Molecular Diagnostic Yield of Exome Sequencing in Patients with Cerebral Palsy
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Ehlers-Danlos Syndromes
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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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Progressive Myoclonic Epilepsies: A Review of Genetic and Therapeutic Aspects
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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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The Muscular Dystrophies
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Charcot-Marie-Tooth Disease and Related Inherited Neuropathies
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Presymptomatic Diagnosis of Neurofibromatosis 2 Using Linked Genetic Markers, Neuroimging, and Ocular Examinations
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Charcot-Marie-Tooth Neuropathies:From Clinical Description to Molecular Genetics
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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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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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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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Unstable DNA Sequence in Myotonic Dystrophy
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Genetic Diagnosis of Gaucher's Disease
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Causal Heterogeneity in Isolated Lissencephaly
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Population Screening for Fragile X
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Mitochondril Encephalopathies:Molecular Genetic Diagnosis from Blood Samples
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Clinical Genetics and Genetic Counseling in Alzheimer Disease
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Molecular Genetics of Duchenne and Becker Muscular Dystrophy
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Molecular Genetics of Amyloid Neuropathy in Europe
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Molecular Biology of Duchenne and Becker's Muscular Dystrophy:Clinical Applications
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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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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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Recurrent Cerebral Ischemia During Pregnancies
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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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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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Adrenoleukodystrophy
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