Presymptomatic Diagnosis of Neurofibromatosis 2 Using Linked Genetic Markers, Neuroimging, and Ocular Examinations
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Direct Diagnosis by DNA Analysis of the Fragile X Syndrome of Mental Retardation
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Unusual Variants of Alexander's Disease
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Misdiagnosis Revealed by Genetic Linkage Analysis in a Family with Wilson Disease
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A Simplified Six-Item Checklist for Screening for Fragile X Syndrome in the Pediatric Population
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Direct Diagnosis of Myotonic Dystrophy with a Disease-Specific DNA Marker
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The First Decade of Molecular Genetics in Neurology:Changing Clinical Thought and Practice
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De-Novo Mutation in Hereditary Motor and Sensory Neuropathy Type I
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Prenatal Diagnosis of Fragile X Syndrome by Direct Detection of the Unstable DNA Sequence
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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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Cytomegalovirus and Rasmussen's Encephalitis
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Molecular Biology of Duchenne and Becker's Muscular Dystrophy:Clinical Applications
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Genetic Markers for Neurofibromatosis
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Retinitis Pigmentosa
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Location of the Gene for X-Linked Spinal Muscular Atrophy
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