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Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
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Recurrent Cerebral Ischemia During Pregnancies
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A 10-year-old boy with Bilateral Vision Loss
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Spinocerebellar Ataxia Type 2: Clinicogenetic Aspects, Mechanistic Insights, and Management Approaches
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Neurological Management of Von Hippel-Lindau Disease
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Molybdenum Cofactor Deficiency
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The Tuberous Sclerosis Complex
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Adrenoleukodystrophy
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Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
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Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
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Presymptomatic Diagnosis of Neurofibromatosis 2 Using Linked Genetic Markers, Neuroimging, and Ocular Examinations
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Causal Heterogeneity in Isolated Lissencephaly
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A Clinical Study of Noonan Syndrome
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Von Hippel-Lindau Disease Affecting 43 Members of a Single Kindred
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Neurofibromatosis 2 (Bilateral Acoustic Neuro-fibromatosis)
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Anderson-Fabray Disease, A Commonly Missed Diagnosis
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Clinical Spectrum of Hereditary Hemorrhagic Telangiectasia (Osler-Wever-Rendu Disease)
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