Clinicopath Conf, Dopamine-Responsive-Dystonia Caused by a Mutation in the GCH1 Gene
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Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
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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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Ehlers-Danlos Syndromes
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A 10-year-old boy with Bilateral Vision Loss
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Molybdenum Cofactor Deficiency
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Autism
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The Tuberous Sclerosis Complex
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Adrenoleukodystrophy
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Friedreich Ataxia
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Prader-Willi and Angelman Syndromes
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Creutzfeldt-Jakob Disease and Related Transmissible Spongiform Encephalopathies
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X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
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Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
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Niemann-Pick Disease Type C from Bench to Bedside
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Practice Parameter:Genetic Testing Alert
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Gene Analysis of L1 Neural Cell Adhesion Molecule in Prenatal Diagnosis of Hydrocephalus
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Apolipoprotein E Genotype in Patients with Alzheimer's Disease:Implications for Risk of Dementia Among Relatives
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Cerebrotendinous Xanthomatosis:Molecular Diagnosis Enables Presymptomatic Detection of a Treatable Disease
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Clinical Genetics in Neurological Disease
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The DNA Laboratory and Neurolgoical Practice
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Lissencephaly:A Human Brain Malformation Associated with Deletion of the LIS1 Gene Located at Chromosome 17p13
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Rapid Fragile X Carrier Screening and Prenatal Diagnosis Using a Nonradioactive PCR Test
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The First Decade of Molecular Genetics in Neurology:Changing Clinical Thought and Practice
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Causal Heterogeneity in Isolated Lissencephaly
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Population Screening for Fragile X
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A Clinical Study of Noonan Syndrome
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Lisch Nodules in Neurofibromatosis Type I
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Direct Diagnosis by DNA Analysis of the Fragile X Syndrome of Mental Retardation
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Diagnosis of Gerstmann-Straussler Syndrome in Familial Dementia with Prion Protein Gene Analysis
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Preventive Screening for Fragile X Syndrome
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Recognising & Preventing Duchenne Muscular Dystrophy
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Fragile X Chromosome & X-Linked Mental Retardation
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Spectrum of Neuroradiologic Findings Associated with Monogenic Interferonopathies
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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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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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Spinocerebellar Ataxia Type 2: Clinicogenetic Aspects, Mechanistic Insights, and Management Approaches
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Neurological Management of Von Hippel-Lindau Disease
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A 52-year-old Woman with Progressive Proximal Weakness
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Genetic Aspects of Alzheimer Disease
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Diagnosis and Therapy in Neuromuscular Disorders: Diagnosis and New Treatments in Mitochondrial Diseases
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Epilepsy in Pregnancy
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Sensorineural Hearing Loss in Children
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