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Nature reviews. Genetics, ISSN 1471-0056, 05/2013, Volume 14, Issue 5, pp. 307 - 320
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Chromosome Deletion | Oligonucleotide Array Sequence Analysis - methods | Humans | Cytogenetics - methods | Mosaicism | Polymorphism, Single Nucleotide | Mutation | Genome, Human | Genomics - methods | Sequence Analysis, DNA | DNA Copy Number Variations | Genetic aspects | Research | Gene mutations | Health aspects | Risk factors | Index Medicus
Journal Article
American journal of human genetics, ISSN 0002-9297, 07/2015, Volume 97, Issue 1, pp. 6 - 21
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Laws, regulations and rules | Youth | Teenagers | Children | Management | Health aspects | Genetic screening | Ethical aspects | Medical ethics | Ethics | Genetic testing | Health education | Genomics | Index Medicus | ASHG Position Statement
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Nature medicine, ISSN 1078-8956, 03/2019, Volume 25, Issue 3, pp. 361 - 362
Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Cell Biology | Research & Experimental Medicine | Pregnancy | Cell-Free Nucleic Acids | DNA | Humans | Prenatal Diagnosis | Female | Fetus | Prenatal Care | Medical colleges | Care and treatment | Genetic disorders | Pregnant women | Analysis | Research | Health aspects | Deoxyribonucleic acid--DNA | Index Medicus
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American journal of human genetics, ISSN 0002-9297, 05/2010, Volume 86, Issue 5, pp. 749 - 764
IDIOPATHIC MENTAL-RETARDATION | CYTOGENETIC SURVEY | 17Q21.31 MICRODELETION SYNDROME | LOW-LEVEL MOSAICISM | COMPARATIVE GENOMIC HYBRIDIZATION | COPY-NUMBER VARIATIONS | DYSMORPHIC FEATURES | STRUCTURAL VARIATION | UMCG Approved | ARRAY-BASED TECHNOLOGY | OLIGONUCLEOTIDE MICROARRAY | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Chromosome Banding | Congenital Abnormalities - genetics | Humans | Karyotyping | Developmental Disabilities - genetics | Child | Chromosome Disorders - genetics | Usage | Care and treatment | Chromosome abnormalities | DNA microarrays | Child development deviations | Genetic aspects | Research | Diagnosis | Developmental disabilities | Genetic screening | Cytogenetics | Genetics | Congenital diseases | Genetic testing | Chromosomes | Index Medicus
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Prenatal DNA Sequencing: Clinical, Counseling, and Diagnostic Laboratory Considerations
Prenatal diagnosis, ISSN 0197-3851, 01/2018, Volume 38, Issue 1, pp. 26 - 32
Genetics & Heredity | Life Sciences & Biomedicine | Obstetrics & Gynecology | Science & Technology | Diagnostic imaging | Nucleotide sequencing | Pregnant women | Genomics | DNA | DNA sequencing | Ethics | Laboratories | Fetuses | Diagnostic systems | Genomes | Deoxyribonucleic acid--DNA | Gene sequencing | Index Medicus
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Human mutation, ISSN 1059-7794, 07/2012, Volume 33, Issue 7, pp. v - v
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Journal of autism and developmental disorders, ISSN 0162-3257, 10/2015, Volume 45, Issue 10, pp. 3262 - 3275
Autism spectrum disorders | Pediatrics | Child and School Psychology | Neurosciences | Public Health | Perceived utility | Psychology | Chromosomal microarray analysis | Genomic testing | Qualitative | Parent perspectives | Psychology, Developmental | Social Sciences | Intervention | Parent Attitudes | Behavior Modification | Use Studies | Parents | Access to Information | Semi Structured Interviews | Medical Services | Genetic Disorders | Surveys | Autism | Knowledge Level | Etiology | Pervasive Developmental Disorders | Genetics | Children | Autism Spectrum Disorder - genetics | Genetic Testing | Parents - psychology | Patient Acceptance of Health Care | Microarray Analysis | Humans | Child, Preschool | Female | Male | Autism Spectrum Disorder - psychology | Child | Autism Spectrum Disorder - diagnosis | Care and treatment | DNA microarrays | Patient outcomes | Pervasive developmental disorders | Development and progression | Research | Risk factors | Index Medicus
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Scientific reports, ISSN 2045-2322, 02/2020, Volume 10, Issue 1, pp. 2709 - 2709
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Gene Expression | Genetic Predisposition to Disease | Heat-Shock Proteins - metabolism | Humans | Child, Preschool | Male | Mutation, Missense | Biliary Atresia - metabolism | Gene-Environment Interaction | Biliary Atresia - pathology | Case-Control Studies | Whole Exome Sequencing | Biliary Atresia - diagnosis | Exome | Heat-Shock Proteins - genetics | HSP90 Heat-Shock Proteins - metabolism | Nucleotidyltransferases - genetics | Female | HSP90 Heat-Shock Proteins - genetics | Polymorphism, Single Nucleotide | Nucleotidyltransferases - metabolism | Biliary Atresia - genetics | Child | Hsp90 protein | Biliary atresia | Liver diseases | Etiology | DNA repair | Risk factors | Cellular stress response | Index Medicus
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