A Case of Schwartz-Jampel Syndrome with Unusual Muscle Biopsy Findings
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A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
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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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Mitochondrial DNA and Disease
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Carbonic Anhydrase II Deficiency in 12 Families with Osteopetrosis with Renal Tubular Acidosis & Cerebral Calcification
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