Presymptomatic Diagnosis of Neurofibromatosis 2 Using Linked Genetic Markers, Neuroimging, and Ocular Examinations
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Retinitis Pigmentosa
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Misdiagnosis Revealed by Genetic Linkage Analysis in a Family with Wilson Disease
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Genetic Factors in Alzheimer's Disease:A Review of Recent Advances
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Clinical Genetics in Neurological Disease
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DNA Analysis in Finnish Patients with Hereditary Neuropathy with Liability to Pressure Palsies (HNPP)
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DNA Diagnosis of Neurofibromatosis 2:Altered Coding Sequence of the Merlin Tumor Suppressor in an Extended Pedigree
JAMA 270:2316-2320, MacCollin,M.,et al, 1993
Screening for von Hippel-Lindau Disease by DNA Polymorphism Analysis
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The First Decade of Molecular Genetics in Neurology:Changing Clinical Thought and Practice
Ann Neurol 32:207-214, Rowland,L.P., 1992
Familial Creutzfeldt-Jakob Disease (Codon 200 Mutation) with Supranuclear Palsy
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Prenatal Diagnosis of Fragile X Syndrome by Direct Detection of the Unstable DNA Sequence
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Dystonia Gene in Ashkenazi Jewish Population is Located on Chromosome 9q32-34
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Neurofibromatosis 2 (Bilateral Acoustic Neurofibromatosis) An Update
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Genetic Testing for Huntington's Disease
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Molecular Genetics of Duchenne and Becker Muscular Dystrophy
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Hunter Disease (Mucopolysaccharidosis Type II) in a Karyotypically Normal Girl
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Predictive Testing for Huntington's Disease with Linked DNA Markers
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Uptake of Presymptomatic Predictive Testing for Huntington's Disease
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Predictive Testing for Huntington's Disease with Use of a Linked DNA Marker
NEJM 318:535-542, Meissen,G.J.,et al, 1988
The Molecular Genetic Revolution, Its Impact on Clinical Neurology
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Genetic Linkage in Neurologic Diseases
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