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Dopamine-Responsive Dystonia
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The Epilepsy of Trisomy 9p
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Causal Heterogeneity in Isolated Lissencephaly
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Angelman Syndrome: Clinical Profile
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Cockayne Syndrome: Review of 140 Cases
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Fucosidosis Revisited:A Review of 77 Patients
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Physical Features of Prader-Willi Syndrome in Neonates
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