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The Tuberous Sclerosis Complex
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The Clinical Introduction of Genetic Testing for Alzheimer Disease, An Ethical Perspective
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Myotonic Dystrophy
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Ehlers-Danlos Syndromes
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Autism
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Epilepsy in Pregnancy
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Sensorineural Hearing Loss in Children
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Adrenoleukodystrophy
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
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Creutzfeldt-Jakob Disease and Related Transmissible Spongiform Encephalopathies
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The Muscular Dystrophies
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Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
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Niemann-Pick Disease Type C from Bench to Bedside
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The Psychological Consequences of Predictive Testing for Huntington's Disease
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