X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (185) 185
humans (183) 183
male (126) 126
female (123) 123
ophthalmology (110) 110
mutation (80) 80
middle aged (72) 72
genetics & heredity (61) 61
pedigree (60) 60
adult (58) 58
eye diseases (55) 55
genetic aspects (55) 55
aged (50) 50
polymorphism, single nucleotide (49) 49
animals (46) 46
macular degeneration (44) 44
genotype (41) 41
retinitis pigmentosa - genetics (40) 40
molecular sequence data (39) 39
biochemistry & molecular biology (37) 37
genetics (37) 37
research article (37) 37
risk factors (37) 37
research (36) 36
dna mutational analysis (35) 35
eye proteins - genetics (35) 35
genes (35) 35
macular degeneration - genetics (34) 34
sense organs (32) 32
genetic structures (30) 30
leber congenital amaurosis (30) 30
phenotype (30) 30
retinal degeneration (30) 30
alleles (29) 29
base sequence (29) 29
retinitis pigmentosa (29) 29
aged, 80 and over (28) 28
disease (28) 28
electroretinography (27) 27
amino acid sequence (26) 26
case-control studies (26) 26
gene (26) 26
proteins (26) 26
child (25) 25
gene mutations (25) 25
mutations (25) 25
analysis (24) 24
genetic predisposition to disease (24) 24
adolescent (23) 23
fluorescein angiography (23) 23
retina (23) 23
retinitis-pigmentosa (23) 23
tomography, optical coherence (22) 22
genes, recessive (21) 21
homozygote (21) 21
mice (20) 20
young adult (20) 20
complement factor h - genetics (19) 19
cone-rod dystrophy (19) 19
consanguinity (19) 19
physiological aspects (19) 19
association (18) 18
mutation, missense (18) 18
retinal degeneration - genetics (18) 18
age (17) 17
age-related macular degeneration (17) 17
blindness (17) 17
child, preschool (17) 17
haplotypes (17) 17
retrospective studies (17) 17
complement factor-h (16) 16
medicine (16) 16
membrane proteins - genetics (16) 16
protein (16) 16
proteins - genetics (16) 16
article (15) 15
chromosome mapping (15) 15
degeneration (15) 15
nerve tissue proteins - genetics (15) 15
pakistan (15) 15
photoreceptors (15) 15
polymerase chain reaction (15) 15
abridged index medicus (14) 14
fundus oculi (14) 14
gene frequency (14) 14
genetic research (14) 14
genetic variation (14) 14
glaucoma (14) 14
maculopathy (14) 14
sequence analysis, dna (14) 14
studies (14) 14
genetic association studies (13) 13
genomes (13) 13
genomics (13) 13
visual acuity - physiology (13) 13
cohort studies (12) 12
dna - genetics (12) 12
eye proteins - metabolism (12) 12
identification (12) 12
joubert-syndrome (12) 12
more...
Library Location Library Location
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


2004, 1. Aufl., Novartis Foundation symposium, ISBN 0470853573, Volume 255, 228
Retinal dystrophies are the major causes of incurable blindness in the Western world. Our insight into their aetiology has improved remarkably over the past... 
Retinal degeneration | Gene therapy | Congresses
eBook
Molecular Immunology, ISSN 0161-5890, 2017, Volume 84, pp. 65 - 76
Age-related macular degeneration (AMD) is a progressive retinal disease and the major cause of irreversible vision loss in the elderly. Numerous studies have... 
Journal Article
Journal Article
Nature Genetics, ISSN 1061-4036, 2015, Volume 47, Issue 7, pp. 757 - 765
Journal Article
Journal Article
Nature Genetics, ISSN 1061-4036, 2009, Volume 41, Issue 6, pp. 739 - 745
Journal Article
Nature Genetics, ISSN 1061-4036, 2013, Volume 45, Issue 7, pp. 813 - 817
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 08/2011, Volume 89, Issue 2, pp. 253 - 264
A fundamental challenge in analyzing exome-sequence data is distinguishing pathogenic mutations from background polymorphisms. To address this problem in the... 
RHODOPSIN GENE | CHIP-SEQ REVEALS | FLAGELLAR LENGTH | RETINAL DISEASE | TRANSCRIPTIONAL NETWORK | KINASE | MOUSE | GENETICS & HEREDITY | CRX | GENOME BROWSER DATABASE | FAMILY | Genes, Recessive - genetics | Homeodomain Proteins - metabolism | Humans | Middle Aged | Genetic Loci - genetics | Molecular Sequence Data | Male | Young Adult | Adult | Female | Transcription, Genetic | Cilia - enzymology | Protein-Serine-Threonine Kinases - metabolism | Amino Acid Sequence | Protein-Serine-Threonine Kinases - genetics | Retinitis Pigmentosa - genetics | Exons - genetics | Chromosome Mapping | Mutation - genetics | Sequence Analysis, DNA | Regulatory Sequences, Nucleic Acid - genetics | Cilia - genetics | Retinitis Pigmentosa - enzymology | Animals | Rhodopsin - genetics | Pedigree | Trans-Activators - metabolism | Mice | Protein-Serine-Threonine Kinases - chemistry | Photoreceptor Cells, Vertebrate - metabolism | Photoreceptor Cells, Vertebrate - pathology | Ciliary body | Chromosome mapping | Usage | Retinitis pigmentosa | Physiological aspects | Causes of | Genetic aspects | Nucleotide sequencing | Eye diseases | Mutation | Kinases | Genes | Rodents | Polymorphism | Animal models | Transcription factors | retinal degeneration | Nonsense mutation | Amino acids | Data processing | MAP kinase | Retina | Missense mutation | Photoreceptors | Gene mapping | Cilia | Index Medicus
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 07/2013, Volume 93, Issue 1, pp. 110 - 117
Journal Article