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2004, ISBN 0521840295, 232
Book
2003, ISBN 0805826181, xxi, 456
Williams syndrome | Psychiatry & Clinical Psychology - Adult | Mathematics | Inclusion and Special Educational Needs | Cognition disorders in children | Elementary Secondary Education | Language Skills | Perceptual Motor Coordination | Spatial Ability | Congenital Impairments | Language Acquisition | Mental Retardation | Profiles | Williams Syndrome | Children | Social Development | Interpersonal Competence
Book
2012, Oxford series in developmental cognitive neuroscience, ISBN 9780199594818, xii, 394 p., [7] p. of plates
Developmental neurobiology | Cognition | Developmental disabilities | Developmental psychology | Williams syndrome | Social Psychology | Developmental Psychology | Domains | Brain networks | Social interaction | Cross-syndrome comparisons | Cognitive development | Environmental influences | Gene expression
Book
2006, 3rd ed., ISBN 0387253971, xxiii, 550
Book
2012, Oxford Series in Developmental Cognitive Neuroscience, ISBN 9780195385373, cm.
Book
2017, First Simon & Schuster hardcover edition., ISBN 9781476774053, x, 290 pages
Book
The Pediatric clinics of North America, ISSN 0031-3955, 02/2019, Volume 66, Issue 1, pp. 159 - 167
Journal Article
European journal of human genetics : EJHG, ISSN 1018-4813, 06/2008, Volume 16, Issue 6, pp. 666 - 672
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Chromosome fragility (bloom syndrome, ataxia telangiectasia, fanconi anemia, x-linked mental retardation...) | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Autistic Disorder - genetics | Fragile X Syndrome - genetics | Fragile X Syndrome - physiopathology | Fragile X Syndrome - psychology | Humans | Fragile X Mental Retardation Protein - genetics | Mutation | Neurosciences | Synaptic strength | Intellectual disabilities | Îą-Amino-3-hydroxy-5-methyl-4-isoxazole propionic acid receptors | Mental retardation | Proteins | Fragile X mental retardation protein | Îą-Amino-3-hydroxy-5-methyl-4-isoxazole propionic acid | Genetics | Dendrites | Behavior | Protein transport | Phenotypes | Protein biosynthesis | Ribonucleic acid--RNA | Emotions | Hereditary diseases | Autism | Gene silencing | RNA-binding protein | Genetic counseling | Mood | 5' Untranslated Regions | Fragile X syndrome | Index Medicus | full mutation | FMR1 | autism | permutation
Journal Article
QJM : monthly journal of the Association of Physicians, ISSN 1460-2725, 2014, Volume 107, Issue 4, pp. 261 - 269
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Fanconi Syndrome - diagnosis | Fanconi Syndrome - epidemiology | Prognosis | Fanconi Syndrome - therapy | Humans | Risk Factors | Kidney Function Tests - methods | Drug Monitoring - methods | Fanconi Syndrome - chemically induced | Index Medicus
Journal Article
Redox biology, ISSN 2213-2317, 04/2017, Volume 11, pp. 375 - 383
Antioxidants | Oxidative stress | Nijmegen breakage syndrome (NBS) | Oxidative damage | Bloom syndrome (BS) | Ataxia-telangiectasia (A-T) | Life Sciences & Biomedicine | Biochemistry & Molecular Biology | Science & Technology | Bloom Syndrome - pathology | Nijmegen Breakage Syndrome - pathology | NADPH Oxidase 4 - genetics | Reactive Oxygen Species - metabolism | Signal Transduction | Humans | Nijmegen Breakage Syndrome - metabolism | Gene Expression Regulation | Oxidative Stress - genetics | Bloom Syndrome - metabolism | Ataxia Telangiectasia - metabolism | Mitochondria - metabolism | Bloom Syndrome - genetics | Mitochondria - pathology | Lipoproteins, LDL - genetics | Nijmegen Breakage Syndrome - genetics | NADPH Oxidase 4 - metabolism | Poly(ADP-ribose) Polymerases - metabolism | Poly(ADP-ribose) Polymerases - genetics | Ataxia Telangiectasia - pathology | DNA Repair | Ataxia Telangiectasia - genetics | Lipoproteins, LDL - metabolism | DNA Damage | Index Medicus
Journal Article
Modern rheumatology, ISSN 1439-7595, 09/2018, Volume 28, Issue 5, pp. 897 - 900
Primary biliary cholangitis | Fanconi syndrome | SjĂśgren's syndrome | Tubulointerstitial nephritis | Antimitochondrial antibodies | Life Sciences & Biomedicine | Rheumatology | Science & Technology | Fanconi Syndrome - blood | Nephritis, Interstitial - blood | Nephritis, Interstitial - complications | Acidosis, Renal Tubular - complications | Autoantibodies - blood | Humans | Middle Aged | Sjogren's Syndrome - immunology | Mitochondria - immunology | Acidosis, Renal Tubular - blood | Fanconi Syndrome - complications | Autoantibodies - immunology | Immunoglobulin M - blood | Acidosis, Renal Tubular - immunology | Sjogren's Syndrome - blood | Female | Fanconi Syndrome - immunology | Sjogren's Syndrome - complications | Nephritis, Interstitial - immunology | Index Medicus
Journal Article
1995, 2nd ed., ISBN 9780387943732, xxi, 393
Book
13.
Penetrance of the Fragile X-Associated Tremor/Ataxia Syndrome in a Premutation Carrier Population
JAMA : the journal of the American Medical Association, ISSN 0098-7484, 01/2004, Volume 291, Issue 4, pp. 460 - 469
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Fragile X Syndrome - genetics | Gait | Humans | Middle Aged | Genotype | Male | California | RNA-Binding Proteins | Nerve Tissue Proteins - genetics | Fragile X Mental Retardation Protein | DNA Repeat Expansion | Neurologic Examination | Pedigree | Tremor - genetics | Aged, 80 and over | Female | Heterozygote | Aged | Ataxia - genetics | Mental retardation | Genes | Mutation
Journal Article
Hepatology (Baltimore, Md.), ISSN 0270-9139, 10/2015, Volume 62, Issue 4, pp. 1318 - 1320
Gastroenterology & Hepatology | Life Sciences & Biomedicine | Science & Technology | Hepatitis B, Chronic - drug therapy | Tenofovir - adverse effects | Tenofovir - therapeutic use | Antiviral Agents - therapeutic use | Antiviral Agents - adverse effects | Humans | Adult | Female | Fanconi Syndrome - chemically induced | Nephrotic Syndrome - chemically induced | Hepatitis | Index Medicus
Journal Article
American journal of obstetrics and gynecology, ISSN 0002-9378, 2017, Volume 217, Issue 5, pp. 512 - 521
Obstetrics and Gynecology | BRCA | risk reduction | screening | ovarian cancer | high risk | endometrial cancer | hereditary cancer | cervical cancer | Lynch syndrome | Life Sciences & Biomedicine | Obstetrics & Gynecology | Science & Technology | Genetic Testing | DNA Polymerase III - genetics | Hereditary Breast and Ovarian Cancer Syndrome - diagnosis | Humans | Li-Fraumeni Syndrome - diagnosis | DNA Mismatch Repair - genetics | Tumor Suppressor Protein p53 - genetics | Genital Neoplasms, Female - diagnosis | Li-Fraumeni Syndrome - genetics | Epithelial Cell Adhesion Molecule - genetics | Genes, BRCA2 | Female | RNA Helicases - genetics | Lynch Syndrome II - genetics | Neoplastic Syndromes, Hereditary - genetics | Genes, BRCA1 | Genital Neoplasms, Female - genetics | Hereditary Breast and Ovarian Cancer Syndrome - genetics | PTEN Phosphohydrolase - genetics | Genetic Predisposition to Disease | Hamartoma Syndrome, Multiple - genetics | Fanconi Anemia Complementation Group Proteins - genetics | Protein-Serine-Threonine Kinases - genetics | Neoplastic Syndromes, Hereditary - diagnosis | MutS Homolog 2 Protein - genetics | DNA-Binding Proteins - genetics | Peutz-Jeghers Syndrome - genetics | Hamartoma Syndrome, Multiple - diagnosis | MutL Protein Homolog 1 - genetics | Peutz-Jeghers Syndrome - diagnosis | Lynch Syndrome II - diagnosis | Mismatch Repair Endonuclease PMS2 - genetics | Gene mutations | Endometrial cancer | Diagnosis | Cervical cancer | Genetic screening | Cancer | Ovarian cancer | Index Medicus | Abridged Index Medicus
Journal Article