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A 2-Year-Old Girl with Acute Encephalopathy After Febrile Systemic Illness
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Neuroimaging Features of Biotinidase Deficiency
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Sturge-Weber Syndrome
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Clinical Reasoning: A Case of Treatable Spastic Paraparesis
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Prader-Willi and Angelman Syndromes
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Creutzfeldt-Jakob Disease in a Young Woman
Lancet 347:945-948, Tabrizi,S.J.,et al, 1996
Mapping of Hereditary Neuralgic Amyotrophy (Familial Brachial Plexus Neuropathy) to Distal Chromosome 17q
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Hereditary Hemorrhagic Telangiectasia
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Wilson Disease
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