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Clinical Spectrum of Mutations in SCN1A Gene: Severe Myoclonic Epilepsy in Infancy and Related Epilepsies
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Infantile Bilateral Striatal Necrosis Maps to Chromosome 19q
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Autosomal Dominant Migraine with MRI White-Matter Abnormalities Mapping to the CADASIL Locus
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Charcot-Marie-Tooth Disease Type 1A:Association with a Spontaneous Point Mutation in the PMP22 Gene
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X-Chromosome Effects on Female Brain:A Magnetic Resonance Imaging Study of Turner's Syndrome
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Duplication of Part of Chromosome 17 is Commonly Associated with HMSN Type I (Charcot-Marie-Tooth Disease Type 1)
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