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A Middle-aged Woman with Severe Scoliosis and Encephalopathy
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A 40-Year-Old Woman Presenting with Distal Leg Weakness
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Short Stature, Imperforate Anus, and Polydactyly
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Disturbances of Cerebrospinal Fluid, Including Hydrocephalus, Pseudotumor Cerebri, and Low-Pressure Syndromes, Pseudotumor Cerebri
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Dopamine-Responsive Dystonia
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Clinicopath Conf., MELAS Syndrome
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Mitochondrial DNA and Disease
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A Clinical Study of Noonan Syndrome
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Craniopharyngyoma in Children
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Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, & Strokelike Episodes:A Distinctive Clinical Syndrome
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Osteopetrosis, Renal Tubular Acidosis & Basal Ganglia Calcification in Three Sisters
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