disease, a human RK deficiency that causes congenital stationary night blindness.
7 nd extend the known genetic heterogeneity in congenital stationary night blindness.
8 ypes including retinitis pigmentosa (RP) and congenital stationary night blindness.
12 ide an animal model for the complete form of congenital stationary night blindness, a human disorder
13 sential feature of retinal diseases, such as congenital stationary night blindness, albinism, blue co
14 n rhodopsin cause retinal diseases including congenital stationary night blindness and retinitis pigm
15 en patients were screened for mutations with congenital stationary night blindness and RP genotyping
20 in the opsin gene have been associated with congenital stationary night blindness, considered to be
21 utation H258N in PDE6beta has been linked to congenital stationary night blindness (CSNB) in a large
22 y for LP (LP/LP) is directly associated with congenital stationary night blindness (CSNB) in Appaloos
24 etic disorders-such as ocular albinism (OA), congenital stationary night blindness (CSNB), and blue-c
25 rofound retinal dysfunction resembling human congenital stationary night blindness (CSNB), characteri
26 st frequent diagnoses without cells included congenital stationary night blindness (CSNB), LCA, Starg
29 toration of vision in patients with complete congenital stationary night blindness (CSNB1), where sig
32 shares similarities with that of incomplete congenital stationary night blindness (CSNB2) patients.
35 is, Best's disease, Stargardt's disease, and congenital stationary night blindness is presented, alon
36 e have been implicated in the development of congenital stationary night blindness type 1 (CSNB1).
37 s in the human CACNA1F gene cause incomplete congenital stationary night blindness type 2 (CSNB2), a
39 des nyctalopin, lead to the retinal disorder congenital stationary night blindness which is character
WebLSDに未収録の専門用語(用法)は "新規対訳" から投稿できます。