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International journal of molecular sciences, ISSN 1661-6596, 02/2017, Volume 18, Issue 2, pp. 441 - 441
Biochemistry & Molecular Biology | Physical Sciences | Chemistry | Life Sciences & Biomedicine | Chemistry, Multidisciplinary | Science & Technology | Monitoring, Physiologic | Prognosis | Metabolic Networks and Pathways | Models, Biological | Humans | Gaucher Disease - epidemiology | Gaucher Disease - physiopathology | Gaucher Disease - therapy | Gaucher Disease - diagnosis | Enzymes | Bone lesions | Mutation | Index Medicus | Life Sciences | Hematology | Human health and pathology | Gaucher disease | enzyme replacement therapy | GBA1 gene | lysosomal storage disease | biomarkers | substrate reduction therapy | Review | glucocerebrosidase
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Neurology, ISSN 0028-3878, 2009, Volume 73, Issue 12, pp. 962 - 969
Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Neurology | Biological and medical sciences | Medical sciences | Diseases of striated muscles. Neuromuscular diseases | Genetic Testing | Microcephaly - genetics | Seizures - genetics | Humans | Child, Preschool | Infant | Male | Developmental Disabilities - genetics | Head - pathology | Intellectual Disability - genetics | Young Adult | Seizures - physiopathology | Pyramidal Tracts - physiopathology | DNA Mutational Analysis | Skull - pathology | Microcephaly - pathology | Skull - abnormalities | Head - diagnostic imaging | Adult | Female | Child | Developmental Disabilities - physiopathology | Genetic Predisposition to Disease - genetics | Genotype | Microcephaly - diagnostic imaging | Mutation - genetics | Nerve Tissue Proteins - genetics | Intellectual Disability - physiopathology | Radiography | Magnetic Resonance Imaging | Phenotype | Head - abnormalities | Skull - diagnostic imaging | Adolescent | Index Medicus | Abridged Index Medicus | Life Sciences | Genetics | Development Biology | Neurons and Cognition
Journal Article
Orphanet journal of rare diseases, ISSN 1750-1172, 2012, Volume 7, Issue 1, pp. 77 - 77
French Gaucher's Disease Registry | Enzyme-replacement therapy | Bone events | Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | France - epidemiology | Humans | Middle Aged | Child, Preschool | Gaucher Disease - epidemiology | Infant | Male | Gaucher Disease - complications | Gaucher Disease - pathology | Gaucher Disease - therapy | Incidence | Splenectomy | Young Adult | Adolescent | Adult | Female | Aged | Child | Infant, Newborn | Disease | Health insurance | Public health | Index Medicus | Life Sciences | Genetics | Research | French Gaucher’s Disease Registry
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Human genetics, ISSN 0340-6717, 04/2017, Volume 136, Issue 4, pp. 463 - 479
Journal Article | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Chromosome Deletion | Heterogeneous-Nuclear Ribonucleoproteins - genetics | Phenotype | Chromosomes, Human, Pair 1 | Humans | Repressor Proteins - genetics | Neurodevelopmental Disorders - genetics | Mutation | Gene mutations | Epilepsy | Surgery | Genes | Genetic research | Genetic aspects | Index Medicus | Life Sciences | Genetics | Original Investigation | Medicinsk genetik | Basic Medicine | Medical Genetics | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper
Journal Article
Orphanet journal of rare diseases, ISSN 1750-1172, 2012, Volume 7, Issue 1, pp. 18 - 18
Pontocerebellar hypoplasia | Array-CGH | Mosaicism | Microcephaly | CASK gene | Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Guanylate Kinases - genetics | Phenotype | Olivopontocerebellar Atrophies - genetics | Humans | Female | Male | Mutation | X Chromosome Inactivation | Care and treatment | Gene mutations | Patient outcomes | Nervous system | Degeneration | Genetic aspects | Diagnosis | Health aspects | Risk factors | Index Medicus | Life Sciences | Genetics | Research
Journal Article
Orphanet journal of rare diseases, ISSN 1750-1172, 07/2015, Volume 10, Issue 1, pp. 88 - 88
Locked-in-syndrome | Determinants | Anamnestic Comparative Self-Assessment | Quality of life | Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Sickness Impact Profile | Health Status Indicators | Humans | Middle Aged | Self Report | Male | Quadriplegia - psychology | Socioeconomic Factors | Health Surveys | Value of Life | Adult | Female | Surveys and Questionnaires | Quality of Life - psychology | Surveys | Care and treatment | Quadriplegia | Index Medicus | Life Sciences | Human health and pathology | Research
Journal Article
Genetics in medicine, ISSN 1098-3600, 03/2019, Volume 21, Issue 3, pp. 553 - 563
Cerebellar atrophy | Congenital ataxia | exome sequencing | Early infantile epileptic encephalopathies | Pathophysiology | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Ataxia - physiopathology | Genetic Predisposition to Disease - genetics | Humans | Child, Preschool | Genotype | Male | Spasms, Infantile - genetics | Mutation - genetics | Whole Exome Sequencing - methods | Genetic Heterogeneity | Young Adult | Exome - genetics | Phenotype | Cerebellar Ataxia - genetics | Adolescent | Female | Ataxia - genetics | France | Child | Cohort Studies | Ataxia | Index Medicus | Life Sciences | Genetics | Human genetics
Journal Article
Orphanet journal of rare diseases, ISSN 1750-1172, 2012, Volume 7, Issue 1, pp. 36 - 36
Miglustat | Niemann-Pick disease type C | Paediatric | Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Glycoproteins - genetics | Niemann-Pick Disease, Type C - drug therapy | Prospective Studies | Humans | Child, Preschool | Infant | Male | Treatment Outcome | Niemann-Pick Disease, Type C - physiopathology | Enzyme Inhibitors - therapeutic use | Membrane Glycoproteins - genetics | Enzyme Inhibitors - administration & dosage | 1-Deoxynojirimycin - therapeutic use | Carrier Proteins - genetics | Adolescent | Age of Onset | 1-Deoxynojirimycin - administration & dosage | 1-Deoxynojirimycin - analogs & derivatives | Female | France | Niemann-Pick Disease, Type C - genetics | Child | Cohort Studies | Pick's disease | Niemann-Pick disease | Medical research | Care and treatment | Nervous system diseases | Gene mutations | Cable television broadcasting industry | Medicine, Experimental | Development and progression | Research | Biotechnology industry | Disease | Meetings | Medical treatment | Genetics | Teenagers | Manuscripts | Pharmaceuticals | Index Medicus | Life Sciences
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