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European journal of human genetics : EJHG, ISSN 1018-4813, 03/2012, Volume 20, Issue 3, pp. 251 - 257
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Fundamental and applied biological sciences. Psychology | Gastroenterology. Liver. Pancreas. Abdomen | General aspects. Genetic counseling | Liver. Biliary tract. Portal circulation. Exocrine pancreas | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Other diseases. Semiology | Alagille Syndrome - diagnosis | Membrane Proteins - genetics | Serrate-Jagged Proteins | Humans | Facies | Intercellular Signaling Peptides and Proteins - genetics | Receptor, Notch2 - genetics | Mutation | Alagille Syndrome - etiology | Calcium-Binding Proteins - genetics | Jagged-1 Protein | Peripheral pulmonary stenosis | Heart | Retinopathy | Segmentation | Alagille syndrome | Pathogenesis | Lung | Stenosis | Gallbladder diseases | Cardiovascular disease | Vertebra | Defects | Signal transduction | Genetics | Diagnosis | Vertebrae | Dysplasia | Congenital diseases | Liver diseases | Kidneys | Pulmonary arteries | Heredity | Management | Pulmonary artery | Bile duct | Hospitals | Mosaicism | Cholestasis | Bile | Veins & arteries | Index Medicus | Kidney | Notch protein | 20p12 deletion | Practical Genetics | NOTCH2 gene | JAG1 gene | arteriohepatic dysplasia
Journal Article
2017, Edition 15., ISBN 0702066850, x, 400 pages
Book
Nature (London), ISSN 0028-0836, 02/2017, Volume 542, Issue 7642, pp. 433 - 438
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Prevalence | Humans | Middle Aged | Parents | Male | Mi-2 Nucleosome Remodeling and Deacetylase Complex - genetics | Developmental Disabilities - genetics | Casein Kinase II - genetics | Autoantigens - genetics | Young Adult | ras GTPase-Activating Proteins - genetics | Adult | Female | Child | CDC2 Protein Kinase - genetics | Histone-Lysine N-Methyltransferase - genetics | Repressor Proteins - genetics | Sex Characteristics | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Mutation - genetics | Nerve Tissue Proteins - genetics | Sequence Analysis, DNA | Homeodomain Proteins - genetics | DEAD-box RNA Helicases - genetics | Exome - genetics | Phenotype | Myeloid-Lymphoid Leukemia Protein - genetics | Adolescent | Heredity - genetics | Protein Phosphatase 2C - genetics | Cohort Studies | Child development deviations | Genetic aspects | Genetic disorders | Developmental disabilities | Distribution | Genes | Families & family life | Births | Genomes | Mutation | Causality | Estimates | Age | Index Medicus | TRIO | MYT1L | EHMT1 | HNRNPU | SUV420H1 | COL4A3BP | SYNGAP1 | PPP2R1A | POGZ | EP300 | KCNH1 | SCN1A | MEF2C | CDKL5 | CSNK2A1 | DYRK1A | CASK | ALG13 | FOXP1 | KAT6B | TBL1XR1 | KAT6A | SCN8A | KCNQ2 | EEF1A2 | KCNQ3 | ADNP | PhenIcons | SET | KMT2A | ANKRD11 | STXBP1 | FOXG1 | ZC4H2 | ITPR1 | De novo mutation | Seizures | ZBTB18 | CREBBP | SMAD4 | PDHA1 | IQSEC2 | AUTS2 | BCL11A | BRAF | SMARCA2 | GRIN2B | MED13L | GNAO1 | CNOT3 | TCF4 | SCN2A | CDK13 | GABRB3 | SETD5 | KDM5B | Developmental Disease | DDX3X | CHD8 | PTEN | CHD4 | TCF20 | CTCF | CHD2 | WDR45 | SLC6A1 | MECP2 | CHAMP1 | KIF1A | Average Faces | MSL3 | PPP2R5D | SMC1A | ARID1B | DNM1 | CNKSR2 | PACS1 | WAC | ZMYND11 | AHDC1 | NFIX | SATB2 | HDAC8 | PPM1D | GNAI1 | PURA | PUF60 | NSD1 | Intellectual Disability | SLC35A2 | DYNC1H1 | NAA10 | USP9X | PTPN11 | GATAD2B | ASXL1 | KANSL1 | ASXL3 | CTNNB1 | QRICH1
Journal Article
The Lancet (British edition), ISSN 0140-6736, 2015, Volume 386, Issue 9997, pp. 957 - 963
Internal Medicine | Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Diabetes Mellitus - genetics | Diabetes Mellitus - classification | Humans | Female | Infant | Infant, Newborn, Diseases - genetics | Male | Mutation - genetics | Genetic Testing - methods | Infant, Newborn | Infants (Newborn) | Genetic research | Diabetes | Medical screening | Genetic screening | Diabetes therapy | Newborn babies | Genes | Medical treatment | Mutation | Genetic testing | Potassium | Adenosine triphosphatase | Index Medicus | Abridged Index Medicus
Journal Article
Hormone research in paediatrics, ISSN 1663-2818, 10/2013, Volume 80, Issue 3, pp. 137 - 146
Mini Review | Monogenic diabetes of infancy | Transient neonatal diabetes | Permanent neonatal diabetes | Type 1 diabetes | Neonatal diabetes | Pediatrics | Endocrinology & Metabolism | Life Sciences & Biomedicine | Science & Technology | KATP Channels - genetics | Infant, Newborn, Diseases - diagnosis | Humans | Genetic Diseases, Inborn - genetics | Diabetes Mellitus, Type 1 - genetics | Diabetes Mellitus, Type 1 - metabolism | Infant | Male | Infant, Newborn, Diseases - therapy | Genetic Diseases, Inborn - therapy | Diabetes Mellitus, Type 1 - therapy | Diabetes Mellitus, Type 1 - diagnosis | KATP Channels - metabolism | Female | Infant, Newborn, Diseases - genetics | Genetic Diseases, Inborn - metabolism | Infant, Newborn, Diseases - metabolism | Mutation | Genetic Diseases, Inborn - diagnosis | Infant, Newborn | Index Medicus
Journal Article
BMJ open, ISSN 2044-6055, 11/2019, Volume 9, Issue 11, pp. e028683 - e028683
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Health services | Systematic review | Mammography | Breast cancer | Medical screening | Patients | Nurse specialists | Telemedicine | Womens health | Biopsy | Quality control | Stakeholders | Public health | Communication | Content analysis | Index Medicus
Journal Article
JAMA : the journal of the American Medical Association, ISSN 0098-7484, 01/2014, Volume 311, Issue 3, pp. 279 - 286
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Public health. Hygiene-occupational medicine | Public health. Hygiene | Biological and medical sciences | General aspects | Medical sciences | Epidemiology | Glycated Hemoglobin A - analysis | Severity of Illness Index | Diabetes Complications | Prevalence | Cross-Sectional Studies | Diabetes Mellitus, Type 2 - genetics | Humans | Middle Aged | Hyperglycemia - complications | Glucokinase - genetics | Male | Case-Control Studies | Hyperglycemia - genetics | Time Factors | Adult | Female | Mutation | Diabetes Mellitus, Type 2 - complications | Complications and side effects | Blood circulation disorders | Hyperglycemia | Gene mutations | Glucokinase | Physiological aspects | Genetic aspects | Research | Risk factors | Medical research | Diabetes | Index Medicus | Abridged Index Medicus
Journal Article
Human mutation, ISSN 1059-7794, 09/2006, Volume 27, Issue 9, pp. 854 - 869
clinical management | MODY | HNF4A | MODY1 | HNF1A | diabetes | TCF1 | MODY3 | Clinical management | Diabetes | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Protein Structure, Tertiary | Diagnosis, Differential | Genetic Testing | Hepatocyte Nuclear Factor 1-alpha - chemistry | Hepatocyte Nuclear Factor 1-alpha - genetics | Diabetes Mellitus, Type 2 - genetics | Humans | Sulfonylurea Compounds - therapeutic use | Genotype | Hepatocyte Nuclear Factor 4 - genetics | Hepatocyte Nuclear Factor 4 - physiology | Polymorphism, Genetic | Diabetes Mellitus, Type 2 - diagnosis | Phenotype | Adult | Hepatocyte Nuclear Factor 1-alpha - physiology | Mutation | Diabetes Mellitus, Type 2 - drug therapy | Hepatocyte Nuclear Factor 4 - chemistry | Index Medicus
Journal Article