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Prader-Willi and Angelman Syndromes
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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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Friedreich Ataxia
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Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
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Von Hippel-Lindau Disease Affecting 43 Members of a Single Kindred
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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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The Tuberous Sclerosis Complex
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Adrenoleukodystrophy
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