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Huntington Disease: Clinical Features and Diagnosis
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The Expanding Phenotype of GLUT1-Deficiency Syndrome
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Neuroblastoma -- from Genetic Profiles to Clinical Challenge
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Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Cockayne Syndrome: Review of 140 Cases
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