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EC Number
Disease
PubMed ID
Title of Publication
Category
Confidence Level
Retinitis Pigmentosa
Exome Sequencing Identified a Recessive RDH12 Mutation in a Family with Severe Early-Onset Retinitis Pigmentosa.
unassigned
0
Retinitis Pigmentosa
Novel RDH12 mutations associated with Leber congenital amaurosis and cone-rod dystrophy: biochemical and clinical evaluations.
unassigned
0
Retinitis Pigmentosa
The phenotype of early-onset retinal degeneration in persons with RDH12 mutations.
unassigned
0
Seizures
High frequency oscillations are less frequent but more specific to epileptogenicity during rapid eye movement sleep.
causal interaction
1
Seizures
High frequency oscillations are less frequent but more specific to epileptogenicity during rapid eye movement sleep.
therapeutic application
1
Seizures
High frequency oscillations are less frequent but more specific to epileptogenicity during rapid eye movement sleep.
unassigned
0
Stargardt Disease
Histopathology and immunocytochemistry of the neurosensory retina in fundus flavimaculatus.
therapeutic application
1
Stargardt Disease
ATP-binding cassette transporter ABCA4 and chemical isomerization protect photoreceptor cells from the toxic accumulation of excess 11-cis-retinal.
therapeutic application
1
Stargardt Disease
ATP-binding cassette transporter ABCA4 and chemical isomerization protect photoreceptor cells from the toxic accumulation of excess 11-cis-retinal.
ongoing research
2
Stargardt Disease
Histopathology and immunocytochemistry of the neurosensory retina in fundus flavimaculatus.
unassigned
0
<< < Results 381 - 390 of 400 > >>