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Spinal Muscular Atrophy
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Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
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Few Psychological Consequences of Presymptomatic Testing for Huntington Disease
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Clinical Spectrum of CADASIL:A Study of 7 Families
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Molecular Genetic Advances in Fragile X Syndrome
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Molecular Genetics in Neurology
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Rapid Fragile X Carrier Screening and Prenatal Diagnosis Using a Nonradioactive PCR Test
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Detection of Full Fragile X Mutation
Lancet 339:271-272, Pergolizzi,R.G.,et al, 1992
Detecting Susceptibility to Malignant Hyperthermia
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Population Screening for Fragile X
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The Psychological Consequences of Predictive Testing for Huntington's Disease
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Neurologic Crises in Hereditary Tyrosinemia
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