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<< < Results 11 - 20 of 165 > >>
EC Number
Disease
PubMed ID
Title of Publication
Category
Confidence Level
Blindness
RDH12, a retinol dehydrogenase causing Leber's congenital amaurosis, is also involved in steroid metabolism.
causal interaction
diagnostic usage
unassigned
3
1
0
Blindness
Novel RDH12 mutations associated with Leber congenital amaurosis and cone-rod dystrophy: biochemical and clinical evaluations.
causal interaction
ongoing research
unassigned
4
3
0
Blindness
Retinol dehydrogenases RDH11 and RDH12 in the mouse retina: expression levels during development and regulation by oxidative stress.
causal interaction
unassigned
1
0
Blindness
Retinol dehydrogenase 12 detoxifies 4-hydroxynonenal in photoreceptor cells.
causal interaction
unassigned
1
0
Blindness
Which Leber congenital amaurosis patients are eligible for gene therapy trials?
causal interaction
unassigned
1
0
Blindness
Novel RDH12 sequence variations in Leber congenital amaurosis.
ongoing research
unassigned
1
0
Blindness
Reduction of all-trans-retinal in vertebrate rod photoreceptors requires the combined action of RDH8 and RDH12.
causal interaction
unassigned
3
0
Blindness
Genome-wide homozygosity mapping in families with leber congenital amaurosis identifies mutations in AIPL1 and RDH12 genes.
causal interaction
diagnostic usage
therapeutic application
unassigned
1
1
1
0
Blindness
Structural Insights into the Drosophila melanogaster Retinol Dehydrogenase, a Member of the Short-Chain Dehydrogenase/Reductase Family.
ongoing research
unassigned
3
0
Blindness
Phenotype-genotype correlation with Sanger sequencing identified retinol dehydrogenase 12 (RDH12) compound heterozygous variants in a Chinese family with Leber congenital amaurosis.
unassigned
0
<< < Results 11 - 20 of 165 > >>