X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (27298) 27298
Publication (5283) 5283
Book Chapter (527) 527
Book / eBook (469) 469
Newsletter (434) 434
Magazine Article (200) 200
Book Review (187) 187
Reference (149) 149
Conference Proceeding (141) 141
Newspaper Article (104) 104
Government Document (85) 85
Web Resource (71) 71
Dissertation (58) 58
Trade Publication Article (23) 23
Data Set (6) 6
Streaming Video (5) 5
Paper (4) 4
Transcript (3) 3
Report (2) 2
Journal / eJournal (1) 1
Poster (1) 1
Presentation (1) 1
Video Recording (1) 1
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (18735) 18735
index medicus (14081) 14081
rare diseases (9067) 9067
male (8911) 8911
female (8800) 8800
adult (5034) 5034
middle aged (4844) 4844
rare disease (4390) 4390
article (4185) 4185
treatment outcome (3431) 3431
1523 (3290) 3290
aged (3036) 3036
diagnosis, differential (2800) 2800
surgery (2668) 2668
rare earth metals (2490) 2490
follow-up studies (2230) 2230
research (2142) 2142
diagnosis (2141) 2141
child (2010) 2010
risk assessment (1855) 1855
analysis (1834) 1834
white (1824) 1824
adolescent (1804) 1804
genetics & heredity (1782) 1782
care and treatment (1710) 1710
patients (1617) 1617
rare (1610) 1610
tomography, x-ray computed (1565) 1565
tumors (1526) 1526
magnetic resonance imaging (1522) 1522
mutation (1493) 1493
cancer (1454) 1454
disease (1446) 1446
rare diseases - diagnosis (1431) 1431
medicine & public health (1423) 1423
animals (1419) 1419
europe (1398) 1398
pediatrics (1349) 1349
oncology (1305) 1305
young adult (1296) 1296
immunohistochemistry (1293) 1293
medicine (1268) 1268
genetics (1241) 1241
risk factors (1232) 1232
radiology, nuclear medicine & medical imaging (1196) 1196
rare variants (1124) 1124
child, preschool (1070) 1070
prognosis (1038) 1038
health aspects (1028) 1028
aged, 80 and over (1016) 1016
biopsy, needle (999) 999
genetic aspects (995) 995
severity of illness index (987) 987
children (986) 986
cardiac & cardiovascular systems (977) 977
infant (956) 956
biopsy (955) 955
medicine, general & internal (937) 937
medical research (929) 929
rare diseases - therapy (916) 916
dermatology (906) 906
abridged index medicus (886) 886
management (885) 885
case studies (881) 881
asia (870) 870
retrospective studies (861) 861
infant, newborn (834) 834
genomics (825) 825
medicine, research & experimental (825) 825
abdomen (807) 807
diseases (803) 803
genes (789) 789
phenotype (789) 789
usage (776) 776
magnetic resonance imaging - methods (768) 768
medical imaging (749) 749
case report (738) 738
rare diseases - drug therapy (725) 725
chemotherapy (720) 720
respiratory system (716) 716
studies (716) 716
pathology (715) 715
genetic predisposition to disease (713) 713
tomography, x-ray computed - methods (711) 711
metastasis (709) 709
mortality (687) 687
medicine, experimental (686) 686
clinical neurology (685) 685
rare diseases - pathology (684) 684
mutations (678) 678
31-50 years (667) 667
genomes (665) 665
51-70 years (660) 660
rare diseases - genetics (654) 654
pregnancy (653) 653
genome-wide association (652) 652
genetic variation (642) 642
biochemistry & molecular biology (638) 638
pain (635) 635
internal medicine (630) 630
more...
Library Location Library Location
Library Location Library Location
X
Sort by Item Count (A-Z)
Filter by Count
Gerstein Science - Stacks (102) 102
UTL at Downsview - May be requested (94) 94
Robarts - Stacks (79) 79
Online Resources - Online (72) 72
Thomas Fisher Rare Book - Rare Book (45) 45
Royal Ontario Museum - Stacks (35) 35
St. Michael's College (John M. Kelly) - 2nd Floor (29) 29
UofT at Mississauga - Stacks (27) 27
Massey College (Robertson Davies) - Rare Book (24) 24
Collection Dvlpm't (Acquisitions) - Vendor file (19) 19
Thomas Fisher Rare Book - Reference (19) 19
UofT at Scarborough - Stacks (18) 18
Pontifical Inst. Mediaeval Studies - Library use only (17) 17
Earth Sciences (Noranda) - Stacks (15) 15
Victoria University E.J. Pratt - Stacks (12) 12
Trinity College (John W Graham) - Stacks (10) 10
Victoria University CRRS - Library use only (10) 10
Collection Dvlpm't (Acquisitions) - Closed Orders (9) 9
Faculty of Information - Stacks (9) 9
Victoria University E.J. Pratt - Reference (8) 8
Trinity College (John W Graham) - Storage (7) 7
Royal Ontario Museum - Far Eastern (4) 4
Royal Ontario Museum - Reference (4) 4
Earth Sciences (Noranda) - Reference (3) 3
Trinity College (John W Graham) - Reference (3) 3
UofT at Scarborough - May be requested in 6-10 wks (3) 3
Art - Library use only (2) 2
Earth Sciences (Noranda) - Missing (2) 2
Engineering & Comp. Sci. - Stacks (2) 2
Law (Bora Laskin) - Stacks (2) 2
OISE - Curriculum Resources (2) 2
OISE - Reference (2) 2
Robarts - May be requested in 6-10 wks (2) 2
Robarts - Storage (2) 2
Royal Ontario Museum - Periodical Stacks (2) 2
Scarborough Hospital - Online (2) 2
St. Michael's Hospital - Stacks (2) 2
Sunnybrook Health Sciences Centre - Sunnybrook Stacks (2) 2
Thomas Fisher Rare Book - Processing (2) 2
UofT at Scarborough - Withdrawn (2) 2
Art - May be requested in 6-10 wks (1) 1
Baycrest Hospital - Resident/Client Library (1) 1
Chemistry (A D Allen) - Stacks (1) 1
Dentistry (Harry R Abbott) - Downsview (1) 1
Dentistry (Harry R Abbott) - Stacks (1) 1
Dentistry (Harry R Abbott) - Withdrawn (1) 1
Faculty of Information - Cook Bibliographic Control (1) 1
Faculty of Information - May be requested in 6-10 wks (1) 1
Faculty of Information - Special Collections (1) 1
Gerstein Science - Reference (1) 1
Holland Bloorview Kids Rehabilitation - Stacks (1) 1
Knox College (Caven) - Stacks (1) 1
Lakeridge Health Sciences - Oshawa (1) 1
Markham Stouffville Hospital - Stacks (1) 1
Media Commons - Audio Visual (1) 1
Mt Sinai Hospital - Online (1) 1
OISE - WERC (1) 1
Physics - Stacks (1) 1
Regis College - Stacks (1) 1
Robarts - Rare Book (1) 1
Robarts - Reference (1) 1
Royal Ontario Museum - Canadiana Rare (1) 1
Royal Ontario Museum - Far Eastern West Asian (1) 1
Royal Ontario Museum - Pamphlets (1) 1
Scarborough Hospital - General (1) 1
St. Augustine's Seminary - Stacks (1) 1
St. Michael's College (John M. Kelly) - Reference (1) 1
Sunnybrook Health Sciences Centre - Stacks (1) 1
Thomas Fisher Rare Book - May be requested at Fisher (1) 1
Toronto East General Hospital - Stacks (1) 1
University College (Laidlaw) - May be requested in 6-10 wks (1) 1
University College (Laidlaw) - Stacks (1) 1
Victoria University CRRS - May be requested (1) 1
Victoria University E.J. Pratt - Internal dept (1) 1
Victoria University E.J. Pratt - Library use only (1) 1
Victoria University E.J. Pratt - Rare Book (1) 1
Victoria University E.J. Pratt - Storage (1) 1
Victoria University Emmanuel College - Stacks (1) 1
more...
Language Language
Language Language
X
Sort by Item Count (A-Z)
Filter by Count
English (26945) 26945
French (700) 700
German (700) 700
Spanish (304) 304
Russian (114) 114
Italian (105) 105
Polish (96) 96
Chinese (78) 78
Japanese (65) 65
Portuguese (61) 61
Hungarian (54) 54
Danish (25) 25
Dutch (25) 25
Korean (25) 25
Swedish (21) 21
Czech (17) 17
Romanian (17) 17
Norwegian (16) 16
Turkish (8) 8
Hebrew (7) 7
Croatian (5) 5
Finnish (5) 5
Slovak (5) 5
Bosnian (2) 2
Latin (2) 2
Serbian (2) 2
Ukrainian (2) 2
Afrikaans (1) 1
Arabic (1) 1
Belarusian (1) 1
Georgian (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


2015, ISBN 1621821374, xix, 388 p., 12 unnumbered p.s of plates
"This book is about the struggle to save the lives of children who, because of a roll of the genetic dice, are born with any one of more than several thousand... 
Genetic disorders in children | MEDICAL / Diseases | Medical genetics | SCIENCE / Life Sciences / Genetics & Genomics | Genetic Diseases, Inborn | MEDICAL / Pediatrics | Rare Diseases | Research | Child
Book
2015, Advances in predictive, preventive and personalised medicine, ISBN 9401792135, Volume 6
Web Resource
2013, 1, ISBN 9781906093525, vi, 272
This book presents some of the latest developments in the world of rare disease entrepreneurship from a global group of experts. It examines the topic from the... 
Rare diseases | Treatment | Research | Drug development | Social entrepreneurship | Corporate Social Responsibility & Business Ethics | Environment & Business | Orphan Drug Production | Europe | Entrepreneurship | Organization & administration | Drug therapy | Methods
Book
2015, Advances in predictive, preventive, and personalised medicine, ISBN 9401792135, Volume 6
Web Resource
2010, Advances in experimental medicine and biology, ISBN 9048194857, Volume 686, xxii, 542
This inclusive text is the first publication to address rare diseases as a public health problem. The work analyzes the constraints on epidemiological research... 
Rare diseases | Epidemiology
Book
2013, Public health in the 21st century, ISBN 9781629485263
Web Resource
Matrix Biology, ISSN 0945-053X, 01/2017, Volume 57-58, pp. 124 - 139
For most disorders caused by mutations in genes encoding basement membrane (BM) proteins, there are at present only limited treatment options available.... 
Rare diseases | Therapy | Skin | Muscle | Kidney | Basement membrane | CONGENITAL MUSCULAR-DYSTROPHY | BIOCHEMISTRY & MOLECULAR BIOLOGY | BONE-MARROW | ALPHA-3 CHAIN GENE | CELL BIOLOGY | PLURIPOTENT STEM-CELLS | FRASER-SYNDROME | MESENCHYMAL STROMAL CELLS | CLINICAL-TRIALS | MOUSE MODEL | VII COLLAGEN | DYSTROPHIC EPIDERMOLYSIS-BULLOSA | Brain Diseases - metabolism | Cell- and Tissue-Based Therapy - methods | Fibroblasts - transplantation | Heart Diseases - metabolism | Humans | Extracellular Matrix - metabolism | Skin Diseases - pathology | Basement Membrane - pathology | Stem Cell Transplantation | Mesenchymal Stromal Cells - cytology | Brain Diseases - therapy | Keratinocytes - transplantation | Induced Pluripotent Stem Cells - cytology | Eye Diseases - pathology | Fibroblasts - metabolism | Induced Pluripotent Stem Cells - metabolism | Kidney Diseases - metabolism | Skin Diseases - therapy | Skin Diseases - metabolism | Kidney Diseases - pathology | Muscular Diseases - metabolism | Induced Pluripotent Stem Cells - transplantation | Mesenchymal Stromal Cells - metabolism | Eye Diseases - metabolism | Keratinocytes - cytology | Muscular Diseases - pathology | Basement Membrane - metabolism | Brain Diseases - pathology | Heart Diseases - therapy | Keratinocytes - metabolism | Kidney Diseases - therapy | Fibroblasts - cytology | Extracellular Matrix - pathology | Muscular Diseases - therapy | Heart Diseases - pathology | Eye Diseases - therapy | Proteins | Bone marrow | Transplantation | Hematopoietic stem cells
Journal Article
2012, 6th ed., ISBN 1437727875, xviii, 641
Your awareness of uncommon diseases and possible complications is vital to successful anesthetic patient management. Anesthesia and Uncommon Diseases, 6th... 
Anesthesia | Rare Diseases | Rare diseases
Book
Web Resource
Pediatric Rheumatology, ISSN 1546-0096, 06/2016, Volume 14, Issue 1, p. 35
Defective regulation of type I interferon response is associated with severe inflammatory phenotypes and autoimmunity. Type I interferonopathies are a... 
CANDLE | Type I interferonopathies | Familial lupus | Type I interferon | Aicardi-Goutières syndrome | SAVI | ALPHA MONOCLONAL-ANTIBODY | SYSTEMIC-LUPUS-ERYTHEMATOSUS | HYPER-GAMMA-GLOBULINEMIA | RHEUMATOLOGY | MUSCULAR-ATROPHY | AICARDI-GOUTIERES-SYNDROME | FAMILIAL CHILBLAIN LUPUS | Aicardi-Goutieres syndrome | DNA EXONUCLEASE TREX1 | PROTEASOME SUBUNIT | PEDIATRICS | PHASE-I | IFN-ALPHA | Proteome - genetics | Nervous System Malformations - immunology | Rare Diseases - immunology | Humans | Vascular Calcification - genetics | Rare Diseases - diagnosis | Arthritis, Juvenile - diagnosis | Metacarpus - abnormalities | Interferon Type I - immunology | Mutation - immunology | Autoimmune Diseases - genetics | Osteochondrodysplasias - genetics | Proteome - immunology | Lupus Erythematosus, Systemic - immunology | Osteoporosis - genetics | Autoimmune Diseases of the Nervous System - diagnosis | Metacarpus - immunology | Osteochondrodysplasias - immunology | Osteoporosis - immunology | Signal Transduction | Vascular Calcification - immunology | Aortic Diseases - immunology | Autoimmune Diseases - immunology | Autoimmune Diseases - diagnosis | Mutation - genetics | Odontodysplasia - immunology | Lupus Erythematosus, Systemic - diagnosis | Autoimmune Diseases of the Nervous System - immunology | Dental Enamel Hypoplasia - immunology | Homozygote | Aortic Diseases - genetics | Muscular Diseases - immunology | Rare Diseases - therapy | Arthritis, Juvenile - immunology | Lupus Erythematosus, Systemic - genetics | Nervous System Malformations - diagnosis | Autoimmune Diseases - therapy | Interferon Type I - genetics | Odontodysplasia - genetics | Muscular Diseases - genetics | Dental Enamel Hypoplasia - genetics | Systemic lupus erythematosus | Rheumatic diseases | Practice | Interferon | Research | Children | Rheumatologists | Health aspects | Risk factors
Journal Article
Osteoporosis International, ISSN 0937-941X, 10/2015, Volume 26, Issue 10, pp. 2529 - 2558
Journal Article
2006, 5th ed., ISBN 1416022120, xiv, 658
Avoid complications associated with unusual and complicated diseases with help from the new edition of this classic source! Previously edited by Dr. Jonathan... 
Rare diseases | Anesthesia | Disease | Pathophysiology | Complications | Surgery
Book
Journal of the American Academy of Dermatology, ISSN 0190-9622, 11/2017, Volume 77, Issue 5, pp. 809 - 830
The oral cavity and cutaneous organ systems share a close embryologic origin. Therefore, there are numerous dermatologic conditions presenting with concomitant... 
amyloidosis | genodermatoses | inflammatory | sclerosis complex | tuberous erythema multiforme | sarcoidosis | cutaneous manifestations | Darier disease | lichen planus | orocutaneous diseases | Peutz-Jeghers syndrome | Behcet disease | nevoid basal cell carcinoma syndrome | oral cavity | burning mouth syndrome | ERYTHEMA MULTIFORME | CELL CARCINOMA SYNDROME | ORAL LICHEN-PLANUS | DERMATOLOGY | PAPILLON-LEFEVRE-SYNDROME | TUBEROUS SCLEROSIS | CUTANEOUS SARCOIDOSIS | DARIERS-DISEASE | ECCRINE SQUAMOUS SYRINGOMETAPLASIA | NECROTIZING SIALOMETAPLASIA | Education, Medical, Continuing | Prognosis | Skin Diseases - genetics | Humans | Genetic Diseases, Inborn - genetics | Male | Genetic Diseases, Inborn - epidemiology | Incidence | Darier Disease - epidemiology | Mouth Diseases - epidemiology | Darier Disease - genetics | Skin Diseases - physiopathology | Female | Skin Diseases - epidemiology | Genetic Predisposition to Disease - epidemiology | Mouth Mucosa - pathology | Mouth Diseases - physiopathology | Epidermis - pathology | Risk Assessment | Tuberous Sclerosis - epidemiology | Darier Disease - physiopathology | Rare Diseases | Skin Neoplasms - epidemiology | Skin Neoplasms - physiopathology | Tuberous Sclerosis - genetics | Skin Neoplasms - genetics | Tuberous Sclerosis - physiopathology | Genetic Diseases, Inborn - physiopathology | Mouth Diseases - genetics | Medical colleges | Continuing medical education | Skin cancer
Journal Article
The Lancet, ISSN 0140-6736, 10/2017, Volume 390, Issue 10104, pp. 1758 - 1768