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The Tuberous Sclerosis Complex
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What Level of Care for the Neurofibromatoses?
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Hereditary Hemorrhagic Telangiectasia
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Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm
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Clinical and Mutational Spectrum of Neurofibromatosis Type 1-Like Syndrome
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Diagnosis and Etiology of Congenital Muscular Dystrophy
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Tuberous Sclerosis
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Mitochondrial DNA Polymerase-y and Human Disease
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Progressive Myoclonic Epilepsies: A Review of Genetic and Therapeutic Aspects
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Myostatin Mutation Associated with Gross Muscle Hypertrophy in a Child
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Clinical and Genetic Aspects of Distal Myopathies
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Prader-Willi and Angelman Syndromes
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The Diagnostic Evaluation & Multidisciplinary Management of Neurofibromatosis 1 and Neurofibromatosis 2
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The Neurogenetic Genie:Testing for Huntington's Disease Mutation
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Familial Creutzfeldt-Jakob Disease (Codon 200 Mutation) with Supranuclear Palsy
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