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European journal of human genetics : EJHG, ISSN 1018-4813, 2014, Volume 22, Issue 1, pp. 71 - 78
autism spectrum disorders | copy number variants | autosomal recessive inheritance | genetic interactions | 15q11-q12 triplication | Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Genetic Association Studies | Child Development Disorders, Pervasive - pathology | Oligonucleotide Array Sequence Analysis - methods | Humans | Child, Preschool | Child Development Disorders, Pervasive - etiology | Genotype | Infant | Male | DNA Copy Number Variations - genetics | DNA Methylation - genetics | Chromosomes, Human, Pair 15 - genetics | Cri-du-Chat Syndrome - genetics | Trisomy - genetics | Comparative Genomic Hybridization | Child Development Disorders, Pervasive - genetics | Adolescent | Polymorphism, Single Nucleotide - genetics | Female | Child | Chromosomes, Human, Pair 5 - genetics | Copy number | Genes | Schizophrenia | Genomes | Chromosome deletion | Single-nucleotide polymorphism | Gene deletion | Streptococcus infections | Proteins | Autism | DNA microarrays | Clonal deletion | Chromosome 9 | Genetics | Chromosome 15 | Chromosomes | Index Medicus | 15q11–q12 triplication
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Orphanet journal of rare diseases, ISSN 1750-1172, 2013, Volume 8, Issue 1, pp. 80 - 80
Genetics | Encephalopathy | Epilepsy | KCNQ2 | Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Brain - diagnostic imaging | Genetic Predisposition to Disease | Epilepsy, Benign Neonatal - diagnosis | Humans | Infant | Male | Electroencephalography | Epilepsy, Benign Neonatal - pathology | Radiography | Magnetic Resonance Imaging | Phenotype | Epilepsy, Benign Neonatal - genetics | KCNQ2 Potassium Channel - genetics | Epilepsy - genetics | Female | Mutation | Infants (Newborn) | Medicine, Experimental | Medical research | Gene mutations | Index Medicus | Life Sciences
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The Journal of pediatrics, ISSN 0022-3476, 2017, Volume 185, pp. 160 - 166.e1
Pediatrics | chromosomal microarray | CNV | corpus callosum | SNP array | agenesis of corpus callosum | dysgenesis of corpus callosum | Life Sciences & Biomedicine | Science & Technology | Prospective Studies | Chromosome Duplication | Humans | Child, Preschool | Male | Zinc Finger E-box-Binding Homeobox 1 - genetics | DNA Copy Number Variations | Intellectual Disability - genetics | Young Adult | Chromosomes, Human, Pair 3 | Hedgehog Proteins - genetics | Microarray Analysis | Agenesis of Corpus Callosum - genetics | Cell Cycle Proteins - genetics | Adult | Female | Child | Chromosome Deletion | Basic Helix-Loop-Helix Transcription Factors - genetics | Chromosomes, Human, Pair 8 | Chromosomes, Human, Pair 7 | Chromosomes, Human, Pair 19 | Adolescent | Polymorphism, Single Nucleotide | Chromosomes, Human, Pair 10 | Analysis | Resveratrol | Index Medicus | Abridged Index Medicus | Life Sciences | Genetics
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Orphanet journal of rare diseases, ISSN 1750-1172, 2014, Volume 9, Issue 1, pp. 207 - 207
Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | France - epidemiology | Phosphotransferases (Phosphomutases) - genetics | Humans | Middle Aged | Male | Young Adult | Phenotype | Adolescent | Age of Onset | Adult | Female | Retrospective Studies | Congenital Disorders of Glycosylation - epidemiology | Phosphotransferases (Phosphomutases) - deficiency | Congenital Disorders of Glycosylation - genetics | Cohort Studies | Congenital Disorders of Glycosylation - diagnosis | Genotype & phenotype | Walking | Congenital diseases | Child development | Consent | Mortality | Ataxia | Thrombosis | Patients | Metabolic disorders | Age | Blood | Index Medicus | Life Sciences | Human health and pathology | Pediatrics | Genetics | Human genetics
Journal Article
Epilepsia (Copenhagen), ISSN 0013-9580, 10/2011, Volume 52, Issue 10, pp. 1820 - 1827
Epileptic encephalopathy | Infantile spasms | Tremor | STXBP1 | Haploinsufficiency | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Munc18 Proteins - genetics | Spasms, Infantile - physiopathology | Oligonucleotide Array Sequence Analysis | Brain - physiopathology | Humans | Anticonvulsants - therapeutic use | Infant | Electroencephalography | Tremor - complications | Spasms, Infantile - genetics | Tremor - physiopathology | Mutagenesis, Insertional - genetics | Spasms, Infantile - drug therapy | Tremor - genetics | Polymorphism, Single Nucleotide - genetics | Female | Heterozygote | Spasms, Infantile - complications | Codon | Encephalopathy | Epilepsy | Genes | Cytogenetics | Seizures (Medicine) | Diagnosis | Convulsions & seizures | Nuclear magnetic resonance--NMR | Mutation | Patients | Index Medicus | Neuroimaging | Brain | tremor | Nonsense mutation | Insertion | Infants | Antiepileptic agents | Gene deletion | Magnetic resonance imaging | genomics | Seizures
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Human mutation, ISSN 1059-7794, 06/2012, Volume 33, Issue 6, pp. 949 - 959
HMSNII | RYR1 | hereditary motor and sensory neuropathy type II | DI‐CMTB | ADCNM | DNM2 | MTM1 | centronuclear myopathy | CMT2M | CMTD1B | myotubular myopathy | BIN1 | endocytosis | Charcot–Marie–Tooth neuropathy | congenital myopathy | Hereditary motor and sensory neuropathy type II | Congenital myopathy | Di-CMTB | Endocytosis | Myotubular myopathy | Charcot-marie-tooth neuropathy | Centronuclear myopathy | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Amino Acid Sequence | Sequence Alignment | Dynamin II - chemistry | Genes, Dominant | Genetic Association Studies | Humans | Dynamin II - genetics | Molecular Sequence Data | Myopathies, Structural, Congenital - diagnosis | Myopathies, Structural, Congenital - genetics | Mutation | Polymorphism, Genetic | Index Medicus | Life Sciences | Biochemistry, Molecular Biology | Computer Science | Genetics | Molecular biology | Bioinformatics | Human genetics | DI-CMTB | chemistry | Dynamin II | Congenital | Genes | Structural | Genetic | diagnosis | Myopathies | Klinisk medicin | Clinical Medicine | genetics | Dominant | Polymorphism
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American journal of medical genetics. Part A, ISSN 1552-4825, 07/2012, Volume 158A, Issue 7, pp. 1612 - 1619
epileptic encephalopathy | CDKL5 | Rett syndrome | Epileptic encephalopathy | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Neurology | Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases | Medical genetics | Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy | Biological and medical sciences | Medical sciences | Nervous system (semeiology, syndromes) | Genetic Association Studies | Humans | Protein-Serine-Threonine Kinases - genetics | Infant | Spasms, Infantile - genetics | Intellectual Disability - genetics | Phenotype | Adenosine Triphosphate - metabolism | Female | Protein Interaction Domains and Motifs | Protein-Serine-Threonine Kinases - chemistry | Mutation | Rett Syndrome - genetics | Binding Sites | Infant, Newborn | X Chromosome Inactivation | Index Medicus | ATP
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Amino acids, ISSN 0939-4451, 12/2015, Volume 47, Issue 12, pp. 2647 - 2658
Life Sciences | Biochemistry, general | Cationic amino acid transporter | Autism spectrum disorders | Analytical Chemistry | Life Sciences, general | Oligogenism | Biochemical Engineering | Proteomics | Neurobiology | Exome sequencing | Chromosome X | Life Sciences & Biomedicine | Biochemistry & Molecular Biology | Science & Technology | Amino Acid Sequence | Autism Spectrum Disorder - genetics | Amino Acid Transport Systems, Basic - genetics | Biotinylation | Chromosomes, Human, X - genetics | Oocytes - metabolism | Gene Frequency | Humans | Molecular Conformation | Xenopus laevis | Molecular Sequence Data | Male | Mutation, Missense | Loss of Heterozygosity | Epilepsy - complications | Brain - metabolism | Phenotype | Animals | Pedigree | Epilepsy - genetics | Cell Membrane - metabolism | Mutation | Child | Autism | Amino acids | Analysis | Genomics | Index Medicus | Human | Cationic | Disorders | Males | Transporter | Patients | Genetics | Biomolecules | Biochemistry, Molecular Biology | Human genetics | Original
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Psychiatric and cognitive phenotype in children and adolescents with myotonic dystrophy
European child & adolescent psychiatry, ISSN 1018-8827, 2009, Volume 18, Issue 12, pp. 705 - 715
Myotonic dystrophy type 1 | Cognitive profile | Juvenile form | Psychiatric phenotype | Pediatrics | Social Sciences | Life Sciences & Biomedicine | Psychology | Psychology, Developmental | Psychiatry | Science & Technology | Neurology | Biological and medical sciences | Medical sciences | Diseases of striated muscles. Neuromuscular diseases | Humans | Anxiety Disorders - diagnosis | Child, Preschool | Male | Intelligence - genetics | Intellectual Disability - genetics | Young Adult | Child Development Disorders, Pervasive - diagnosis | Myotonic Dystrophy - genetics | Female | Child | Depressive Disorder - genetics | Child Behavior Disorders - psychology | Child Behavior Disorders - diagnosis | Comorbidity | Self-Injurious Behavior - psychology | Depressive Disorder - diagnosis | Genotype | Anxiety Disorders - psychology | Self-Injurious Behavior - genetics | Phenotype | Attention Deficit Disorder with Hyperactivity - genetics | Child Development Disorders, Pervasive - psychology | Myotonic Dystrophy - psychology | Child Development Disorders, Pervasive - genetics | Intellectual Disability - diagnosis | Adolescent | Internal-External Control | Attention Deficit Disorder with Hyperactivity - psychology | Anxiety Disorders - genetics | Intellectual Disability - psychology | Child Behavior Disorders - genetics | Depressive Disorder - psychology | Genetic Carrier Screening | Neurosciences | Myotonic dystrophy | Analysis | Attention-deficit hyperactivity disorder | Genetic aspects | Learning disabilities | Anxiety | Index Medicus
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