Keyphrases
Affected Family Members
20%
Alpha Wave
20%
Amplitude Ratio
20%
Asian Ethnicity
20%
CLN7
100%
Compound Heterozygous mutation
20%
Cone-rod Dystrophy
20%
Electrophysiology
20%
Electroretinography
20%
Family Members
20%
Flash Electroretinogram
20%
Founder mutation
20%
Genomic DNA (gDNA)
20%
Immunofluorescence Microscopy
20%
Immunohistology
20%
Infantile Onset
20%
Late Infantile
20%
Macular
20%
Macular Disease
20%
Maculopathy
40%
MFSD8
100%
Murine Retina
20%
Mutation Combination
20%
Neurodegenerative Conditions
20%
Neurological Diseases
20%
Neuronal Ceroid Lipofuscinosis
20%
Next-generation Sequencing
20%
Nonsyndromic
100%
Ophthalmic Clinic
20%
Outer Plexiform Layer
20%
Photopic
20%
Photoreceptor
100%
Photoreceptor Synapse
20%
Photoreduction
20%
Presynaptic Terminal
100%
Recessive mutation
20%
Retina
20%
Retinal Diseases
40%
Retinal Dystrophy
100%
Retinal Imaging
20%
Retinopathy
40%
Single Flash
20%
South Asian
20%
Syndromic
20%
Variant Severity
20%
Whole Exome
20%
Whole Genome
20%
Medicine and Dentistry
Agents Acting on the Eye
33%
Allele
100%
Batten Disease
33%
Confocal Microscopy
33%
Electrophysiology
33%
Electroretinography
33%
Exome
33%
Flushing
33%
Genomic DNA
33%
Immunofluorescence
33%
Immunohistology
33%
Maculopathy
100%
Neurologic Disease
33%
Next Generation Sequencing
33%
Outer Plexiform Layer
33%
Photoreceptor Cell
100%
Phototransduction
33%
Retina Disease
66%
Retina Dystrophy
100%
Retinal Imaging
33%
Retinopathy
66%
Rod-Cone Dystrophy
33%
Synapse
33%
Biochemistry, Genetics and Molecular Biology
Allele
100%
Batten Disease
33%
Confocal Microscopy
33%
Electrophysiology
33%
Electroretinography
33%
Exome
33%
Flushing
33%
Genomics
33%
Immunofluorescence
33%
Maculopathy
100%
Neuronal Ceroid Lipofuscinosis
33%
Next Generation Sequencing
33%
Photoreceptor Cell
100%
Phototransduction
33%
Synapse
33%
Neuroscience
Confocal Microscopy
25%
Electrophysiology
25%
Electroretinography
25%
Genomic DNA
25%
Immunofluorescence
25%
Maculopathy
75%
Nervous System Disorder
25%
Neuronal Ceroid Lipofuscinosis
25%
Photoreceptor Cell
100%
Phototransduction
25%
Retinal Disease
100%
Retinal Dystrophy
100%
Rod-Cone Dystrophy
25%
Synapse
25%