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Nature genetics, ISSN 1061-4036, 09/2009, Volume 41, Issue 9, pp. 1022 - 1026
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Biological and medical sciences | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Diseases of the osteoarticular system | Malformations and congenital and or hereditary diseases involving bones. Joint deformations | Humans | Actins - metabolism | Fluorescent Dyes - metabolism | Mutation, Missense | Noonan Syndrome - genetics | Indoles - metabolism | Myristic Acid - metabolism | Cell Nucleus - metabolism | Noonan Syndrome - metabolism | Cytoskeleton - metabolism | Germ-Line Mutation | Mutation | Hair - growth & development | Intracellular Signaling Peptides and Proteins - genetics | Fluorescent Antibody Technique, Indirect | Gene mutations | Noonan syndrome | Physiological aspects | Genetic aspects | Research | DNA binding proteins | Health aspects | Risk factors | Proteins | Signal transduction | Genotype & phenotype | Statistical analysis | Growth hormones | Statistical methods | Graph theory | Genetic testing | Index Medicus
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Nature genetics, ISSN 1061-4036, 08/2007, Volume 39, Issue 8, pp. 1007 - 1012
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Complex syndromes | Diseases of the osteoarticular system | Malformations and congenital and or hereditary diseases involving bones. Joint deformations | Medical genetics | Biological and medical sciences | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Protein Structure, Tertiary | Cardiomyopathy, Hypertrophic - genetics | Protein Tyrosine Phosphatase, Non-Receptor Type 11 | Proto-Oncogene Proteins c-raf - genetics | Signal Transduction | Cardiomyopathy, Hypertrophic - metabolism | Humans | LEOPARD Syndrome - metabolism | LEOPARD Syndrome - genetics | Cercopithecus aethiops | ras Proteins - metabolism | Mutation, Missense | Noonan Syndrome - genetics | Proto-Oncogene Proteins c-raf - metabolism | Protein Tyrosine Phosphatases - genetics | Animals | Transfection | Proto-Oncogene Proteins c-raf - chemistry | Noonan Syndrome - metabolism | COS Cells | Intracellular Signaling Peptides and Proteins - genetics | Complications and side effects | Cardiomyopathy, Hypertrophic | Gene mutations | Noonan syndrome | Genetic aspects | Diagnosis | Risk factors | Signal transduction | Genetics | Cardiovascular disease | Mutation | Developmental disabilities | Binding sites | Index Medicus
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Nature genetics, ISSN 1061-4036, 01/2007, Volume 39, Issue 1, pp. 75 - 79
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Biological and medical sciences | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Diseases of the osteoarticular system | Malformations and congenital and or hereditary diseases involving bones. Joint deformations | Animals | Genetic Testing | Transfection | Humans | SOS1 Protein - genetics | Cercopithecus aethiops | Models, Molecular | Mutation | DNA Mutational Analysis - methods | Noonan Syndrome - genetics | SOS1 Protein - chemistry | COS Cells | Complications and side effects | Diagnosis | Research | Gene mutations | Noonan syndrome | Risk factors | Heart | Genotype & phenotype | Birth defects | Genetic disorders | Index Medicus
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Muscle & nerve, ISSN 0148-639X, 07/2016, Volume 54, Issue 1, pp. 79 - 85
prophylactic therapy | glucocorticoid | Duchenne muscular dystrophy | bisphosphonate | bone | osteoporosis | risedronate | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Bone Density | Administration, Oral | Humans | Risedronate Sodium - administration & dosage | Adolescent | Female | Male | Bone Density Conservation Agents - administration & dosage | Muscular Dystrophy, Duchenne - prevention & control | Child | Cohort Studies | Osteoporosis | Corticosteroids | Bones | Density | Medicine, Preventive | Preventive health services | Index Medicus
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Congenital myopathies: Disorders of excitation-contraction coupling and muscle contraction
Nature reviews. Neurology, ISSN 1759-4758, 03/2018, Volume 14, Issue 3, pp. 151 - 167
Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Excitation Contraction Coupling - physiology | Myopathies, Structural, Congenital - physiopathology | Humans | Muscle Contraction - physiology | Myopathies, Structural, Congenital - therapy | Myopathies, Structural, Congenital - pathology | Myopathies, Structural, Congenital - genetics | Care and treatment | Muscle diseases | Genetic aspects | Research | Gene mutations | Congenital diseases | Mutation | Index Medicus
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Orphanet journal of rare diseases, ISSN 1750-1172, 2008, Volume 3, Issue 1, pp. 13 - 13
Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Face - abnormalities | Humans | LEOPARD Syndrome - genetics | Child, Preschool | LEOPARD Syndrome - epidemiology | LEOPARD Syndrome - diagnosis | Adult | Female | LEOPARD Syndrome - therapy | Mutation | Protein Tyrosine Phosphatase, Non-Receptor Type 11 - genetics | Skin - pathology | Cardiomyopathy, Hypertrophic - pathology | Care and treatment | Genetic disorders | Diagnosis | Risk factors | Index Medicus
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Genetics in medicine, ISSN 1098-3600, 12/2020, Volume 22, Issue 12, pp. 2029 - 2040
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Neurology, ISSN 0028-3878, 09/2018, Volume 91, Issue 13, pp. e1215 - e1219
Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Neuropsychological Tests | Young Adult | Cross-Sectional Studies | Humans | Adolescent | Child, Preschool | Male | Codon, Nonsense | Muscular Dystrophy, Duchenne - genetics | Memory, Short-Term | Muscular Dystrophy, Duchenne - psychology | Child | 91 | 146 | 185 | 227 | 54 | Medicin och hälsovetenskap
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