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Neuroimaging Features of Biotinidase Deficiency
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The Autosomal Recessive Cerebellar Ataxias
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Familiality in Brain Tumors
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The Tuberous Sclerosis Complex
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Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
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Sensorineural Hearing Loss in Children
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Von Recklinghausen's Neurofibromatosis: Neurofibromatosis Type 1
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Distal Myopathies:Clinical and Molecular Diagnosis and Classification
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Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
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Clinical Genetics in Neurological Disease
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Charcot-Marie-Tooth Disease Type 1A:Association with a Spontaneous Point Mutation in the PMP22 Gene
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Leber's Hereditary Optic Neuropathy as a Cause of Severe Visual Loss in Childhood
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