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Annals of neurology, ISSN 0364-5134, 06/2018, Volume 83, Issue 6, pp. 1072 - 1074
Journal Article
Lancet neurology, ISSN 1474-4422, 2007, Volume 6, Issue 3, pp. 245 - 257
Neurology | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Atrophy | Cerebellar Ataxia - physiopathology | Friedreich Ataxia - physiopathology | Phenotype | Cerebellar Ataxia - genetics | Genes, Recessive - genetics | Abetalipoproteinemia - genetics | Humans | Vitamin E Deficiency - physiopathology | Abetalipoproteinemia - physiopathology | Cerebellum - pathology | Friedreich Ataxia - genetics | Index Medicus
Journal Article
JAMA : the journal of the American Medical Association, ISSN 0098-7484, 10/2014, Volume 312, Issue 18, pp. 1880 - 1887
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Biological and medical sciences | General aspects | Medical sciences | Rare Diseases - genetics | Humans | Rare Diseases - diagnosis | Child, Preschool | Infant | Male | Developmental Disabilities - genetics | Exome | Molecular Diagnostic Techniques | Adolescent | Adult | Female | Mutation | Child | Genetic Diseases, Inborn - diagnosis | Sequence Analysis, DNA - methods | Infant, Newborn | Technology application | Usage | Genetic disorders | Exome sequencing | Diagnosis | Risk factors | Genetic screening | Genotype & phenotype | Genomes | Molecular biology | Medical diagnosis | Index Medicus | Abridged Index Medicus
Journal Article
Nature genetics, ISSN 1061-4036, 05/2015, Volume 47, Issue 6, pp. 579 - 581
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Calcinosis - genetics | Genetic Predisposition to Disease | Genetic Association Studies | Humans | Middle Aged | Male | Neurodegenerative Diseases - genetics | Mutation, Missense | Receptors, Virus - genetics | Lod Score | DNA Mutational Analysis | Pedigree | HEK293 Cells | Female | Receptors, G-Protein-Coupled - genetics | Brain Diseases, Metabolic, Inborn - genetics | Development and progression | Nervous system diseases | Genetic aspects | Gene mutations | Health aspects | Flow cytometry | Stroke | Genealogy | Medical imaging | Womens health | Calcification | Ligands | Mutation | Calcium phosphates | Index Medicus | Life Sciences | Human health and pathology | Neurons and Cognition | Neurobiology | Genetics | Endocrinology and metabolism | Human genetics | Medicin och hälsovetenskap
Journal Article
Annals of neurology, ISSN 0364-5134, 06/2016, Volume 79, Issue 6, pp. 1031 - 1037
Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Leukoencephalopathies - pathology | Leukoencephalopathies - genetics | Humans | Child, Preschool | Male | White Matter - pathology | Young Adult | Exome - genetics | DNA Mutational Analysis | Leukoencephalopathies - diagnosis | Adolescent | Adult | Female | Mutation | Child | Attention Deficit Hyperactivity Disorder | Leukodystrophy | Abnormalities | Diagnostic systems | Substantia alba | Leukoencephalopathy | Patients | Index Medicus | Incidental Findings | MRI Pattern Recognition | Whole Exome Sequencing
Journal Article
Journal of child neurology, ISSN 0883-0738, 9/2012, Volume 27, Issue 9, pp. 1138 - 1145
ataxia | spinocerebellar ataxia | autosomal recessive | cerebellum | Pediatrics | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Neuroimaging | Cerebellar Ataxia - genetics | Child | Humans | Age of Onset | Cerebellar Ataxia - etiology | Index Medicus | Cerebellum | Children | Coordination | Etiology | Cerebellar ataxia | Age | children
Journal Article
Genetics in medicine, ISSN 1098-3600, 04/2018, Volume 20, Issue 4, pp. 464 - 469
infantile neuroaxonal dystrophy | infantile systemic hyalinosis | leukoencephalopathy with vanishing white matter | Undiagnosed Diseases Network | whole-exome sequencing | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Rare Diseases - genetics | Genetic Predisposition to Disease | Molecular Diagnostic Techniques - methods | Humans | Genetic Diseases, Inborn - genetics | Rare Diseases - diagnosis | Child, Preschool | Genetic Association Studies - methods | Genotype | Infant | Whole Exome Sequencing | Whole Genome Sequencing | Exome | Phenotype | Biopsy | Alleles | Female | Molecular Diagnostic Techniques - standards | Polymorphism, Single Nucleotide | Child | Genetic Diseases, Inborn - diagnosis | Index Medicus | EIF2B5 | undiagnosed diseases network | ANTXR2 | PLA2G6 | whole exome sequencing
Journal Article
2018, ISBN 0444632336, Volume 147
Book Chapter
Genetics in medicine, ISSN 1098-3600, 01/2019, Volume 21, Issue 1, pp. 161 - 172
Rare diseases | Genome sequencing | Undiagnosed diseases | Exome sequencing | Phenotyping | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetic Predisposition to Disease | Genomics | Humans | Male | Developmental Disabilities - genetics | Sequence Analysis, DNA | Whole Exome Sequencing - methods | Whole Genome Sequencing | Developmental Disabilities - epidemiology | Exome - genetics | Phenotype | Female | Child | Developmental Disabilities - diagnosis | Bioinformatics | Index Medicus | whole genome sequencing | rare diseases | undiagnosed diseases | Whole exome sequencing | phenotyping
Journal Article