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Clinicopath Conf, Dopamine-Responsive-Dystonia Caused by a Mutation in the GCH1 Gene
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Clinical and Electrodignostic Features of X-Linked Recessive Bulbospinal Neuronopathy
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Direct Diagnosis by DNA Analysis of the Fragile X Syndrome of Mental Retardation
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Molecular Genetics of Duchenne and Becker Muscular Dystrophy
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Von Hippel-Lindau Disease Affecting 43 Members of a Single Kindred
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Distinction of Becker from Limb-Girdle Muscular Dystrophy by Means of Dystrophin cDNA Probes
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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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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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Recurrent Cerebral Ischemia During Pregnancies
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Ehlers-Danlos Syndromes
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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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Neurological Management of Von Hippel-Lindau Disease
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Molybdenum Cofactor Deficiency
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A 52-year-old Woman with Progressive Proximal Weakness
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Absence Epilepsies With Widely Variable Onset are a Key Feature of Familial GLUT1 Deficiency
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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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The Tuberous Sclerosis Complex
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Sensorineural Hearing Loss in Children
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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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Friedreich Ataxia
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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The DYT1 Phenotype and Guidelines for Diagnostic Testing
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Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
Pediatrics 102:98-100, Cabana,M.D.,et al, 1998
Prader-Willi and Angelman Syndromes
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Creutzfeldt-Jakob Disease and Related Transmissible Spongiform Encephalopathies
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The Muscular Dystrophies
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Analysis of Prenatal and Gestational Care Given to Women with Epilepsy
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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
Lancet 349:4, Bundey,S., 1997
The Clinical Introduction of Genetic Testing for Alzheimer Disease, An Ethical Perspective
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