X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (382) 382
humans (352) 352
female (205) 205
male (199) 199
mutation (193) 193
genetics & heredity (135) 135
ophthalmology (131) 131
pedigree (131) 131
adult (127) 127
retinitis pigmentosa (110) 110
retinitis pigmentosa - genetics (103) 103
middle aged (87) 87
genetics (83) 83
phenotype (83) 83
genetic aspects (82) 82
adolescent (80) 80
autosomal recessive (79) 79
child (78) 78
mutations (73) 73
genes (70) 70
animals (69) 69
dna mutational analysis (68) 68
gene (68) 68
retina (56) 56
retinitis-pigmentosa (55) 55
electroretinography (54) 54
disease (53) 53
aged (49) 49
eye diseases (49) 49
proteins (49) 49
genes, recessive (46) 46
eye proteins - genetics (44) 44
analysis (42) 42
deafness (42) 42
research article (42) 42
consanguinity (40) 40
medicine (40) 40
multidisciplinary sciences (38) 38
retinal degeneration (38) 38
autosomal dominant (37) 37
young adult (36) 36
biochemistry & molecular biology (35) 35
child, preschool (35) 35
deoxyribonucleic acid--dna (35) 35
family (35) 35
human genetics (35) 35
research (35) 35
sense organs (35) 35
syndrome (35) 35
autosomal-dominant (34) 34
gene mutations (34) 34
identification (34) 34
mice (34) 34
autosomal recessive inheritance (33) 33
medicine & public health (33) 33
article (32) 32
genetic structures (32) 32
genetic testing (32) 32
genotype (32) 32
pediatrics (32) 32
genetic research (31) 31
science (31) 31
genes, dominant (30) 30
leber congenital amaurosis (30) 30
patients (30) 30
photoreceptors (30) 30
clinical neurology (29) 29
degeneration (29) 29
diagnosis (29) 29
genetic disorders (29) 29
neurosciences (28) 28
polymerase chain reaction (27) 27
protein (27) 27
retinitis (27) 27
base sequence (26) 26
dna sequencing (26) 26
genomes (26) 26
genomics (26) 26
heterozygote (26) 26
retinitis pigmentosa - diagnosis (26) 26
biology (25) 25
cone-rod dystrophy (24) 24
hearing loss (24) 24
homozygote (24) 24
infant (24) 24
prevalence (24) 24
dna (23) 23
nucleotide sequencing (23) 23
alleles (22) 22
autosomal dominant retinitis pigmentosa (22) 22
dystrophy (22) 22
medicine, research & experimental (22) 22
molecular sequence data (22) 22
mutation - genetics (22) 22
retinitis pigmentosa - physiopathology (22) 22
clinical genetics (21) 21
genetic linkage (21) 21
amino acid sequence (20) 20
chromosome mapping (20) 20
fundus oculi (20) 20
more...
Library Location Library Location
Language Language
Language Language
X
Sort by Item Count (A-Z)
Filter by Count
English (449) 449
German (7) 7
Korean (2) 2
Spanish (2) 2
French (1) 1
Japanese (1) 1
Swedish (1) 1
more...
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


International Journal of Neuroscience, ISSN 0020-7454, 1/2015, Volume 125, Issue 1, pp. 43 - 49
Journal Article
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, ISSN 0146-0404, 07/2019, Volume 60, Issue 8, pp. 2822 - 2835
PURPOSE. To compare phenotype variability in retinitis pigmentosa patients with recessive and dominant mutations in the SNRNP200 gene. METHODS. In a... 
genotype phenotype correlation | MISSENSE SUBSTITUTIONS | ISCEV STANDARD | MOLECULAR DIAGNOSIS | DYSTROPHY | FAMILIES | GENES | retinitis pigmentosa | OPHTHALMOLOGY | MUTATIONS | SNRNP200 | autosomal dominant | PROBANDS | autosomal recessive
Journal Article
Japanese Journal of Ophthalmology, ISSN 0021-5155, 1997, Volume 41, Issue 1, pp. 7 - 11
Journal Article
Journal Article
JAPANESE JOURNAL OF OPHTHALMOLOGY, ISSN 0021-5155, 01/1997, Volume 41, Issue 1, pp. 7 - 11
Retinitis pigmentosa (RP) is a group of genetically heterogeneous diseases with autosomal recessive (AR), autosomal dominant, and X-linked modes of... 
inbreeding coefficient | prevalence | ALPHA-SUBUNIT | consanguineous marriage | retinitis pigmentosa | K SU OPHTHALMOLOGY | OPHTHALMOLOGY | MUTATIONS | PHOSPHODIESTERASE | autosomal recessive inheritance | gene frequency
Journal Article
European journal of ophthalmology, ISSN 1120-6721, 2003, Volume 13, pp. S44 - 56
Journal Article
Ophthalmic Research, ISSN 0030-3747, 1980, Volume 12, Issue 5-6, pp. 270 - 276
The investigation of 3 families with retinitis pigmentosa (1 with autosomal dominant, two with autosomal recessive inheritance) showed no close linkage of the... 
Original Paper | Autosomal dominant retinitis pigmentosa | Autosomal recessive retinitis pigmentosa | Linkage | HLA system
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2009, Volume 85, Issue 5, pp. 581 - 592
Journal Article
PLoS ONE, ISSN 1932-6203, 11/2012, Volume 7, Issue 11, pp. e50205 - e50205
Journal Article
No results were found for your search.

Cannot display more than 1000 results, please narrow the terms of your search.