De-Novo Mutation in Hereditary Motor and Sensory Neuropathy Type I
Lancet 339:1081-1082, Hoogendijk,J.E.,et al, 1992
Retinitis Pigmentosa
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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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Presymptomatic Diagnosis of Neurofibromatosis 2 Using Linked Genetic Markers, Neuroimging, and Ocular Examinations
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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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Direct Diagnosis by DNA Analysis of the Fragile X Syndrome of Mental Retardation
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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
J Pediatr 117:1-15, Darras,B.T., 1990
Distinction of Becker from Limb-Girdle Muscular Dystrophy by Means of Dystrophin cDNA Probes
Lancet 1:466-468, Norman,A.,et al, 1989
Molecular Biology of Duchenne and Becker's Muscular Dystrophy:Clinical Applications
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Gene Studies in Newborn Males with Duchenne Muscular Dystrophy Detected by Neonatal Screening
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Genetic Markers for Neurofibromatosis
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Genetic Linkage in Neurologic Diseases
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Hereditary Motor & Sensory Neuropathy, X-Linked:A Half Century Follow-Up
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