Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
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Few Psychological Consequences of Presymptomatic Testing for Huntington Disease
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Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
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Genetics of Parkinsons Disease and Parkinsonism
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Malignant Hyperthermia, Update on Susceptibility Testing
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Penetrance of the Fragile X-Associated Tremor/Ataxia Syndrome in a Premutation Carrier Population
JAMA 291:460-469, Jacquemont,S.,et al, 2004
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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Girls with Fragile X Syndrome:Physical and Neurocognitive Status and Outcome
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Detection of Full Fragile X Mutation
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Detecting Susceptibility to Malignant Hyperthermia
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Population Screening for Fragile X
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