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The Tuberous Sclerosis Complex
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Creutzfeldt-Jakob Disease and Related Transmissible Spongiform Encephalopathies
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A Clinical Study of Noonan Syndrome
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Neurofibromatosis 2 (Bilateral Acoustic Neuro-fibromatosis)
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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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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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Epilepsy in Pregnancy
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Progressive Myoclonic Epilepsies: A Review of Genetic and Therapeutic Aspects
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Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
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Analysis of Prenatal and Gestational Care Given to Women with Epilepsy
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Niemann-Pick Disease Type C from Bench to Bedside
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Cerebrotendinous Xanthomatosis:Molecular Diagnosis Enables Presymptomatic Detection of a Treatable Disease
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Myotonic Dystrophy
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Lissencephaly:A Human Brain Malformation Associated with Deletion of the LIS1 Gene Located at Chromosome 17p13
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Genetic Diagnosis of Gaucher's Disease
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Causal Heterogeneity in Isolated Lissencephaly
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Diagnosis of Gerstmann-Straussler Syndrome in Familial Dementia with Prion Protein Gene Analysis
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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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