Von Hippel-Lindau Disease Affecting 43 Members of a Single Kindred
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Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
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Fragile X-Associated Tremor or Ataxia Syndrome in a Patient with Difficulty Walking, Falls, a Tremor, and Erectile Dysfunction
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Spinal Muscular Atrophy
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Molecular Diagnostic Yield of Exome Sequencing in Patients with Cerebral Palsy
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Recurrent Cerebral Ischemia During Pregnancies
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Use of MRI in the Diagnosis of Fetal Brain Abnormalities in Utero (MERIDIAN): A Multicentre, Prospective Cohort Study
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Clinicopathologic Conference, Vascular Malformations in Liver, Stomach, Esophagus, and Lungs that are Consistent with Hereditary Hemorrhagic Telangiectasia, Complicated
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A 10-year-old boy with Bilateral Vision Loss
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Spinocerebellar Ataxia Type 2: Clinicogenetic Aspects, Mechanistic Insights, and Management Approaches
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Molybdenum Cofactor Deficiency
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Genetic Aspects of Alzheimer Disease
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Autism
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Clinicopath Conf, Dopamine-Responsive-Dystonia Caused by a Mutation in the GCH1 Gene
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The Tuberous Sclerosis Complex
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Adrenoleukodystrophy
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Progressive Myoclonic Epilepsies: A Review of Genetic and Therapeutic Aspects
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Impact of Presymptomatic Genetic Testing for Hereditary Ataxia and Neuromuscular Disorders
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Prader-Willi and Angelman Syndromes
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The Muscular Dystrophies
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Practice Parameter,Management Issues for Women with Epilepsy (Summary Statement)
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Few Psychological Consequences of Presymptomatic Testing for Huntington Disease
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The Clinical Introduction of Genetic Testing for Alzheimer Disease, An Ethical Perspective
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X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
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Genetic Testing for Alzheimer Disease, Practical and Ethical Issues
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Apolipoprotein E Genotyping in Alzheimer's Disease
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Hereditary Spastic Paraplegia:Advances in Genetic Research
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Genetic Factors in Alzheimer's Disease:A Review of Recent Advances
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Practice Parameter:Genetic Testing Alert
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Presymptomatic Diagnosis of Neurofibromatosis 2 Using Linked Genetic Markers, Neuroimging, and Ocular Examinations
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Gene Analysis of L1 Neural Cell Adhesion Molecule in Prenatal Diagnosis of Hydrocephalus
Lancet 345:161-162, Jouet,M.&Kenwrick,S., 1995
Statement of Use of Apolipoprotein E Testing for Alzheimer Disease
JAMA 274:1627-1629, Farrer,L.A.,et al, 1995
Cerebrotendinous Xanthomatosis:Molecular Diagnosis Enables Presymptomatic Detection of a Treatable Disease
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Clinical Genetics in Neurological Disease
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A Worldwide Study of the Huntington's Disease Mutation, The Sensitivity & Specificity of Measuring CAG Repeats
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Myotonic Dystrophy
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Experience with Screening Newborns for Duchenne Muscular Dystrophy in Wales
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The DNA Laboratory and Neurolgoical Practice
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Rapid Fragile X Carrier Screening and Prenatal Diagnosis Using a Nonradioactive PCR Test
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Tay-Sachs Disease-Carrier Screening, Prenatal Diagnosis, and the Molecular Era
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GM1 Gangliosidosis in Adults:Clinical and Molecular Analysis of 16 Japanese Patients
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The First Decade of Molecular Genetics in Neurology:Changing Clinical Thought and Practice
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Duplication of Part of Chromosome 17 is Commonly Associated with HMSN Type I (Charcot-Marie-Tooth Disease Type 1)
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De-Novo Mutation in Hereditary Motor and Sensory Neuropathy Type I
Lancet 339:1081-1082, Hoogendijk,J.E.,et al, 1992
Genetic Diagnosis of Gaucher's Disease
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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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Direct Diagnosis by DNA Analysis of the Fragile X Syndrome of Mental Retardation
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