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Genetic and Clinical Characterization of Danish Achromatopsia Patients
Mette Kjøbæk Gundestrup Andersen
*
,
Mette Bertelsen
,
Karen Grønskov
, Susanne Kohl,
Line Kessel
*
Corresponding author for this work
Department of Ophthalmology
Department of Clinical Genetics
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Keyphrases
Achromatopsia
100%
Clinical Characterization
100%
Genetic Characterization
100%
PDE6C
80%
CNGB3
60%
Best-corrected Visual Acuity
60%
GNAT2
40%
Genotype-phenotype Correlation
40%
Nystagmus
40%
Genotype
20%
Disease Course
20%
Medical Records
20%
Cause of Disease
20%
Novel Variants
20%
National Registry
20%
Clinical Data
20%
Genetic Analysis
20%
Large Cohort
20%
Color Vision
20%
Photophobia
20%
CNGA3
20%
Color Blindness
20%
Myopia
20%
Refractive Error
20%
Reduced Vision
20%
Phenotypic Characteristics
20%
Congenital Disorders
20%
Cone Photoreceptor
20%
Visual Field
20%
Long Follow-up
20%
Clinical Differences
20%
Progressive Deterioration
20%
Retrospective Design
20%
Stationary Conditions
20%
Natural History Study
20%
Progressive Phenotype
20%
Medicine and Dentistry
Color Blindness
100%
Best Corrected Visual Acuity
50%
Disease
33%
Genotype Phenotype Correlation
33%
Medical Record
16%
Deterioration
16%
Color Vision
16%
Visual Field
16%
Genetic Analysis
16%
Photophobia
16%
Photoreceptor
16%
Refractive Error
16%
Congenital Disorder
16%
Low Vision
16%
Biochemistry, Genetics and Molecular Biology
Genetics
100%
Achromatopsia
100%
Best Corrected Visual Acuity
60%
Genotype Phenotype Correlation
40%
Visual Field
20%
Medical Record
20%
Color Vision
20%
Pharmacology, Toxicology and Pharmaceutical Science
Color Blindness
100%
Disease
33%
Deterioration
16%
Congenital Disorder
16%
Photophobia
16%
Low Vision
16%
Refraction Error
16%
Optokinetic Nystagmus
16%
Neuroscience
Achromatopsia
100%
Myopia
20%
Photoreceptor
20%
Refractive Error
20%
Congenital Disorder
20%
Color Blindness
20%