Molybdenum Cofactor Deficiency
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Progressive Myoclonic Epilepsies: A Review of Genetic and Therapeutic Aspects
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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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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
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Causal Heterogeneity in Isolated Lissencephaly
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A Clinical Study of Noonan Syndrome
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Mitochondril Encephalopathies:Molecular Genetic Diagnosis from Blood Samples
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Clinical Spectrum of Hereditary Hemorrhagic Telangiectasia (Osler-Wever-Rendu Disease)
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Neurological Findings in Patients with the Fragile-X Syndrome
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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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A 10-year-old boy with Bilateral Vision Loss
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Neurological Management of Von Hippel-Lindau Disease
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Absence Epilepsies With Widely Variable Onset are a Key Feature of Familial GLUT1 Deficiency
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Autism
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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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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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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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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Clinical Genetics in Neurological Disease
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Myotonic Dystrophy
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The Psychological Consequences of Predictive Testing for Huntington's Disease
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Von Hippel-Lindau Disease Affecting 43 Members of a Single Kindred
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Recognising & Preventing Duchenne Muscular Dystrophy
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Fragile X Chromosome & X-Linked Mental Retardation
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