Molecular Genetic Advances in Fragile X Syndrome
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Prenatal Diagnosis of Fragile X Syndrome by Direct Detection of the Unstable DNA Sequence
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Retinitis Pigmentosa
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Molecular Genetics in Neurology
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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
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Hunter Disease (Mucopolysaccharidosis Type II) in a Karyotypically Normal Girl
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Diagnosis of Gerstmann-Straussler Syndrome in Familial Dementia with Prion Protein Gene Analysis
Lancet 2:15-17, Collinge,J.,et al, 1989
Familial Paroxysmal Dystonic Choreoathetosis,Clinical Findings in a Large Japanese Family and Genetic Linkage to 2q
Arch Neurol 56:721-726, Matsuo,H.,et al, 1999
Clinical Genetics in Neurological Disease
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The DNA Laboratory and Neurolgoical Practice
JNNP 56:229-233, Harding,A., 1993
The First Decade of Molecular Genetics in Neurology:Changing Clinical Thought and Practice
Ann Neurol 32:207-214, Rowland,L.P., 1992
Linkage of DNA Markers at Xq28 to Adrenoleukodystrophy & Adrenomyeloneuropathy Present in the Same Family
Arch Neurol 47:665-669, Willems,P.J.,et al, 1990
Molecular Genetics of Duchenne and Becker Muscular Dystrophy
J Pediatr 117:1-15, Darras,B.T., 1990
Von Hippel-Lindau Disease Affecting 43 Members of a Single Kindred
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