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Nature genetics, ISSN 1061-4036, 09/2012, Volume 44, Issue 9, pp. 975 - 977
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Retinopathies | Diseases of visual field, optic nerve, optic chiasma and optic tracts | Biological and medical sciences | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Ophthalmology | Severity of Illness Index | Genetic Predisposition to Disease | Optic Atrophy - complications | Humans | Macular Degeneration - complications | Child, Preschool | Polymorphism, Single Nucleotide - physiology | Leber Congenital Amaurosis - genetics | Leber Congenital Amaurosis - complications | Young Adult | Mutation - physiology | Optic Atrophy - epidemiology | Macular Degeneration - genetics | Adolescent | Age of Onset | Macular Degeneration - epidemiology | Nicotinamide-Nucleotide Adenylyltransferase - genetics | Adult | Child | Leber Congenital Amaurosis - epidemiology | Cohort Studies | Optic Atrophy - genetics | Optic atrophy | Gene mutations | Patient outcomes | Development and progression | Genetic aspects | Leber's congenital amaurosis | Health aspects | Risk factors | Proteins | Genealogy | Disease | Insects | Genes | Genetics | Retina | Genomes | Mutation | Index Medicus
Journal Article
American journal of human genetics, ISSN 0002-9297, 05/2016, Volume 98, Issue 5, pp. 971 - 980
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genes, Recessive - genetics | Humans | Aniridia - etiology | Cerebellar Ataxia - etiology | Intellectual Disability - pathology | Child, Preschool | Infant | Male | Cerebellar Ataxia - pathology | Mutation - genetics | Aniridia - pathology | Pedigree | Adolescent | Female | Intellectual Disability - etiology | Child | Genes, Dominant - genetics | Infant, Newborn | Inositol 1,4,5-Trisphosphate Receptors - genetics | Causes of | Genetic aspects | Gene mutations | Health aspects | Aniridia | Ataxia | Genetic disorders | Mutation | Intellectual disabilities | Genes | Index Medicus | Report
Journal Article
American journal of human genetics, ISSN 0002-9297, 02/2013, Volume 92, Issue 2, pp. 265 - 270
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Introns - genetics | Genes, Recessive - genetics | Microphthalmos - genetics | Humans | Aldehyde Dehydrogenase - genetics | Exons - genetics | Male | Mutant Proteins - metabolism | Anophthalmos - enzymology | Mutation - genetics | Sequence Analysis, DNA | Anophthalmos - genetics | Homozygote | Pedigree | HEK293 Cells | Microphthalmos - enzymology | Aldehyde Oxidoreductases | Female | Chromosome Segregation - genetics | Genetic Linkage | Gene mutations | Causes of | Diagnosis | Research | Nucleotide sequencing | Gene expression | Anophthalmos | DNA sequencing | Enzymes | Genetic aspects | Aldehydes | Medical genetics | Tretinoin | Amino acids | Mutation | Protein synthesis | Eyes & eyesight | Index Medicus | Eye | Heart | Missense mutation | Anophthalmia | Open reading frames | Gene mapping | Aldehyde dehydrogenase | Retinoic acid | Microphthalmia | Report
Journal Article
Human genetics, ISSN 0340-6717, 9/2019, Volume 138, Issue 8, pp. 793 - 793
Human Genetics | Gene Function | Molecular Medicine | Biomedicine | Metabolic Diseases | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Developmental Disabilities - pathology | Developmental Disabilities - genetics | Eye Diseases - genetics | Eye Diseases - pathology | Humans | Molecular genetics | Eye diseases | Genetic aspects | Eye disorders | Index Medicus
Journal Article
Human genetics, ISSN 0340-6717, 9/2019, Volume 138, Issue 8, pp. 795 - 798
Journal Article
Nature genetics, ISSN 1061-4036, 03/2004, Volume 36, Issue 3, pp. 225 - 227
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Neurology | Biological and medical sciences | Nervous system as a whole | Medical sciences | Nervous system (semeiology, syndromes) | Cerebellar Ataxia - genetics | Humans | RNA Helicases - genetics | Chromosome Mapping | Chromosomes, Human, Pair 9 | Fungal Proteins - genetics | Mutation | Saccharomyces cerevisiae Proteins - genetics | Ocular Motility Disorders - genetics | alpha-Fetoproteins - metabolism | Complications and side effects | Gene mutations | Physiological aspects | Ataxia | Genetic aspects | Diagnosis | Research | Helicases | Risk factors | Index Medicus
Journal Article
Genetics in medicine, ISSN 1098-3600, 03/2020, Volume 22, Issue 3, pp. 598 - 609
Journal Article
Orphanet journal of rare diseases, ISSN 1750-1172, 12/2019, Volume 14, Issue 1, pp. 288 - 288
Panel | Pathogenic,variant | Progeroid | Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Medical research | Analysis | Genes | Genomics | Medical genetics | Medicine, Experimental | Nucleotide sequencing | DNA sequencing | Disease | Laboratories | Genomes | Patients | Genetic screening | Progeroid syndromes | Connective tissues | Proteins | Next-generation sequencing | Databases | Classification | Aging | Genetics | Software | Mutation | Diagnosis | Deoxyribonucleic acid--DNA | Index Medicus
Journal Article
Human mutation, ISSN 1059-7794, 12/2016, Volume 37, Issue 12, pp. 1340 - 1353
exome sequencing | ataxia | mini‐exome | copy number variations | molecular diagnosis | trinucleotide repeat expansion | mini-exome | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetic Predisposition to Disease | Humans | Peroxisomal Multifunctional Protein-2 - genetics | Cerebellar Ataxia - etiology | Child, Preschool | Male | DNA-Binding Proteins - genetics | DNA Copy Number Variations | Membrane Glycoproteins - genetics | Exome | Young Adult | Carrier Proteins - genetics | Cerebellar Ataxia - genetics | Adolescent | Age of Onset | Adult | Female | Ataxia Telangiectasia Mutated Proteins - genetics | High-Throughput Nucleotide Sequencing - methods | Child | Sequence Analysis, DNA - methods | Genetic research | Genetic aspects | Information management | Analysis | Genes | Ataxia | Genetic disorders | Algorithms | Mutation | Genomics | Index Medicus | Life Sciences | Genetics | Human genetics
Journal Article
Ophthalmologica (Basel), ISSN 0030-3755, 03/2011, Volume 225, Issue 3, pp. 127 - 134
EURETINA - Review | Axial length | Genetics | Myopia | Refractive error | Endophenotype | Life Sciences & Biomedicine | Ophthalmology | Science & Technology | Vision disorders | Biological and medical sciences | Miscellaneous | Medical sciences | Myopia - genetics | Animals | Prevalence | Axial Length, Eye - pathology | Humans | Myopia - diagnosis | Biomedical Research | Disease Models, Animal | Myopia - epidemiology | Index Medicus
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