X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (16766) 16766
Publication (1224) 1224
Book / eBook (370) 370
Book Chapter (324) 324
Book Review (185) 185
Conference Proceeding (26) 26
Web Resource (14) 14
Dissertation (13) 13
Magazine Article (13) 13
Newsletter (11) 11
Data Set (2) 2
Government Document (2) 2
Journal / eJournal (1) 1
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (12325) 12325
female (8109) 8109
male (6510) 6510
index medicus (5963) 5963
adult (3462) 3462
malformations (3261) 3261
child (2905) 2905
infant, newborn (2845) 2845
pediatrics (2680) 2680
pregnancy (2606) 2606
infant (2578) 2578
clinical neurology (2477) 2477
surgery (2451) 2451
genetics & heredity (2431) 2431
child, preschool (2261) 2261
adolescent (2211) 2211
magnetic resonance imaging (2143) 2143
syndrome (2049) 2049
middle aged (1545) 1545
diagnosis (1467) 1467
children (1434) 1434
animals (1291) 1291
retrospective studies (1127) 1127
phenotype (1066) 1066
mutation (1064) 1064
abnormalities (1035) 1035
risk factors (1020) 1020
malformation (1009) 1009
neurosciences (944) 944
tomography, x-ray computed (944) 944
anomalies (943) 943
diagnosis, differential (926) 926
obstetrics & gynecology (923) 923
research (915) 915
radiology, nuclear medicine & medical imaging (899) 899
treatment outcome (895) 895
abnormalities, multiple - genetics (868) 868
genetic disorders (792) 792
mutations (785) 785
management (752) 752
young adult (741) 741
care and treatment (729) 729
prevalence (728) 728
medicine & public health (727) 727
congenital malformations (724) 724
aged (700) 700
brain (687) 687
vascular malformations (686) 686
genetics (675) 675
follow-up studies (668) 668
prenatal diagnosis (659) 659
infants (629) 629
article (620) 620
birth defects (620) 620
health aspects (619) 619
genetic aspects (614) 614
pedigree (608) 608
disease (603) 603
cardiac & cardiovascular systems (602) 602
radiography (602) 602
defects (592) 592
epilepsy (592) 592
case report (569) 569
mice (564) 564
gene (544) 544
medicine (531) 531
patients (528) 528
congenital-malformations (517) 517
arteriovenous malformation (512) 512
classification (512) 512
ultrasonography, prenatal (500) 500
analysis (495) 495
neurology (481) 481
medicine, general & internal (478) 478
abnormalities, multiple - diagnosis (460) 460
brain - pathology (460) 460
genes (454) 454
pathology (451) 451
abridged index medicus (445) 445
brain - abnormalities (432) 432
congenital heart disease (430) 430
risk (423) 423
association (413) 413
abnormalities, multiple - pathology (411) 411
prenatal-diagnosis (404) 404
gestational age (389) 389
prognosis (388) 388
epidemiology (385) 385
neurosurgery (383) 383
arteriovenous malformations - diagnosis (382) 382
fetus (380) 380
ultrasonography (380) 380
ultrasound (379) 379
dandy-walker malformation (375) 375
arteriovenous malformations (370) 370
arteriovenous malformations - complications (368) 368
developmental biology (363) 363
chromosome deletion (361) 361
karyotyping (361) 361
neuroimaging (361) 361
more...
Library Location Library Location
Library Location Library Location
X
Sort by Item Count (A-Z)
Filter by Count
Gerstein Science - Stacks (230) 230
UTL at Downsview - May be requested (26) 26
UofT at Mississauga - Stacks (16) 16
Collection Dvlpm't (Acquisitions) - Vendor file (13) 13
Holland Bloorview Kids Rehabilitation - Stacks (12) 12
Dentistry (Harry R Abbott) - Stacks (11) 11
Robarts - Stacks (10) 10
Online Resources - Online (9) 9
Collection Dvlpm't (Acquisitions) - Closed Orders (8) 8
Sunnybrook Health Sciences Centre - Sunnybrook Stacks (8) 8
Dentistry (Harry R Abbott) - May be requested in 6-10 wks (6) 6
Dentistry (Harry R Abbott) - Withdrawn (5) 5
Scarborough Hospital - General (5) 5
Credit Valley Hospital - Reserve desk (3) 3
OISE - Stacks (3) 3
St. Michael's Hospital - Stacks (3) 3
Earth Sciences (Noranda) - Stacks (2) 2
Humber River Regional Hospital - Finch Stacks (2) 2
Lakeridge Health Sciences - Oshawa (2) 2
New College (Ivey) - Stacks (2) 2
St. Michael's College (John M. Kelly) - 2nd Floor (2) 2
Toronto East General Hospital - Stacks (2) 2
Trinity College (John W Graham) - Stacks (2) 2
UofT at Scarborough - Stacks (2) 2
Victoria University E.J. Pratt - Stacks (2) 2
Credit Valley Hospital - Stacks (1) 1
Gerstein Science - Missing (1) 1
Holland Bloorview Kids Rehabilitation - Reference (1) 1
Humber River Regional Hospital - Church Stacks (1) 1
Knox College (Caven) - Stacks (1) 1
Law (Bora Laskin) - Stacks (1) 1
OISE - Missing (1) 1
Robarts - Course Reserves (1) 1
Robarts - Not Returned (1) 1
Royal Ontario Museum - Stacks (1) 1
Scarborough Hospital - Birchmount (1) 1
St Josephs Health Centre - Stacks (1) 1
St. Augustine's Seminary - Stacks (1) 1
Sunnybrook Health Sciences Centre - Online (1) 1
Sunnybrook Health Sciences Centre - Sunnybrook Reference (1) 1
Trillium Health Centre - Reserve desk (1) 1
University College (Laidlaw) - Stacks (1) 1
UofT at Scarborough - May be requested in 6-10 wks (1) 1
Victoria University E.J. Pratt - Oversize (1) 1
West Park Healthcare Centre - Stacks (1) 1
more...
Language Language
Language Language
X
Sort by Item Count (A-Z)
Filter by Count
English (15897) 15897
French (438) 438
German (406) 406
Spanish (267) 267
Japanese (146) 146
Polish (78) 78
Russian (59) 59
Portuguese (42) 42
Korean (39) 39
Italian (31) 31
Chinese (17) 17
Czech (17) 17
Arabic (8) 8
Hungarian (8) 8
Turkish (8) 8
Danish (6) 6
Dutch (6) 6
Swedish (6) 6
Croatian (5) 5
Slovak (4) 4
Serbian (3) 3
Ukrainian (3) 3
Romanian (2) 2
Bengali (1) 1
Catalan (1) 1
Greek (1) 1
Lithuanian (1) 1
more...
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Current Opinion in Genetics & Development, ISSN 0959-437X, 2009, Volume 19, Issue 3, pp. 230 - 236
Journal Article
Journal Article
European Journal of Pediatrics, ISSN 0340-6199, 9/2012, Volume 171, Issue 9, pp. 1285 - 1300
Cilia are antenna-like organelles found on the surface of most cells. They transduce molecular signals and facilitate interactions between cells and their... 
Pediatrics | ARPKD | Jeune syndrome (ATD) | Joubert syndrome (JBTS) | Oligogenic inheritance | Mutational load | Congenital hepatic fibrosis/ductal plate malformation | Cystic kidneys | von Hippel-Lindau (VHL) | Cilia/ciliopathies | Sensenbrenner syndrome | Nephronophthisis (NPHP) | Short-rib polydactyly syndromes | Meckel syndrome (MKS) | ADPKD | Medicine & Public Health | Ellis-van Crefeld syndrome (EVC) | Bardet–Biedl syndrome (BBS) | Alstrom syndrome | Primary ciliary dyskinesia (Kartagener syndrome) | Tuberous sclerosis (TSC) | Ivemark syndrome | Modifier | Polycystic kidney disease | Von Hippel-Lindau (VHL) | Bardet-Biedl syndrome (BBS) | Ellis-Van Crefeld syndrome (EVC) | CLINICAL-TRIAL | HEPATIC CYSTS | GROWTH | BARDET-BIEDL-SYNDROME | PEDIATRICS | MUTATIONS | POLYCYSTIC KIDNEY-DISEASE | MECHANISMS | PRIMARY CILIUM | GENE | LONG-ACTING SOMATOSTATIN | Short Rib-Polydactyly Syndrome - diagnosis | Kidney Diseases, Cystic - diagnosis | Kidney Diseases, Cystic - physiopathology | Ciliary Motility Disorders - physiopathology | Genetic Testing | Humans | Bardet-Biedl Syndrome - therapy | Short Rib-Polydactyly Syndrome - genetics | Bardet-Biedl Syndrome - physiopathology | Short Rib-Polydactyly Syndrome - therapy | Short Rib-Polydactyly Syndrome - physiopathology | Bardet-Biedl Syndrome - diagnosis | Kidney Diseases, Cystic - genetics | Bardet-Biedl Syndrome - genetics | Ciliary Motility Disorders - diagnosis | Kidney Diseases, Cystic - therapy | Ciliary Motility Disorders - therapy | Ciliary Motility Disorders - genetics | Genes | Medical genetics | Tuberous sclerosis | Diabetes | Kidney diseases | Mental illness | Cells | ductal plate malformation | Review | Congenital hepatic fibrosis | Cilia | ciliopathies
Journal Article
PLoS Genetics, ISSN 1553-7390, 09/2009, Volume 5, Issue 9, p. e1000650
Cornelia de Lange Syndrome (CdLS) is a multi-organ system birth defects disorder linked, in at least half of cases, to heterozygous mutations in the NIPBL... 
SISTER-CHROMATID COHESION | CONTROL REGION | ENHANCER-BLOCKING ACTIVITY | NIPPED-B | CONGENITAL HEART-DISEASE | GENETICS & HEREDITY | GENE-EXPRESSION | ADIPOCYTE DIFFERENTIATION | OPHTHALMOLOGIC FINDINGS | BRACHMANN-DELANGE SYNDROME | MICE LACKING | Bone and Bones - pathology | Cadherins - metabolism | Craniofacial Abnormalities - physiopathology | Heart Defects, Congenital - genetics | Organ Specificity - genetics | Nervous System Malformations - physiopathology | Sister Chromatid Exchange | Craniofacial Abnormalities - pathology | Transcription, Genetic | Cadherins - genetics | Nervous System Malformations - genetics | Craniofacial Abnormalities - complications | Craniofacial Abnormalities - genetics | De Lange Syndrome - genetics | Disease Models, Animal | Animals, Newborn | Embryo, Mammalian - pathology | De Lange Syndrome - physiopathology | Gene Expression Regulation | Heart Defects, Congenital - pathology | Bone Development | Transcription Factors - genetics | Mutation - genetics | Embryo, Mammalian - abnormalities | Phenotype | Animals | Heart Defects, Congenital - complications | Nervous System Malformations - complications | Survival Analysis | De Lange Syndrome - complications | Heterozygote | Heart Defects, Congenital - physiopathology | Mice | Bone and Bones - abnormalities | De Lange Syndrome - pathology | Proteins | Video recordings | Colleges & universities | Birth defects | Mutation | Behavior | Experiments | Chromosomes | DNA repair
Journal Article
Nature Reviews Immunology, ISSN 1474-1733, 07/2015, Volume 15, Issue 7, pp. 429 - 440
Journal Article