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A 44-Year-Old Man with Eye, Kidney, and Brain Dysfunction
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Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
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Hereditary Infantile Hemiparesis, Retinal Arteriolar Tortuosity, and Leukoencephalopathy
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Mucolipidosis Type IV; Characteristic MRI Findings
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Mitochondrial DNA and Disease
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Acquired Ocular Visual Impairment in Children, 1960-1989
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Facioscapulohumeral Dystrophy, In Skeletal Muscle Pathology
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Cockayne Syndrome: Review of 140 Cases
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A Familial Syndrome of Dystonia, Blepharospasm, and Pigmentary Retinopathy
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Retinitis Pigmentosa
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Pseudoxanthoma Elasticum:A Review of Neurological Complications
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Normal Pressure Hydrocephalus, Recog & Relation to Neuro Abnormalities in Cockayne's Sydrome
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Genetic Counseling in Retinitis Pigmentosa
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