X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (31) 31
humans (27) 27
female (22) 22
ophthalmology (22) 22
male (21) 21
adult (18) 18
middle aged (16) 16
aged (14) 14
genetics & heredity (12) 12
dna mutational analysis (11) 11
adolescent (8) 8
mutation (8) 8
animals (7) 7
pedigree (7) 7
phenotype (7) 7
treatment outcome (7) 7
visual acuity (7) 7
child (6) 6
fluorescein angiography (6) 6
photosensitizing agents - therapeutic use (6) 6
porphyrins - therapeutic use (6) 6
prospective studies (6) 6
aged, 80 and over (5) 5
alleles (5) 5
base sequence (5) 5
biochemistry & molecular biology (5) 5
eye (5) 5
follow-up studies (5) 5
genetic aspects (5) 5
genetics (5) 5
locus (5) 5
alpha-subunit (4) 4
amino acid sequence (4) 4
choroidal neovascularization - drug therapy (4) 4
choroidal neovascularization - etiology (4) 4
dystrophy (4) 4
eye diseases (4) 4
eye proteins - genetics (4) 4
genes (4) 4
genetic research (4) 4
mutation - genetics (4) 4
mutations (4) 4
optic atrophies, hereditary - genetics (4) 4
photochemotherapy (4) 4
research (4) 4
retina (4) 4
retinitis-pigmentosa (4) 4
total colourblindness (4) 4
achromatopsia (3) 3
age of onset (3) 3
analysis (3) 3
articles (3) 3
choroid neoplasms - drug therapy (3) 3
color vision defects - genetics (3) 3
electrophysiology (3) 3
exons (3) 3
exons - genetics (3) 3
genetic structures (3) 3
macular degeneration (3) 3
macular degeneration - genetics (3) 3
medical and health sciences (3) 3
medicin och hälsovetenskap (3) 3
molecular sequence data (3) 3
neurosciences (3) 3
photodynamic therapy (3) 3
photoreceptors (3) 3
polymorphism, single-stranded conformational (3) 3
retina - metabolism (3) 3
retinitis pigmentosa (3) 3
retinitis pigmentosa - genetics (3) 3
safety (3) 3
surgery (3) 3
verteporfin (3) 3
visual acuity - physiology (3) 3
acetylcholine receptors (2) 2
acuity (2) 2
age (2) 2
amacrine cells (2) 2
basic medicine (2) 2
bietti (2) 2
biochemistry, general (2) 2
cat retina (2) 2
cats (2) 2
cells (2) 2
child, preschool (2) 2
choroidal neovascularization (2) 2
chromosome mapping (2) 2
clonal deletion (2) 2
color blindness (2) 2
cones (2) 2
conserved sequence (2) 2
crystalline dystrophy (2) 2
cyclic nucleotide phosphodiesterases, type 6 - genetics (2) 2
cyclic nucleotide-gated cation channels (2) 2
cyp4v2 (2) 2
dna - chemistry (2) 2
dna - genetics (2) 2
dna primers - genetics (2) 2
dna, complementary - genetics (2) 2
double-blind method (2) 2
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 11/2009, Volume 106, Issue 46, pp. 19581 - 19586
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 2000, Volume 67, Issue 4, pp. 800 - 813
Journal Article
Human Mutation, ISSN 1059-7794, 08/2019, Volume 40, Issue 8, pp. 1145 - 1155
Achromatopsia (ACHM) is a hereditary cone photoreceptor disorder characterized by the inability to discriminate colors, nystagmus, photophobia, and low‐visual... 
transducin | mutations | GNAT2 | achromatopsia | copy number variations | Genetic research | Genetic aspects | Color blindness | Genes | Clonal deletion | Copy number | Acetylcholine receptors | Nystagmus | Transducin | Photoreceptors | Mutation | Acuity | Hereditary diseases | Index Medicus
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 2000, Volume 8, Issue 4, pp. 286 - 292
Journal Article
Human Mutation, ISSN 1059-7794, 06/2019, Volume 40, Issue 6, pp. 765 - 787
Inherited retinal disorders (IRD) represent clinically and genetically heterogeneous diseases. To date, pathogenic variants have been identified in ~260 genes.... 
icCSNB | synonymous variants | intronic variants | IRD | minigene approach | gene defect | CACNA1F | COMPLEX | LARGE COHORT | GENOME | ABCR | MUTATION SPECTRUM | UNC80 | DYSTROPHY | FAMILIES | GENETICS & HEREDITY | PROBANDS | STATIONARY NIGHT BLINDNESS | Genetic research | Genetic aspects | Nucleotide sequencing | Genes | Genomics | DNA sequencing | Phenotypes | Blindness | Retina | Genomes | Regulatory sequences | Diagnosis | Nyctalopia | Stationary night blindness
Journal Article
Ophthalmology, ISSN 0161-6420, 2015, Volume 122, Issue 9, pp. 1881 - 1888
Purpose To analyze the underlying risk factors in patients with nonarteritic central retinal artery occlusion (CRAO) in a well-defined and homogenous group of... 
Ophthalmology | Medical colleges | Cardiovascular diseases | Retinal diseases | Risk factors
Journal Article
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 2005, Volume 13, Issue 3, pp. 302 - 308
Journal Article