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Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
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Spinal Muscular Atrophy
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Molybdenum Cofactor Deficiency
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Clinicopath Conf, Dopamine-Responsive-Dystonia Caused by a Mutation in the GCH1 Gene
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Niemann-Pick Disease Type C from Bench to Bedside
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Cerebrotendinous Xanthomatosis:Molecular Diagnosis Enables Presymptomatic Detection of a Treatable Disease
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Causal Heterogeneity in Isolated Lissencephaly
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