X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (64) 64
Book / eBook (8) 8
Publication (7) 7
Book Chapter (1) 1
Conference Proceeding (1) 1
Dissertation (1) 1
Patent (1) 1
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (42) 42
humans (41) 41
male (32) 32
female (30) 30
pedigree (24) 24
mutation (22) 22
ophthalmology (20) 20
adult (16) 16
corneal dystrophies, hereditary - genetics (15) 15
genetics & heredity (13) 13
cornea (12) 12
middle aged (12) 12
dna mutational analysis (11) 11
gene (11) 11
chromosome mapping (10) 10
genetic aspects (10) 10
aged (9) 9
corneal dystrophy (8) 8
expression (8) 8
genetic linkage (8) 8
mutations (8) 8
adolescent (7) 7
child (7) 7
corneal dystrophies, hereditary (7) 7
exons (7) 7
localization (7) 7
locus (7) 7
lod score (7) 7
molecular sequence data (7) 7
polymerase chain reaction (7) 7
research (7) 7
amino acid sequence (6) 6
corneal dystrophies, hereditary - pathology (6) 6
eye proteins - genetics (6) 6
genetic markers (6) 6
genetics (6) 6
genotype (6) 6
haplotypes (6) 6
phenotype (6) 6
abridged index medicus (5) 5
analysis (5) 5
biochemistry & molecular biology (5) 5
cornea - pathology (5) 5
dystrophy (5) 5
gene mutations (5) 5
genes, recessive (5) 5
genomics (5) 5
identification (5) 5
aged, 80 and over (4) 4
article (4) 4
base sequence (4) 4
child, preschool (4) 4
cohort studies (4) 4
cornea - abnormalities (4) 4
corneal diseases (4) 4
corneal dystrophies, hereditary - metabolism (4) 4
exons - genetics (4) 4
eye (4) 4
gene expression (4) 4
glaucoma (4) 4
glaucoma - genetics (4) 4
heredity (4) 4
human genetics (4) 4
linkage (4) 4
microsatellite repeats (4) 4
polymorphism, single nucleotide (4) 4
proteins (4) 4
risk factors (4) 4
transcription factors - genetics (4) 4
alleles (3) 3
allusions (3) 3
amino acid substitution (3) 3
betaig-h3 protein (3) 3
biology (3) 3
biomedicine (3) 3
chromosome-20 (3) 3
cloning (3) 3
czech republic (3) 3
dictionaries (3) 3
endothelium (3) 3
extracellular matrix proteins (3) 3
extracellular matrix proteins - genetics (3) 3
eye abnormalities - genetics (3) 3
eye diseases (3) 3
family (3) 3
gene mapping (3) 3
genetic diseases, x-linked - genetics (3) 3
genetic disorders (3) 3
homeodomain proteins - genetics (3) 3
hospitals (3) 3
keratan sulfate proteoglycan (3) 3
keratoconus (3) 3
keratoconus - genetics (3) 3
literature (3) 3
maps (3) 3
mortality (3) 3
mutation - genetics (3) 3
patients (3) 3
point mutation (3) 3
polymorphism, genetic (3) 3
more...
Library Location Library Location
Library Location Library Location
X
Sort by Item Count (A-Z)
Filter by Count
Robarts - Stacks (2) 2
UTL at Downsview - May be requested (2) 2
UofT at Scarborough - Stacks (2) 2
Gerstein Science - Reference (1) 1
Online Resources - Online (1) 1
Robarts - Reference (1) 1
St. Michael's College (John M. Kelly) - Reference (1) 1
Thomas Fisher Rare Book - Rare Book (1) 1
Victoria University E.J. Pratt - Reference (1) 1
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Human mutation, 2007, Volume 28, Issue 5, pp. 522 - 523
Autosomal recessive congenital hereditary endothelial dystrophy (CHED2) is a severe and rare corneal disorder that presents at birth or shortly thereafter,... 
Corneal Diseases - genetics | United States | Humans | Antiporters - genetics | Mutation | Genes, Recessive | Anion Transport Proteins - genetics | Genetic Carrier Screening | India | Index Medicus
Journal Article
Molecular Vision, ISSN 1090-0535, 10/2007, Volume 13, Issue 211-12, pp. 1887 - 1891
Journal Article
Journal Article
Nature genetics, ISSN 1061-4036, 07/2006, Volume 38, Issue 7, pp. 755 - 757
Journal Article
PLoS ONE, ISSN 1932-6203, 09/2012, Volume 7, Issue 9, pp. e45495 - e45495
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 07/2010, Volume 87, Issue 1, pp. 26 - 39
Journal Article
American Journal of Ophthalmology, ISSN 0002-9394, 01/2005, Volume 139, Issue 1, p. 192
  Purpose To identify the underlying mutations in two unrelated British families with macular corneal dystrophy (MCD) by screening the carbohydrate... 
Enzymes | Mutation
Journal Article
Journal Article