Cerebral Abnormalities in Adults with Ataxia-Telangiectasia
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A 23-Year-Old Man With Seizures and Visual Deficit
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Infantile Neuroaxonal Dystrophy,Clinical Spectrum and Diagnostic Criteria
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Adult-Onset Neimann-Pick Type C Disease, Clinical, Biochemical and Genetic Study
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Angelman Syndrome: Clinical Profile
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