Molecular Genetic Advances in Fragile X Syndrome
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Hunter Disease (Mucopolysaccharidosis Type II) in a Karyotypically Normal Girl
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Strong Clustering and Stereotyped Nature of Notch3 Mutations, in CADASIL Patients
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Misdiagnosis Revealed by Genetic Linkage Analysis in a Family with Wilson Disease
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Familial Creutzfeldt-Jakob Disease (Codon 200 Mutation) with Supranuclear Palsy
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Prion Dementia Without Characteristic Pathology
Lancet 336:7-9, 21-221990., Collinge,J.,et al, 1990
Diagnosis of Gerstmann-Straussler Syndrome in Familial Dementia with Prion Protein Gene Analysis
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