X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (22) 22
genetics & heredity (15) 15
index medicus (11) 11
female (10) 10
phenotype (10) 10
male (9) 9
mutation (8) 8
abnormalities, multiple - genetics (7) 7
syndrome (7) 7
adult (6) 6
child (5) 5
genetic aspects (5) 5
intellectual disability - genetics (5) 5
adolescent (4) 4
chromosome deletion (4) 4
infant, newborn (4) 4
middle aged (4) 4
research (4) 4
animals (3) 3
article (3) 3
chromosome aberrations (3) 3
cis-trans-isomerases - genetics (3) 3
disease (3) 3
gene therapy (3) 3
genomics (3) 3
karyotyping (3) 3
molecular biology (3) 3
pregnancy (3) 3
risk factors (3) 3
vision (3) 3
young adult (3) 3
abnormalities (2) 2
abnormalities, multiple - diagnosis (2) 2
abnormalities, multiple - pathology (2) 2
abridged index medicus (2) 2
adaptation (2) 2
analysis (2) 2
array cgh (2) 2
bardet-biedl syndrome (2) 2
bardet-biedl syndrome - genetics (2) 2
biochemistry, molecular biology (2) 2
blindness (2) 2
children (2) 2
chromosome disorders (2) 2
chromosome disorders - genetics (2) 2
chromosomes (2) 2
chromosomes, human, pair 18 - genetics (2) 2
copy number (2) 2
cytogenetics (2) 2
dna mutational analysis (2) 2
expression (2) 2
face - abnormalities (2) 2
fish (2) 2
flicker sensitivity (2) 2
forkhead transcription factors - genetics (2) 2
gene (2) 2
gene deletion (2) 2
gene duplication (2) 2
genes (2) 2
genetic therapy (2) 2
genetic variation (2) 2
genomes (2) 2
genotype (2) 2
haplotypes (2) 2
heterozygote (2) 2
identification (2) 2
in situ hybridization, fluorescence (2) 2
infant (2) 2
leber congenital amaurosis - genetics (2) 2
leber congenital amaurosis - therapy (2) 2
leber's congenital amaurosis (2) 2
life sciences (2) 2
mental retardation (2) 2
molecular chaperones (2) 2
monosomy (2) 2
mutations (2) 2
ophthalmology (2) 2
pediatrics (2) 2
photic stimulation (2) 2
polymorphism, single nucleotide (2) 2
population (2) 2
proteins (2) 2
proteins - genetics (2) 2
retinal-pigment epithelium (2) 2
retinitis-pigmentosa (2) 2
reverse transcriptase polymerase chain reaction (2) 2
rods and cones (2) 2
rpe65 (2) 2
rpe65 mutations (2) 2
scotopic (2) 2
temporal processing (2) 2
translocation (2) 2
zebrafish (2) 2
1506 (1) 1
22q11.2 (1) 1
3p interstitial deletion (1) 1
9q22.3 (1) 1
[ sdv.bbm.bm ] life sciences [q-bio]/biochemistry, molecular biology/molecular biology (1) 1
[sdv.bbm.bm]life sciences [q-bio]/biochemistry, molecular biology/molecular biology (1) 1
abca4-associated disease (1) 1
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


Nature Genetics, ISSN 1061-4036, 05/2013, Volume 45, Issue 5, pp. 518 - 521
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 2007, Volume 80, Issue 1, pp. 1 - 11
Journal Article
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 09/2017, Volume 54, Issue 9, pp. 613 - 623
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 04/2005, Volume 13, Issue 4, pp. 503 - 505
Journal Article
Journal Article
Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 2005, Volume 48, Issue 2, pp. 189 - 193
Journal Article
Annales de G n tique, ISSN 0003-3995, 12/2004
Journal Article