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Recurrent Cerebral Ischemia During Pregnancies
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Spectrum of Neuroradiologic Findings Associated with Monogenic Interferonopathies
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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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Von Hippel-Lindau Disease Affecting 43 Members of a Single Kindred
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Anderson-Fabray Disease, A Commonly Missed Diagnosis
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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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Neurological Management of Von Hippel-Lindau Disease
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Molybdenum Cofactor Deficiency
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Diagnosis and Therapy in Neuromuscular Disorders: Diagnosis and New Treatments in Mitochondrial Diseases
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Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
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Prader-Willi and Angelman Syndromes
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Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
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Myotonic Dystrophy
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Genetic Diagnosis of Gaucher's Disease
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Causal Heterogeneity in Isolated Lissencephaly
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