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Von Recklinghausen's Neurofibromatosis: Neurofibromatosis Type 1
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Hearing Loss is a Common Feature of Symptomatic Children with Profound Biotinidase Deficiency
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Hereditary Recurrent Focal Neuropathies, Clinical and Molecular Features
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New Developments in the Neurobiology of the Tuberous Sclerosis Complex
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Exercise Intolerance Due to Mutations in the Cytochrome b Gene of Mitochondrial DNA
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Prader-Willi and Angelman Syndromes
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Genetic Analysis Enables Definite and Rapid Diagnosis of Cerebrotendinous Xanthomatosis
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