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Neurofibromatosis Type 2
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Variable Presentation of Brugada Syndrome: Lessons from Three Generations with Syncope
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Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
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Autosomal Dominant Migraine with MRI White-Matter Abnormalities Mapping to the CADASIL Locus
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Clinical Spectrum of CADASIL:A Study of 7 Families
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New Phenotype of the Cerebral Autosomal Dominant Arteriopathy Mapped to Chromosome 19:Migraine as the Prominent Clinical Feature
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Corneal Opacification in Infancy
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The Cornelia de Lange Syndrome
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