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Journal of genetic counseling, ISSN 1059-7700, 04/2019, Volume 28, Issue 2, pp. 181 - 181
Journal Article
American journal of medical genetics. Part B, Neuropsychiatric genetics, ISSN 1552-4841, 06/2018, Volume 177, Issue 4, pp. 426 - 433
behavior characterization | epigenetic machinery | neurodevelopment | whole exome sequencing | Genetics & Heredity | Life Sciences & Biomedicine | Psychiatry | Science & Technology | Autistic Disorder - genetics | Autism Spectrum Disorder - genetics | Genetic Predisposition to Disease | Histones - genetics | Epigenomics - methods | Epigenesis, Genetic - genetics | Humans | Male | Mutation | Child | Autism Spectrum Disorder - physiopathology | Whole Exome Sequencing | Epigenetic inheritance | Chromatin | Genetic disorders | RNA | Histones | Genetic aspects | Congenital heart disease | Literature reviews | Proteins | Autism | Intellectual disabilities | Epigenetics | mRNA | Heart diseases | Coronary artery disease | Haploinsufficiency | Index Medicus
Journal Article
Journal of genetic counseling, ISSN 1059-7700, 8/2018, Volume 27, Issue 4, pp. 935 - 946
Human Genetics | Coping self-efficacy | Tolerance of uncertainty | Public Health | Parent | Gynecology | Diagnostic odyssey | Depression | Clinical Psychology | Ethics | Biomedicine | Undiagnosed disease | Whole exome sequencing | Health care empowerment | Anxiety | Coping self‐efficacy | Social Sciences | Life Sciences & Biomedicine | Social Sciences, Biomedical | Health Care Sciences & Services | Health Policy & Services | Genetics & Heredity | Biomedical Social Sciences | Science & Technology | Psychological aspects | Medical research | Depression, Mental | Medical genetics | Chronic diseases | Medicine, Experimental | Child psychopathology | Health care | Uncertainty | Psychological needs | Older children | Tolerance | Sex differences | Gender differences | Mental depression | Mothers | Empowerment | Clinical assessment | Parents & parenting | Anxieties | Questionnaires | Self-efficacy | Fathers | Coping | Undiagnosed | Children | Psychosocial factors | Age differences | Chronic illnesses | Index Medicus | parent | anxiety | tolerance of uncertainty | coping self-efficacy | health care empowerment | depression | diagnostic odyssey | whole exome sequencing
Journal Article
Clinical genetics, ISSN 0009-9163, 12/2019, Volume 96, Issue 6, pp. 521 - 531
genetic counseling | genomic sequencing | parental perspectives | rare disorders | healthcare empowerment | undiagnosed disorders | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Validity | Phenotypes | Genetic counseling | Factor analysis | Information processing | Genomes | Anxiety | Children | Quantitative psychology | Diagnosis | Emotions | Empowerment | Index Medicus
Journal Article
Fertility and sterility, ISSN 0015-0282, 2007, Volume 87, Issue 3, pp. 456 - 465
Internal Medicine | Obstetrics and Gynecology | hypergonadotropic amenorrhea | diminished ovarian reserve | FMR1 | primary ovarian insufficiency | fragile X–associated tremor/ataxia syndrome | genetic counseling | premutation | primary hypogonadism | FXTAS | Fragile X syndrome | premature menopause | spontaneous premature ovarian failure | hypergonadotropic hypogonadism | low response to gonadotropin stimulation | fragile X-associated tremor/ataxia syndrome | Life Sciences & Biomedicine | Obstetrics & Gynecology | Reproductive Biology | Science & Technology | Puberal and climacteric disorders (male and female) | Gynecology. Andrology. Obstetrics | Biological and medical sciences | Medical sciences | Non tumoral diseases | Female genital diseases | Fragile X Syndrome - genetics | Fragile X Syndrome - therapy | Genetic Testing | Fragile X Syndrome - physiopathology | Humans | Preimplantation Diagnosis | Male | Genetic Counseling | Trinucleotide Repeat Expansion | Pregnancy | Adolescent | Primary Ovarian Insufficiency - genetics | Adult | Female | Fragile X Mental Retardation Protein - genetics | Mutation | Primary Ovarian Insufficiency - etiology | Index Medicus
Journal Article
Human mutation, ISSN 1059-7794, 06/2013, Volume 34, Issue 6, pp. 801 - 811
lung | ACD/MPV | development | imprinting | FOXF1 | angiogenesis | Development | Angiogenesis | Imprinting | Lung | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Amino Acid Sequence | Humans | Open Reading Frames | Databases, Genetic | Molecular Sequence Data | Infant | Male | Chromosome Mapping | Gene Dosage | Persistent Fetal Circulation Syndrome - genetics | Persistent Fetal Circulation Syndrome - metabolism | Forkhead Transcription Factors - genetics | Persistent Fetal Circulation Syndrome - mortality | Sequence Alignment | Forkhead Transcription Factors - metabolism | Protein Interaction Domains and Motifs - genetics | Forkhead Transcription Factors - chemistry | Female | Mutation | Gene Order | Persistent Fetal Circulation Syndrome - pathology | Infant, Newborn | Dysplasia | Genetic aspects | Developmental biology | DNA-ligand interactions | DNA | Deoxyribonucleic acid--DNA | Index Medicus | ACD | MPV | Medicinsk genetik | Basic Medicine | Medical Genetics | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper
Journal Article
Journal of genetic counseling, ISSN 1059-7700, 04/2019, Volume 28, Issue 2, pp. 194 - 201
psychosocial | case vignettes | rare disease | WES/WGS | grief | Social Sciences | Life Sciences & Biomedicine | Social Sciences, Biomedical | Health Care Sciences & Services | Health Policy & Services | Genetics & Heredity | Biomedical Social Sciences | Science & Technology | Genetic Predisposition to Disease - psychology | Undiagnosed Diseases - psychology | Genetic Counseling - psychology | Genetic Testing | Social Networking | Genomics | Humans | Child, Preschool | Male | Young Adult | Adolescent | Adult | Diagnosis | Child | Grief | Mental disorders | Health problems | Newly diagnosed | Mental health | Genomes | Interdisciplinary aspects | Emotions | Genetic counseling | Health care expenditures | Psychological distress | Counseling | Disappointment | Undiagnosed | Genetic counselling | Index Medicus | WGS | WES
Journal Article
Journal of genetic counseling, ISSN 1059-7700, 12/2012, Volume 21, Issue 6, pp. 752 - 760
Human Genetics | Ethics | Public Health | Biomedicine | Genetic counseling | Gynecology | FMR1 | FXTAS | Clinical Psychology | FXPOI | Fragile X | Social Sciences | Life Sciences & Biomedicine | Social Sciences, Biomedical | Health Care Sciences & Services | Health Policy & Services | Genetics & Heredity | Biomedical Social Sciences | Science & Technology | Fragile X Syndrome - genetics | Fragile X Syndrome - physiopathology | Humans | Male | Genetic Counseling | Reproduction | Societies, Medical | Female | Fragile X Mental Retardation Protein - genetics | Mutation | Population Surveillance | Fragile X Syndrome - epidemiology | Practice Guidelines as Topic | Anopheles | Gene mutations | Genes | Practice guidelines (Medicine) | Genetic transcription | Mental illness | Risk factors | Genetic screening | Trade and professional associations | Genetic disorders | Genetic testing | Mental retardation | Index Medicus | Health care | Neonates | Translation | Prognosis | Transcription | X chromosome | Guidelines | Risk assessment | Point mutation | Fragile X syndrome | fragile X mental retardation protein | Genetic counselling | Pharmaceuticals
Journal Article
Journal of human genetics, ISSN 1434-5161, 12/2018, Volume 63, Issue 12, pp. 1211 - 1222
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Inflammation - pathology | Neurodegenerative Diseases - pathology | Oxidoreductases - metabolism | Oxidoreductases - genetics | Humans | Brain - enzymology | Iron-Sulfur Proteins - genetics | Male | Mice, Transgenic | Neurodegenerative Diseases - genetics | Animals | Alleles | Brain - pathology | Inflammation - genetics | Female | Iron-Sulfur Proteins - metabolism | Mice | Mutation | Inflammation - enzymology | Neurodegenerative Diseases - enzymology | Ferredoxin reductase | Phenotypes | Neurodegenerative diseases | Astrocytes | Inflammation | Energy requirements | Peripheral neuropathy | Atrophy | Electron transport chain | Mitochondria | Optic atrophy | Gliosis | Neurodegeneration | Autopsy | Evolution | Ferredoxin | Index Medicus
Journal Article