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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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Direct Diagnosis by DNA Analysis of the Fragile X Syndrome of Mental Retardation
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Retinitis Pigmentosa
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A 26-Year-OldWoman with Headache and Eosinophilia
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Treatment and Outcomes of Cervical Artery Dissection in Adults:A Scientific Statement From the American Heart Association
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Genome Sequencing in the NICU and PICU is Here to Stay
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Recurrent Cerebral Ischemia During Pregnancies
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Spontaneous Intracerebral Hemorrhage
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Diagnosis and Treatment of Ischemic Stroke
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Strong Clustering and Stereotyped Nature of Notch3 Mutations, in CADASIL Patients
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Diagnosis of McArdle's Disease by Molecular Genetic Analysis of Blood
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Hereditary Spastic Paraplegia:Advances in Genetic Research
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Rapid Direct Diagnosis of Deletions Carriers of Duchenne and Becker Muscular Dystrophies
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Molecular Genetic Advances in Fragile X Syndrome
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Late-Onset Friedreich's Ataxia, Molecular Genetics, Clinical Neurophysiology, and Magnetic Resonance Imaging
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The DNA Laboratory and Neurolgoical Practice
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Molecular Genetic Heterogeneity of Myophosphorylase Deficiency (McArdle's Disease)
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Hyperkalemic Periodic Paralysis:Rapid Molecular Diag & Rela of Genotype to Phenotype in 12 Families
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Molecular Genetics in Neurology
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DNA Diagnosis of Neurofibromatosis 2:Altered Coding Sequence of the Merlin Tumor Suppressor in an Extended Pedigree
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Familial Neurofibromatosis Type 1:Clinical Experience with DNA Testing
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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