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Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
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A 58-year-old Man with Hand Tremor and Episodes of Neck Pain
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A Child with Delayed Motor Milestones and Ptosis
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A Neonate with Micrognathia and Hypotonia
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Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
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Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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Aicardi-Gouti�res Syndrome
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Wilson Disease: Description of 282 Patients Evaluated Over 3 Decades
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New Developments in the Neurobiology of the Tuberous Sclerosis Complex
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Distal Myopathies:Clinical and Molecular Diagnosis and Classification
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A Simplified Six-Item Checklist for Screening for Fragile X Syndrome in the Pediatric Population
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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