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Neurofibromatosis Type 2
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Wilson Disease
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Wilson's Disease:Current Status
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Retinitis Pigmentosa
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Genetic Counseling in Retinitis Pigmentosa
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Cogan Syndrome An Analysis of Reported Neurological Manifestations
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Mitochondrial DNA and Disease
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Long-Term Treatment of Cerebrotendinous Xanthomatosis with Chenodeoxycholic Acid
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Clinical Reasoning: A Case of Treatable Spastic Paraparesis
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Clinicopath Conf, Bilateral, Diffuse Uveal Melanocytic Proliferation, Metastatic Endometrial Carcinoma
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Severe Neurologic Complications After Hematopoietic Stem Cell Transplantation in Children
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Turning a Blind Eye
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Hereditary Sensory and Autonomic Neuropathy with Cataracts, Mental Retardation, and Skin Lesions:Five Cases
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Takayasu's Arteritis
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A Disorder of Azonal Development, Necrotizing Myopathy, Cardiomyopathy, and Cataracts:A New Familial Disease
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Refsum Disease
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Peripheral Neuropathy in Cerebrotendinous Xanthomatosis
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A Familial Mitochondrial Myopathy With Central Defect in Neural Transmission
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Peripheral Neuropathy in Myotonic Dystrophy
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