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Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
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Fragile X-Associated Tremor or Ataxia Syndrome in a Patient with Difficulty Walking, Falls, a Tremor, and Erectile Dysfunction
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Molecular Diagnostic Yield of Exome Sequencing in Patients with Cerebral Palsy
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Recurrent Cerebral Ischemia During Pregnancies
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Clinicopathologic Conference, Vascular Malformations in Liver, Stomach, Esophagus, and Lungs that are Consistent with Hereditary Hemorrhagic Telangiectasia, Complicated
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
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Creutzfeldt-Jakob Disease and Related Transmissible Spongiform Encephalopathies
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Niemann-Pick Disease Type C from Bench to Bedside
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Lissencephaly:A Human Brain Malformation Associated with Deletion of the LIS1 Gene Located at Chromosome 17p13
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Causal Heterogeneity in Isolated Lissencephaly
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Anderson-Fabray Disease, A Commonly Missed Diagnosis
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