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European journal of medical genetics, ISSN 1769-7212, 2015, Volume 58, Issue 12, pp. 674 - 680
Medical Education | Trisomy 21 | Surveillance | Etiology | Ascertainment | Congenital heart disease | Down syndrome | Congenital heart defects | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Congenital Abnormalities - epidemiology | Prevalence | Genetic Association Studies | Humans | Prenatal Diagnosis | Europe - epidemiology | Down Syndrome - epidemiology | Infant | Male | Incidence | Congenital Abnormalities - diagnosis | Pregnancy | Public Health Surveillance | Down Syndrome - complications | Female | Registries | Down Syndrome - diagnosis | Infant, Newborn | Hernia | Genetic disorders | Pregnant women | Index Medicus
Journal Article
American journal of medical genetics. Part A, ISSN 1552-4825, 12/2018, Volume 176, Issue 12, pp. 2646 - 2660
anorectal malformations | vertebral defects, anal atresia, cardiac septal defects, esophageal atresia or tracheoesophageal fistula, renal anomalies and radial limb defects | multiple congenital anomalies | anal anomalies | urogenital anomalies | anorectal anomalies | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Pregnancy | Vertebrae | Etiology | Congenital defects | Hernias | Fistulae | Anorectal | Sudden infant death syndrome--SIDS | Defects | Esophagus | Index Medicus
Journal Article
1985, Collection L'état du monde, ISBN 2707115223, 640
Book
American journal of medical genetics. Part A, ISSN 1552-4825, 05/2008, Volume 146A, Issue 10, pp. 1280 - 1285
classification of birth defects | gastroschisis | congenital malformations | abdominal wall defects | omphalocele | Gastroschisis | Abdominal wall defects | Omphalocele | Classification of birth defects | Congenital malformations | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Biological and medical sciences | Medical genetics | Medical sciences | Prevalence | Humans | Gastroschisis - epidemiology | Hernia, Umbilical - epidemiology | Gastroschisis - physiopathology | Hernia, Umbilical - diagnosis | Hernia, Umbilical - physiopathology | Abnormalities, Multiple - physiopathology | Gastroschisis - diagnosis | Gastroschisis - genetics | Abdominal Wall - abnormalities | Abnormalities, Multiple - diagnosis | Abnormalities, Multiple - epidemiology | Abnormalities, Multiple - genetics | Hernia, Umbilical - genetics | Infant, Newborn | Congenital Abnormalities - classification | Index Medicus
Journal Article
American journal of medical genetics. Part A, ISSN 1552-4825, 08/2017, Volume 173, Issue 8, pp. 2139 - 2157
tracheooesophageal fistula | congenital anomalies | congenital malformations | esophageal atresia | VACTERL association | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Chromosome Disorders - epidemiology | Limb Deformities, Congenital - genetics | Congenital Abnormalities - epidemiology | Esophageal Atresia - epidemiology | Humans | Congenital Abnormalities - physiopathology | Stillbirth | Limb Deformities, Congenital - physiopathology | Male | Spine - abnormalities | Esophagus - physiopathology | Heart Defects, Congenital - genetics | Congenital Abnormalities - genetics | Anal Canal - physiopathology | Abnormalities, Multiple - epidemiology | Female | Esophageal Atresia - genetics | Trachea - physiopathology | Esophageal Atresia - complications | Chromosome Disorders - physiopathology | Abnormalities, Multiple - genetics | Kidney - physiopathology | Trachea - abnormalities | Esophageal Atresia - physiopathology | Chromosome Disorders - complications | Spine - physiopathology | Fetus - physiopathology | Esophagus - abnormalities | Abnormalities, Multiple - physiopathology | Anal Canal - abnormalities | Pregnancy | Heart Defects, Congenital - complications | Kidney - abnormalities | Limb Deformities, Congenital - epidemiology | Chromosome Aberrations | Heart Defects, Congenital - epidemiology | Limb Deformities, Congenital - complications | Heart Defects, Congenital - physiopathology | Chromosome Disorders - genetics | Development and progression | Birth defects | Genetic disorders | Etiology | Congenital defects | Hernias | Fetuses | CHARGE syndrome | Infants | Sudden infant death syndrome--SIDS | Esophagus | Index Medicus
Journal Article
Orphanet journal of rare diseases, ISSN 1750-1172, 01/2019, Volume 14, Issue 1, pp. 15 - 15
Neurological impairment | Adult | Down syndrome | Infectious risk | Immunodeficiency | Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Down Syndrome - metabolism | Humans | Middle Aged | Male | Hospitalization | Down Syndrome - immunology | Young Adult | Lymphopenia - metabolism | Adolescent | Chromosome Aberrations | Down Syndrome - genetics | Female | Aged | Lymphopenia - immunology | Retrospective Studies | Lymphopenia - genetics | Infection | Clinical trials | Children | Health aspects | Analysis | Risk factors | Congenital diseases | Memory | Mortality | Epilepsy | Malignancy | Hypothyroidism | Multivariate analysis | Streptococcus infections | Hospitals | Down's syndrome | Lymphopenia | Lymphocytes | Dementia disorders | Degeneration | Adults | Tetanus | Age | Dementia | Immune system | Index Medicus
Journal Article
Frontiers in immunology, ISSN 1664-3224, 2020, Volume 11, pp. 840 - 840
Journal Article
Frontiers in genetics, ISSN 1664-8021, 2019, Volume 10, Issue MAY, p. 504
Human | Rare diseases | NGS (next generation sequencing) | Skeletal dysplasia | Amelogenesis imperfecta | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetic research | Dysplasia | Genetic aspects | Life Sciences | Genetics | Human genetics | rare diseases | human | skeletal dysplasia | amelogenesis imperfecta
Journal Article
Journal of medical genetics, ISSN 0022-2593, 06/2020, Volume 57, Issue 6, pp. 389 - 399
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Deafness | Cyclin-dependent kinases | Genes | Fetuses | Cognitive ability | Retina | Genomes | Hypothalamus | Microcephaly | Patients | Pigmentation | Neurogenesis | Holoprosencephaly | Defects | Dwarfism | Genotype & phenotype | Microencephaly | Magnetic resonance imaging | Cognition & reasoning | Cell cycle | Cochlea | Mutation | Microphthalmia | Index Medicus | Life Sciences | Genetics | Development Biology | Human genetics
Journal Article
Human mutation, ISSN 1059-7794, 07/2020, Volume 41, Issue 7, pp. 1220 - 1225
Journal Article
Genetics in medicine, ISSN 1098-3600, 2020, Volume 23, Issue 1, pp. 111 - 122
Journal Article
Open medicine (Warsaw, Poland), ISSN 2391-5463, 05/2020, Volume 15, Issue 1, pp. 435 - 446
sudden death | cardiac death | cardiomyopathy | genetic testing | post-mortem | Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Heart failure | Pathology | Cardiomyopathy | Pulmonary arteries | Fibroblasts | Cardiovascular disease | Genetic testing | Cardiology | Deoxyribonucleic acid--DNA | Life Sciences | Human health and pathology | Genetics | Cardiology and cardiovascular system | Human genetics
Journal Article