UofT Libraries is getting a new library services platform in January 2021.
Learn more about the change.

Search Articles

X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
science & technology (168) 168
life sciences & biomedicine (155) 155
humans (151) 151
male (110) 110
ophthalmology (101) 101
mutation (96) 96
female (94) 94
pedigree (81) 81
biochemistry & molecular biology (61) 61
asian continental ancestry group - genetics (60) 60
adult (51) 51
dna mutational analysis (48) 48
research article (48) 48
child (40) 40
adolescent (39) 39
eye diseases (39) 39
eye proteins - genetics (36) 36
phenotype (36) 36
base sequence (31) 31
molecular sequence data (29) 29
china (28) 28
genetics & heredity (28) 28
myopia - genetics (28) 28
child, preschool (27) 27
genetic aspects (27) 27
genetic predisposition to disease (25) 25
young adult (25) 25
genetic linkage (22) 22
genotype (22) 22
sequence analysis, dna (22) 22
animals (21) 21
medicine, research & experimental (21) 21
polymerase chain reaction (21) 21
research & experimental medicine (21) 21
chinese (20) 20
middle aged (20) 20
mutation - genetics (20) 20
retina (20) 20
dna, mitochondrial - genetics (19) 19
family (19) 19
genes (19) 19
genetic structures (19) 19
retinitis pigmentosa - genetics (19) 19
alleles (18) 18
heterozygote (18) 18
myopia (18) 18
sense organs (18) 18
exons (17) 17
optic atrophy, hereditary, leber - genetics (17) 17
case-control studies (16) 16
gene frequency (16) 16
genomes (16) 16
amino acid sequence (15) 15
china - epidemiology (15) 15
electroretinography (15) 15
gene mutations (15) 15
genomics (15) 15
haplotypes (15) 15
human genetics (15) 15
patients (15) 15
research (15) 15
genetic association studies (14) 14
genetics (14) 14
lod score (14) 14
medicine (14) 14
proteins (14) 14
deoxyribonucleic acid--dna (13) 13
exome - genetics (13) 13
genetic variation (13) 13
infant (13) 13
laboratories (13) 13
multidisciplinary sciences (13) 13
polymorphism, single-stranded conformational (13) 13
science & technology - other topics (13) 13
analysis (12) 12
cataract - genetics (12) 12
homeodomain proteins - genetics (12) 12
mitochondrial dna (12) 12
mutation, missense (12) 12
oncology (12) 12
retinitis pigmentosa (12) 12
biophysics (11) 11
chromosome mapping (11) 11
gene expression (11) 11
genetic testing (11) 11
science (11) 11
asian continental ancestry group (10) 10
blindness (10) 10
dna (10) 10
genes, recessive (10) 10
membrane proteins - genetics (10) 10
polymorphism, single nucleotide (10) 10
apoptosis (9) 9
biomedicine (9) 9
cataracts (9) 9
exons - genetics (9) 9
eye proteins - metabolism (9) 9
fundus oculi (9) 9
genome-wide association study (9) 9
leber congenital amaurosis - genetics (9) 9
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


British Journal of Ophthalmology, ISSN 0007-1161, 02/2016, Volume 100, Issue 2, pp. 278 - 283
Journal Article
Molecular vision, ISSN 1090-0535, 12/2017, Volume 23, pp. 1048 - 1080
Journal Article
Asia-Pacific journal of ophthalmology (Philadelphia, Pa.), ISSN 2162-0989, 07/2016, Volume 5, Issue 4, pp. 265 - 271
Journal Article
Progress in molecular biology and translational science, ISSN 1877-1173, 01/2019, Volume 161, pp. 1 - 27
Along with the molecular and functional characterization of CNGA3, knowledge about diseases associated with CNGA3 mutations has made great progress. So far,... 
Phenotype | CNGA3 | Mutation | Diagnostic guideline | Achromatopsia | Cone-rod dystrophy
Journal Article
Ophthalmic genetics, ISSN 1744-5094, 04/2020, Volume 41, Issue 3, pp. 1 - 5
Biallelic mutations in neuraminidase 1 (NEU1) are associated with cherry-red spots. Whole genome sequencing contributes to eliminating pseudo-homozygous... 
neu1 | whole genome sequencing | Large genomic deletion | cherry-red | pseudo-homozygous mutation | spot | Index Medicus
Journal Article
Ophthalmic genetics, ISSN 1381-6810, 05/2020, Volume 41, Issue 3, pp. 279 - 283
Introduction: Biallelic mutations in neuraminidase 1 (NEU1) are associated with cherry-red spots. Whole genome sequencing contributes to eliminating... 
Life Sciences & Biomedicine | Genetics & Heredity | Ophthalmology | Science & Technology
Journal Article