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Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
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Wilson Disease
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Homing in on Wilson's Disease
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Mendelian Etiologies of Stroke
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Diagnosis of Treatable Wilson's Disease
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Neurologic Aspects of Hereditary Hemorrhagic Telangiectasia
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Angiokeratoma Corporis Diffusum
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Adult Patient Presenting with Spine Pain Following a Motor Vehicle Accident
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Clinicopathologic Conference,Aceruloplasminemia, Hereditary
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Characyeristic features and progression of abnormalities on MRI for CARASIL
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Molybdenum Cofactor Deficiency
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Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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The Expanding Phenotype of GLUT1-Deficiency Syndrome
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Distribution of Cranial MRI Abnormalities in Patients with Symptomatic and Subclinical CADASIL
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Acute Intermittent Porphyria:Clinicopathologic Correlation
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Girls with Fragile X Syndrome:Physical and Neurocognitive Status and Outcome
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More Bad Luck for the X Chromosome:Thalassaemia/Mental Retardation
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Neurologic Crises in Hereditary Tyrosinemia
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Hematologic Disorders and Ischemic Stroke
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Von Hippel-Lindau Disease Affecting 43 Members of a Single Kindred
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Neurological Findings in Patients with the Fragile-X Syndrome
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Clin. Path. Conference
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Fragile X Chromosome & X-Linked Mental Retardation
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Marfan's Syndrome
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Normal Pressure Hydrocephalus, Recog & Relation to Neuro Abnormalities in Cockayne's Sydrome
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Familiar Basilar Impression
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