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

Search Articles

X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (18424) 18424
Book / eBook (415) 415
Newsletter (242) 242
Newspaper Article (240) 240
Magazine Article (203) 203
Book Chapter (148) 148
Web Resource (34) 34
Reference (23) 23
Dissertation (22) 22
Conference Proceeding (20) 20
Book Review (19) 19
Government Document (10) 10
Journal / eJournal (6) 6
Streaming Video (6) 6
Trade Publication Article (3) 3
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (16120) 16120
science & technology (12473) 12473
life sciences & biomedicine (12046) 12046
female (7895) 7895
male (6515) 6515
genetics & heredity (5216) 5216
mutation (3962) 3962
pediatrics (3826) 3826
child (3406) 3406
genetic diseases, inborn - diagnosis (3247) 3247
infant, newborn (3127) 3127
adult (3079) 3079
infant (2685) 2685
medicine, research & experimental (2635) 2635
research & experimental medicine (2631) 2631
child, preschool (2603) 2603
genetics (2568) 2568
medicine & public health (2456) 2456
pregnancy (2436) 2436
genetic aspects (2374) 2374
endocrinology & metabolism (2323) 2323
genetic diseases, inborn - genetics (2297) 2297
adolescent (2195) 2195
internal medicine (2194) 2194
human genetics (2177) 2177
research (1832) 1832
metabolic diseases (1824) 1824
genetic disorders (1820) 1820
prenatal diagnosis (1792) 1792
animals (1686) 1686
phenotype (1676) 1676
biochemistry, general (1630) 1630
diagnosis (1557) 1557
analysis (1480) 1480
genetic testing (1458) 1458
genetic counseling (1434) 1434
abridged index medicus (1429) 1429
middle aged (1339) 1339
genetic diseases, inborn (1324) 1324
genes (1261) 1261
pedigree (1201) 1201
neurosciences & neurology (1184) 1184
risk factors (1154) 1154
enzymes (1130) 1130
medicine (1128) 1128
metabolism, inborn errors - diagnosis (1051) 1051
bioethics (1015) 1015
health aspects (1001) 1001
clinical neurology (998) 998
dna mutational analysis (967) 967
genetic predisposition to disease (956) 956
genotype (951) 951
metabolism, inborn errors - genetics (950) 950
medical genetics (933) 933
physiological aspects (929) 929
metabolism (917) 917
children (907) 907
patients (904) 904
young adult (893) 893
genetic research (869) 869
medical research (819) 819
diagnosis, differential (805) 805
care and treatment (794) 794
genetic screening (778) 778
genomics (757) 757
heterozygote (744) 744
biochemistry & molecular biology (720) 720
disease (695) 695
general & internal medicine (691) 691
infants (686) 686
medicine, general & internal (679) 679
gene mutations (668) 668
magnetic resonance imaging (660) 660
proteins (647) 647
neurosciences (639) 639
medical screening (632) 632
syndrome (625) 625
retrospective studies (614) 614
medicine, experimental (603) 603
research article (603) 603
diseases (593) 593
mutation - genetics (590) 590
aged (586) 586
base sequence (579) 579
amino acid metabolism, inborn errors - genetics (573) 573
treatment outcome (569) 569
polymerase chain reaction (547) 547
genomes (546) 546
obstetrics & gynecology (544) 544
immunology (542) 542
neurology (539) 539
metabolic disorders (538) 538
united states (538) 538
alleles (525) 525
genetic diseases, inborn - prevention & control (520) 520
mice (510) 510
genetic diseases, inborn - therapy (509) 509
biomedicine (508) 508
risk assessment (507) 507
homozygote (503) 503
more...
Library Location Library Location
Library Location Library Location
X
Sort by Item Count (A-Z)
Filter by Count
Gerstein Science - Stacks (214) 214
Online Resources - Online (42) 42
UofT at Mississauga - Stacks (42) 42
Collection Dvlpm't (Acquisitions) - Vendor file (32) 32
St. Michael's College (John M. Kelly) - 2nd Floor (25) 25
UofT at Scarborough - Stacks (24) 24
UTL at Downsview - May be requested (22) 22
Collection Dvlpm't (Acquisitions) - Closed Orders (15) 15
Robarts - Stacks (15) 15
Law (Bora Laskin) - Stacks (11) 11
St. Augustine's Seminary - Stacks (10) 10
New College (Ivey) - Stacks (8) 8
Victoria University E.J. Pratt - Stacks (8) 8
Sunnybrook Health Sciences Centre - Sunnybrook Stacks (7) 7
Trinity College (John W Graham) - Stacks (7) 7
OISE - Stacks (6) 6
Regis College - Stacks (6) 6
Victoria University Emmanuel College - Stacks (3) 3
Dentistry (Harry R Abbott) - Stacks (2) 2
Engineering & Comp. Sci. - Stacks (2) 2
Gerstein Science - Bindery (2) 2
Gerstein Science - Missing (2) 2
Gerstein Science - Periodical Stacks (2) 2
Gerstein Science - Reference (2) 2
Humber River Regional Hospital - Church Stacks (2) 2
Knox College (Caven) - Stacks (2) 2
Lakeridge Health Sciences - Oshawa (2) 2
Toronto East General Hospital - Stacks (2) 2
Trinity College (John W Graham) - Wycliffe Storage (2) 2
University College (Laidlaw) - Stacks (2) 2
UofT Schools - Stacks (2) 2
Collection Dvlpm't (Acquisitions) - Cancelled Order (1) 1
Collection Dvlpm't (Acquisitions) - Stacks (1) 1
Credit Valley Hospital - Stacks (1) 1
Criminology - Stacks (1) 1
Gerstein Science - Circulation Desk (1) 1
Holland Bloorview Kids Rehabilitation - Reference (1) 1
Holland Bloorview Kids Rehabilitation - Sunnybrook Stacks (1) 1
Markham Stouffville Hospital - Stacks (1) 1
Media Commons - Microtexts (1) 1
Mt Sinai Hospital - Pathology (1) 1
OISE - Missing (1) 1
Providence Healthcare - Stacks (1) 1
Scarborough Hospital - Birchmount (1) 1
Scarborough Hospital - General (1) 1
Scarborough Hospital - Online (1) 1
St. Michael's Hospital - Stacks (1) 1
Sunnybrook Health Sciences Centre - Online (1) 1
UofT at Scarborough - May be requested in 6-10 wks (1) 1
more...
Language Language
Language Language
X
Sort by Item Count (A-Z)
Filter by Count
English (18703) 18703
French (293) 293
German (263) 263
Spanish (176) 176
Russian (130) 130
Japanese (124) 124
Portuguese (113) 113
Chinese (70) 70
Polish (49) 49
Italian (39) 39
Czech (33) 33
Dutch (33) 33
Hungarian (29) 29
Finnish (27) 27
Danish (24) 24
Norwegian (18) 18
Swedish (18) 18
Hebrew (15) 15
Turkish (11) 11
Arabic (7) 7
Slovak (7) 7
Croatian (4) 4
Bulgarian (3) 3
Romanian (3) 3
Serbian (3) 3
Ukrainian (3) 3
Korean (2) 2
Bosnian (1) 1
more...
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


2006, STU - Student edition, In-formation series, ISBN 9780691121925, xxii, 256
...? Have the "new genetics" outpaced our ability to control their future applications? This book examines the case of preimplantation genetic diagnosis (PGD... 
Preimplantation genetic diagnosis | Preimplantation Diagnosis | Genetic Diseases, Inborn | diagnosis | Moral and ethical aspects | Social aspects | ethics | Mfn | Sociology | General | Genetics | Medical | Social Science | Jhba | Great Britain | Health Sciences | SOCIAL SCIENCE | MEDICAL
Book
2004, ISBN 0198508786, xxvii. 447
Lysosomal storage diseases are inherited metabolic disorders characterized by severe pathology, typically involving the brain... 
Brain | Lysosomal storage diseases | Treatment | Metabolism | Disorders | Disorders of the Nervous System
Book
2006, ISBN 1588296814, xi, 1076
... risk, prenatal diagnosis, and management. 
Genetic Diseases, Inborn | Genetic disorders | Genetic counseling | Diagnosis | Prenatal Diagnosis | Atlases
Book
2016, ISBN 9780807074589, 234
.... DNA testing is promising in treating serious disease, but Beijing Genomics, one of the world's largest genomics centers, is quietly developing gene tests to predict intelligence... 
Genetic Diseases, Inborn | Genetic Engineering | Genetic Testing | Genetic disorders | Genetic screening
Book
2016, ISBN 3662497697, 655
This work is recognised as the standard textbook for professionals involved in the diagnosis and management of inborn errors of metabolism (IEM... 
Neurology
eBook
2008, 1. Aufl., ISBN 3540766979, 882
This manual describes laboratory methodology for diagnosing inborn errors of metabolism... 
Metabolic diseases | Biochemistry, general | Human Genetics | Medicine | Pediatrics | Medicine & Public Health | Metabolic Diseases | Laboratory Medicine | Metabolism, Inborn errors of | Biochemical genetics
eBook
2013, Fieldwork encounters and discoveries, ISBN 0226924998, xii, 307
It has been close to six decades since Watson and Crick discovered the structure of DNA and more than ten years since the human genome was decoded. Today,... 
Medical examinations | Newborn infants | Diagnosis | Medical screening | Social aspects | Genetic screening | Diseases | United States
Book
2007, Issues in clinical and cognitive neuropsychology, ISBN 0262134802, xiv, 507
Book
Genetic testing, ISSN 1090-6576, 1997
Journal
2006, Fourth, Revised Edition, ISBN 9783540287834, 579
This classical textbook has become indispensable for those in the front line dealing with metabolic disorders. This 4th edition has been thoroughly updated and... 
Metabolism, Inborn errors of | Human Genetics | Medicine | Pediatrics | Neurology | Medicine & Public Health | Endocrinology | Metabolism
eBook
2010, 3rd ed., ISBN 0470191414, xxii, 962
Dr. Suzanne Cassidy is Chief, Division of Human Genetics, Professor of Clinical Pediatrics, and Director of the Residency Training Program in Medical Genetics... 
Genetic disorders | Abnormalities, Multiple - therapy | Abnormalities, Multiple - diagnosis | Genetic Diseases, Inborn - therapy | Variation | Genetic Diseases, Inborn - diagnosis | Human genetics | Diseases
Book
Genetics (Austin), ISSN 1943-2631, 09/2017, Volume 207, Issue 1, pp. 9 - 27
Journal Article
Biochimie, ISSN 0300-9084, 12/2015, Volume 119, pp. 146 - 165
Creatine is physiologically provided equally by diet and by endogenous synthesis from arginine and glycine with successive involvements of arginine glycine... 
GAMT | CRTR | SLC6A8 | AGAT | AMP activated protein kinase | Creatine | Secondary creatine disorders | Life Sciences & Biomedicine | Biochemistry & Molecular Biology | Science & Technology | Amino Acid Transport Systems, Basic - genetics | Humans | Nerve Tissue Proteins - deficiency | Movement Disorders - diagnosis | Amidinotransferases - genetics | Intellectual Disability - metabolism | Biological Transport, Active | Gyrate Atrophy - enzymology | Amino Acid Metabolism, Inborn Errors - genetics | Intellectual Disability - enzymology | Brain Diseases, Metabolic, Inborn - genetics | Hyperammonemia - diagnosis | Hyperammonemia - genetics | Creatine - genetics | Urea Cycle Disorders, Inborn - metabolism | Creatine - biosynthesis | Gyrate Atrophy - genetics | Plasma Membrane Neurotransmitter Transport Proteins - metabolism | Guanidinoacetate N-Methyltransferase - metabolism | Amidinotransferases - metabolism | Plasma Membrane Neurotransmitter Transport Proteins - genetics | Language Development Disorders - enzymology | Urea Cycle Disorders, Inborn - diagnosis | Energy Metabolism | Urea Cycle Disorders, Inborn - enzymology | Movement Disorders - genetics | Mutation | Ornithine - deficiency | Amino Acid Transport Systems, Basic - metabolism | Amino Acid Metabolism, Inborn Errors - enzymology | S-Adenosylmethionine - metabolism | AMP-Activated Protein Kinases - metabolism | Hyperammonemia - metabolism | Developmental Disabilities - metabolism | Guanidinoacetate N-Methyltransferase - genetics | Ornithine - genetics | Developmental Disabilities - genetics | Language Development Disorders - metabolism | Brain Diseases, Metabolic, Inborn - enzymology | Brain Diseases, Metabolic, Inborn - diagnosis | Intellectual Disability - genetics | Amino Acid Metabolism, Inborn Errors - diagnosis | Amino Acid Metabolism, Inborn Errors - metabolism | Mental Retardation, X-Linked - genetics | Mental Retardation, X-Linked - enzymology | Developmental Disabilities - enzymology | Language Development Disorders - diagnosis | Mental Retardation, X-Linked - diagnosis | Movement Disorders - enzymology | Creatine - metabolism | Hyperammonemia - enzymology | Creatine - deficiency | Gyrate Atrophy - diagnosis | Developmental Disabilities - diagnosis | Speech Disorders - diagnosis | Plasma Membrane Neurotransmitter Transport Proteins - deficiency | Speech Disorders - metabolism | Amidinotransferases - deficiency | Brain Diseases, Metabolic, Inborn - metabolism | Language Development Disorders - genetics | Ornithine - metabolism | Gyrate Atrophy - metabolism | Prenatal Diagnosis | Speech Disorders - genetics | Nerve Tissue Proteins - genetics | Nerve Tissue Proteins - metabolism | Amino Acid Transport Systems, Basic - deficiency | Movement Disorders - metabolism | Animals | Urea Cycle Disorders, Inborn - genetics | Guanidinoacetate N-Methyltransferase - deficiency | Intellectual Disability - diagnosis | Movement Disorders - congenital | Speech Disorders - enzymology | Methylation | Mental Retardation, X-Linked - metabolism | Antioxidants | Phosphates | Algorithms | Animal behavior | Physiological aspects | GABA | Glycine | Phosphotransferases | Medical research | Medicine, Experimental | Protein kinases | Index Medicus | Life Sciences
Journal Article