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American journal of medical genetics. Part A, ISSN 1552-4825, 01/2020, Volume 182, Issue 1, pp. 93 - 103
white matter | magnetic resonance imaging | microdeletion/microduplication syndromes | corpus callosum | copy number variation | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Brain - diagnostic imaging | Leukoencephalopathies - genetics | Microcephaly - genetics | White Matter - metabolism | Humans | Leukoencephalopathies - diagnostic imaging | Cataract - diagnostic imaging | Cataract - pathology | Male | Body Dysmorphic Disorders - diagnostic imaging | Brain - metabolism | Developmental Disabilities - diagnostic imaging | Developmental Disabilities - pathology | Cornea - pathology | Child | Abnormalities, Multiple - genetics | Optic Atrophy - genetics | Genetic Predisposition to Disease | Intellectual Disability - pathology | DNA Copy Number Variations - genetics | Microcephaly - diagnostic imaging | White Matter - pathology | Corpus Callosum - diagnostic imaging | Magnetic Resonance Imaging | Muscle Hypotonia - pathology | Adolescent | Brain - pathology | Cataract - genetics | Cornea - abnormalities | Optic Atrophy - diagnostic imaging | Cohort Studies | Abnormalities, Multiple - pathology | Cornea - diagnostic imaging | Body Dysmorphic Disorders - genetics | Corpus Callosum - metabolism | Epilepsy - diagnostic imaging | Hypogonadism - diagnostic imaging | Developmental Disabilities - genetics | Intellectual Disability - genetics | Optic Atrophy - pathology | Chromosomes - genetics | Agenesis of Corpus Callosum - genetics | Microcephaly - pathology | Epilepsy - genetics | Female | Hypogonadism - pathology | Leukoencephalopathies - pathology | Muscle Hypotonia - genetics | Muscle Hypotonia - diagnostic imaging | Intellectual Disability - diagnostic imaging | Agenesis of Corpus Callosum - diagnostic imaging | Body Dysmorphic Disorders - pathology | Abnormalities, Multiple - diagnostic imaging | Agenesis of Corpus Callosum - pathology | Hypogonadism - genetics | White Matter - diagnostic imaging | Cataract - congenital | Corpus Callosum - pathology | Epilepsy - pathology | Neuroimaging | Nuclear magnetic resonance--NMR | Copy number | Intellectual disabilities | Epilepsy | Medical records | Neurodevelopmental disorders | Substantia alba | Substantia grisea | Patients | Corpus callosum | Microencephaly | Magnetic resonance imaging | Index Medicus
Journal Article
Human molecular genetics, ISSN 0964-6906, 2017, Volume 26, Issue 22, pp. 4506 - 4518
Molecular Biology | Genetics(clinical) | Genetics | Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Neurons - pathology | Humans | Middle Aged | Atrophy - pathology | Cataract - pathology | Child, Preschool | Male | Tubulin - genetics | Myelin Sheath - metabolism | Brain - metabolism | Young Adult | Leukodystrophy, Metachromatic - metabolism | Tubulin - metabolism | Adult | Female | Child | Leukodystrophy, Metachromatic - pathology | Hereditary Central Nervous System Demyelinating Diseases - genetics | Basal Ganglia - pathology | Cataract - metabolism | Microtubules - pathology | Cerebellum - pathology | Hereditary Central Nervous System Demyelinating Diseases - metabolism | Oligodendroglia - pathology | Leukodystrophy, Metachromatic - genetics | Magnetic Resonance Imaging | Hereditary Central Nervous System Demyelinating Diseases - pathology | Phenotype | Cataract - congenital | Myelin Sheath - genetics | Adolescent | Brain - pathology | Cataract - genetics | HeLa Cells | Mutation | Index Medicus
Journal Article
Progress in retinal and eye research, ISSN 1350-9462, 2007, Volume 26, Issue 1, pp. 78 - 98
Journal Article
Neuromuscular disorders : NMD, ISSN 0960-8966, 2017, Volume 27, Issue 8, pp. 771 - 776
Neurology | EPG5 | Vacuolar myopathy | Muscle pathology | Vici syndrome | Autophagy | Lysosome | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Agenesis of Corpus Callosum - diagnostic imaging | Humans | Cataract - diagnostic imaging | Cataract - pathology | Infant | Male | Agenesis of Corpus Callosum - pathology | Muscles - pathology | Proteins - genetics | Agenesis of Corpus Callosum - genetics | Fatal Outcome | Cataract - genetics | Mutation | Case studies | Medical research | Phosphatases | Glycogen | Analysis | Myosin | Medicine, Experimental | Genetic aspects | Muscle proteins | Index Medicus | Pediatrics | Pediatrik
Journal Article
Aging cell, ISSN 1474-9718, 08/2012, Volume 11, Issue 4, pp. 675 - 682
TOR | interventions | longevity pathology | Interventions | Longevity pathology | Life Sciences & Biomedicine | Geriatrics & Gerontology | Science & Technology | Cell Biology | Liver - pathology | Cataract - chemically induced | Longevity - drug effects | Tendons - drug effects | Aging - drug effects | Endometrium - drug effects | Motor Activity - drug effects | Male | Mice, 129 Strain | Adrenal Gland Neoplasms - chemically induced | Sirolimus - toxicity | Testis - drug effects | TOR Serine-Threonine Kinases - antagonists & inhibitors | Liver - drug effects | Female | Mice, Inbred DBA | Mice, Inbred C57BL | Sirolimus - blood | Organ Specificity | Sirolimus - pharmacology | Mice, Inbred C3H | Aging - pathology | Myocytes, Cardiac - pathology | Animals | Myocytes, Cardiac - drug effects | Testis - pathology | Aging - physiology | Tendons - pathology | Mice | Endometrium - pathology | Longevity - physiology | Analysis | Rapamycin | Ophthalmology | Aging | Medical research | Rodents | Index Medicus
Journal Article
American journal of human genetics, ISSN 0002-9297, 02/2015, Volume 96, Issue 2, pp. 245 - 257
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Abnormalities, Multiple - pathology | Humans | Atrophy - pathology | Cataract - pathology | Molecular Sequence Data | Intellectual Disability - genetics | Base Sequence | Atrophy - genetics | Neutropenia - pathology | Neutropenia - genetics | Abnormalities, Multiple - genetics | Sarcoplasmic Reticulum Calcium-Transporting ATPases - metabolism | Movement Disorders - pathology | Intellectual Disability - pathology | Adenosine Triphosphatases - metabolism | Endopeptidase Clp - genetics | Zebrafish | Endopeptidase Clp - metabolism | Metabolism, Inborn Errors - genetics | Sequence Analysis, DNA | Exome - genetics | Animals | Brain - pathology | Polymorphism, Single Nucleotide - genetics | Cataract - genetics | Movement Disorders - genetics | Metabolism, Inborn Errors - pathology | Gene mutations | Causes of | Genetic research | Genetic aspects | Research | Mental retardation | Movement disorders | Brain diseases | Genotype & phenotype | Neurology | Congenital diseases | Pathogenesis | Leukemia | Adenosine triphosphatase | Index Medicus
Journal Article
American journal of human genetics, ISSN 0002-9297, 02/2015, Volume 96, Issue 2, pp. 258 - 265
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Abnormalities, Multiple - pathology | Mitochondrial Diseases - pathology | Genes, Recessive - genetics | Humans | Atrophy - pathology | Cataract - pathology | Child, Preschool | Molecular Sequence Data | Infant | Male | Mutation, Missense - genetics | Base Sequence | Atrophy - genetics | Fatal Outcome | Neutropenia - pathology | Epilepsy - genetics | Female | Neutropenia - genetics | Abnormalities, Multiple - genetics | Infant, Newborn | Fibroblasts - metabolism | Mitochondrial Diseases - genetics | Movement Disorders - pathology | Liver - metabolism | Endopeptidase Clp - genetics | Endopeptidase Clp - metabolism | Metabolism, Inborn Errors - genetics | Sequence Analysis, DNA | Exome - genetics | Brain - pathology | Cataract - genetics | Movement Disorders - genetics | Metabolism, Inborn Errors - pathology | Epilepsy - pathology | Codon, Nonsense - genetics | Greenland | Genetic variation | Physiological aspects | Genetic research | Mitochondrial diseases | Genetic aspects | Research | Neutropenia | Proteins | Mitochondria | Phosphorylation | Genetic disorders | Proteases | Epilepsy | Genomics | Index Medicus | Report
Journal Article