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Nature reviews. Genetics, ISSN 1471-0056, 2005, Volume 6, Issue 1, pp. 46 - 57
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Chromosomes, Human, X | Mental Retardation, X-Linked - classification | Mental Retardation, X-Linked - genetics | Genes | Humans | Mental Retardation, X-Linked - diagnosis | Chromosome Aberrations | Cognition | Mutation | Brain - physiology | Syndrome | Index Medicus
Journal Article
American journal of human genetics, ISSN 0002-9297, 04/2008, Volume 82, Issue 4, pp. 1003 - 1010
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Psychology. Psychoanalysis. Psychiatry | Adult and adolescent clinical studies | Psychopathology. Psychiatry | Medical genetics | Intellectual deficiency | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Microcephaly - genetics | Membrane Proteins - genetics | Humans | Angelman Syndrome - diagnosis | Child, Preschool | Microcephaly - diagnosis | Male | Electroencephalography | Ataxia - diagnosis | Syndrome | Epilepsy - diagnosis | Magnetic Resonance Imaging | Mental Retardation, X-Linked - genetics | Phenotype | DNA Mutational Analysis | Pedigree | Mental Retardation, X-Linked - diagnosis | Angelman Syndrome - genetics | Adult | Epilepsy - genetics | Sodium-Hydrogen Exchangers - genetics | Mutation | Ataxia - genetics | Child | Usage | Genetic aspects | Research | Nucleotide sequencing | X-linked mental retardation | Mutation (Biology) | Mental retardation | Genes | Neurological disorders | Genetic linkage | Index Medicus | Report | Genetik | consensus | na+/h+ exchanger isoforms | identification | membrane | genes | nhe1 | diagnostic-criteria | recycling endosomes | Genetics | plasticity | localizes
Journal Article
Human mutation, ISSN 1059-7794, 12/2015, Volume 36, Issue 12, pp. 1176 - 1187
NSXLID | 2′‐O‐methylation | tRNA | FTSJ1 | intellectual disability | TRM7 | Intellectual disability | 2′-O-methylation | TRNA | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Saccharomyces cerevisiae - genetics | Humans | Methyltransferases - genetics | Male | Saccharomyces cerevisiae - metabolism | Mental Retardation, X-Linked - genetics | Codon | Mental Retardation, X-Linked - diagnosis | RNA, Transfer - genetics | Female | Nuclear Proteins - genetics | Nucleic Acid Conformation | RNA, Transfer - chemistry | Anticodon | RNA, Transfer, Phe - metabolism | Amino Acid Sequence | Cell Line | Methyltransferases - chemistry | Gene Expression | RNA, Transfer - metabolism | RNA, Transfer, Phe - genetics | Models, Molecular | Genotype | Nuclear Proteins - chemistry | Pedigree | Alleles | Protein Conformation | Mutation | Methylation | Amino Acid Substitution | Genetic disorders | Ribonucleic acid--RNA | Intellectual disabilities | Index Medicus
Journal Article
Orphanet journal of rare diseases, ISSN 1750-1172, 2006, Volume 1, Issue 1, pp. 15 - 15
Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Rare Diseases - genetics | Genitalia, Male - abnormalities | Prognosis | Rare Diseases - blood | Face - abnormalities | Humans | Rare Diseases - diagnosis | Child, Preschool | Infant | Male | X-linked Nuclear Protein | Mental Retardation, X-Linked - genetics | Mental Retardation, X-Linked - diagnosis | alpha-Thalassemia - diagnosis | Female | alpha-Thalassemia - genetics | Nuclear Proteins - genetics | Child | DNA Helicases - genetics | Abnormalities, Multiple - genetics | Mental Retardation, X-Linked - therapy | alpha-Thalassemia - therapy | Mutation - genetics | Syndrome | Pregnancy | Rare Diseases - therapy | Abnormalities, Multiple - diagnosis | alpha-Thalassemia - blood | Bone and Bones - abnormalities | Prenatal Diagnosis - methods | Genetic Carrier Screening | Index Medicus
Journal Article
American journal of human genetics, ISSN 0002-9297, 04/2012, Volume 90, Issue 4, pp. 579 - 590
Life Sciences & Biomedicine | Genetics & Heredity | 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 | Fragile X Syndrome - genetics | Fragile X Syndrome - history | History, 21st Century | Genes, X-Linked - genetics | History, 20th Century | Humans | Male | Intellectual Disability - genetics | Intellectual Disability - history | Chromosome Mapping - methods | Fragile X Syndrome - psychology | Chromosome Mapping - history | Female | Mutation | Causes of | Genetic disorders | Research | Genetic variation | X chromosome | Genetics | Learning disabilities | Medical diagnosis | Genomics | Gametes | Prenatal diagnosis | Fragile X syndrome | Mental retardation | Reclassification | Index Medicus | Review
Journal Article
Journal of medical genetics, ISSN 0022-2593, 03/2006, Volume 43, Issue 3, pp. 193 - 200
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Cardiology. Vascular system | General aspects. Genetic counseling | Psychology. Psychoanalysis. Psychiatry | Adult and adolescent clinical studies | Psychopathology. Psychiatry | Medical genetics | Intellectual deficiency | Biological and medical sciences | Medical sciences | Chromosomes, Human, X | Diagnosis, Differential | Cerebellar Ataxia - genetics | Intelligence | Humans | Intellectual Disability - diagnosis | Intellectual Disability - psychology | Chromosome Mapping | Genetic Markers | Intellectual Disability - genetics | Relapse | Analysis | X chromosome | Genetic aspects | Fragile X syndrome | Diagnosis | Risk factors | Diseases | Genotype & phenotype | Skills | Intellectual disabilities | Genes | Classification | Population | Thyroid gland | Mutation | Family medical history | Males | Chromosomes | Index Medicus | X linked mental retardation | XLMR | mental retardation | X linked | recurrence risks | Review
Journal Article
The Lancet (British edition), ISSN 0140-6736, 10/2004, Volume 364, Issue 9443, pp. 1435 - 1437
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Biological and medical sciences | General aspects | Medical sciences | Humans | Child, Preschool | Infant | Male | Mutation, Missense | Intellectual Disability - genetics | Intellectual Disability - blood | Triiodothyronine - blood | Monocarboxylic Acid Transporters - metabolism | Psychomotor Disorders - genetics | Triiodothyronine - metabolism | Gene Deletion | Genetic Diseases, X-Linked - genetics | Monocarboxylic Acid Transporters - genetics | Mutation | Psychomotor Disorders - blood | Child | Physiological aspects | Genetic aspects | Diagnosis | Thyroid hormones | Psychomotor disorders | Developmentally disabled children | Gene mutations | Analysis | X chromosome | Causes of | Research | Health aspects | Clinical trials | Boys | Thyroid gland | Mental retardation | Intellectual disabilities | Exons | Genes | Hypothyroidism | Metabolism | Patients | Gene sequencing | Missense mutation | Coding | Triiodothyronine | Transporter | Thyroid | Index Medicus | Abridged Index Medicus | Clinical Medicine | Pediatrics | Medical and Health Sciences | Klinisk medicin | Medicin och hälsovetenskap | Pediatrik
Journal Article