X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (2571) 2571
Book Review (794) 794
Publication (387) 387
Newspaper Article (104) 104
Book Chapter (75) 75
Book / eBook (52) 52
Conference Proceeding (9) 9
Streaming Video (1) 1
Trade Publication Article (1) 1
Web Resource (1) 1
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (2230) 2230
humans (2007) 2007
glycosylation (923) 923
mutation (912) 912
female (753) 753
male (728) 728
animals (703) 703
genetics & heredity (642) 642
genetic disorders (537) 537
biochemistry & molecular biology (447) 447
proteins (444) 444
genetic aspects (427) 427
congenital diseases (397) 397
phenotype (390) 390
child (387) 387
mutations (380) 380
infant (373) 373
pediatrics (364) 364
child, preschool (341) 341
congenital disorders of glycosylation - genetics (337) 337
genetics (298) 298
mice (293) 293
gene (292) 292
article (287) 287
analysis (279) 279
clinical neurology (277) 277
research (275) 275
congenital disorders (269) 269
neurosciences (267) 267
cell biology (253) 253
adult (252) 252
diagnosis (249) 249
adolescent (248) 248
disease (248) 248
genes (237) 237
infant, newborn (235) 235
congenital, hereditary, and neonatal diseases and abnormalities (233) 233
molecular sequence data (224) 224
endocrinology & metabolism (216) 216
physiological aspects (211) 211
congenital disorders of glycosylation (209) 209
congenital muscular-dystrophy (201) 201
medicine, research & experimental (197) 197
congenital disorders of glycosylation - diagnosis (195) 195
muscular dystrophy (195) 195
alpha-dystroglycan (191) 191
medicine (191) 191
amino acid sequence (183) 183
deficiency (174) 174
pedigree (172) 172
neurology (166) 166
gene mutations (162) 162
medicine & public health (160) 160
health aspects (158) 158
muscular dystrophies - genetics (155) 155
dna mutational analysis (149) 149
research article (145) 145
abridged index medicus (143) 143
mutation - genetics (143) 143
walker-warburg-syndrome (143) 143
cdg (142) 142
congenital disorder (142) 142
membrane proteins - genetics (138) 138
expression (137) 137
enzymes (136) 136
multidisciplinary sciences (136) 136
defects (133) 133
transferrin (132) 132
n-glycosylation (130) 130
endoplasmic-reticulum (127) 127
glycoproteins (127) 127
patients (127) 127
congenital disorders of glycosylation - metabolism (126) 126
genotype (126) 126
magnetic resonance imaging (125) 125
dystroglycan (121) 121
deficient glycoprotein syndrome (118) 118
base sequence (117) 117
dystroglycans - metabolism (117) 117
identification (117) 117
phosphotransferases - genetics (117) 117
children (116) 116
gene expression (116) 116
disease models, animal (115) 115
internal medicine (114) 114
protein (114) 114
carbohydrates (112) 112
human genetics (111) 111
pathology (111) 111
syndrome (111) 111
young adult (111) 111
pregnancy (110) 110
disorders (109) 109
genetic research (108) 108
care and treatment (106) 106
metabolic diseases (106) 106
review (105) 105
biology (104) 104
lipids (104) 104
mutation, missense (102) 102
more...
Library Location Library Location
Library Location Library Location
X
Sort by Item Count (A-Z)
Filter by Count
Gerstein Science - Stacks (35) 35
Holland Bloorview Kids Rehabilitation - Stacks (4) 4
UTL at Downsview - May be requested (4) 4
UofT at Mississauga - Stacks (3) 3
Collection Dvlpm't (Acquisitions) - Vendor file (2) 2
Sunnybrook Health Sciences Centre - Sunnybrook Stacks (2) 2
Credit Valley Hospital - Missing (1) 1
Dentistry (Harry R Abbott) - Withdrawn (1) 1
Lakeridge Health Sciences - Oshawa (1) 1
Online Resources - Online (1) 1
Scarborough Hospital - General (1) 1
St Josephs Health Centre - Stacks (1) 1
St. Michael's Hospital - Stacks (1) 1
Women's College Hospital - Stacks (1) 1
more...
Language Language
Language Language
X
Sort by Item Count (A-Z)
Filter by Count
English (2724) 2724
French (11) 11
Spanish (10) 10
Japanese (7) 7
German (4) 4
Polish (3) 3
Portuguese (3) 3
Turkish (3) 3
Czech (2) 2
Swedish (2) 2
Chinese (1) 1
Finnish (1) 1
Hebrew (1) 1
Korean (1) 1
more...
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 12/2015, Volume 97, Issue 6, pp. 894 - 903
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 07/2014, Volume 95, Issue 1, pp. 96 - 107
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 04/2014, Volume 370, Issue 17, pp. 1615 - 1625
Journal Article
Journal Article
PLoS Genetics, ISSN 1553-7390, 2013, Volume 9, Issue 12, pp. e1003989 - e1003989
Journal Article
Journal of Cell Science, ISSN 0021-9533, 2017, Volume 130, Issue 21, pp. 3637 - 3649
Congenital disorders of glycosylation (CDG) comprise a family of human multisystemic diseases caused by recessive mutations in genes required for protein... 
GOLPH3 | Glycosylation | Golgi | COG7 | Drosophila | MEIOTIC CYTOKINESIS | NERVOUS-SYSTEM | GLYCANS | OLIGOMERIC GOLGI-COMPLEX | MEMBRANE TRAFFICKING | CELL BIOLOGY | PHOSPHOPROTEIN 3 | CONGENITAL DISORDERS | DISEASE-MODEL | GLYCOSYLTRANSFERASES | NEUROMUSCULAR SYNAPTOGENESIS | Oncogene Proteins - genetics | Neuromuscular Junction - metabolism | Humans | rab GTP-Binding Proteins - genetics | Gait Disorders, Neurologic - genetics | Golgi Apparatus - pathology | Drosophila Proteins - metabolism | Drosophila melanogaster - genetics | Genetic Complementation Test | Congenital Disorders of Glycosylation - pathology | Drosophila melanogaster - metabolism | Mannose - metabolism | Biological Transport | Gene Expression Regulation, Developmental | Gene Deletion | Larva - growth & development | Gait Disorders, Neurologic - pathology | Larva - genetics | Congenital Disorders of Glycosylation - genetics | Neuromuscular Junction - pathology | Disease Models, Animal | rab GTP-Binding Proteins - metabolism | Larva - metabolism | Vesicular Transport Proteins - genetics | Oncogene Proteins - metabolism | Congenital Disorders of Glycosylation - metabolism | Polysaccharides - metabolism | Gait Disorders, Neurologic - metabolism | Phenotype | Animals | Vesicular Transport Proteins - deficiency | Drosophila Proteins - deficiency | Drosophila melanogaster - growth & development | Golgi Apparatus - metabolism | Protein Processing, Post-Translational | Drosophila Proteins - genetics | Congenital diseases | Trafficking | Disorders | Tethering | Cytokinesis | Mutants | Golgi apparatus | Insects | Neurological complications | Neuromuscular junctions | Mutation | Auditory defects | Index Medicus
Journal Article