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A Middle-aged Woman with Severe Scoliosis and Encephalopathy
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Huntington Disease: Clinical Features and Diagnosis
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Genetic Susceptibility to Stuttering
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Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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Genomewide Association Studies of Stroke
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Practice Parameter: Evaluation of the Child with Microcephaly (An Evidence-Based Review): Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society
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The Expanding Phenotype of GLUT1-Deficiency Syndrome
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Clinical Spectrum of Mutations in SCN1A Gene: Severe Myoclonic Epilepsy in Infancy and Related Epilepsies
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Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
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Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
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New Developments in the Neurobiology of the Tuberous Sclerosis Complex
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Genetic Studies on Chromosome 12 in Late-Onset Alzheimer Disease
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Evidence for an Alzheimer Disease Susceptability Locus on Chromosome 12 and for Further Locus Heterogeneity
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Chromosome 20 Ring:A Chromosomal Disorder Associated with a Particular Electroclinical Pattern
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The Expansion of the CAG Repeat in Ataxin-2 is a Frequent Cause of Autosomal Dominant Spinocerebellar Ataxia
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Intelligence and the X Chromosome
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The Epilepsy of Trisomy 9p
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X-Linked Malformation of Neuronal Migration
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The Inherited Ataxias and the New Genetics
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Dopamine, Dystonia, and the Deficient Co-Factor
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Spinocerebellar Ataxias and Ataxins
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Advances in Molecular Analysis of Fragile X Syndrome
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Molecular Genetic Advances in Fragile X Syndrome
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Lissencephaly:A Human Brain Malformation Associated with Deletion of the LIS1 Gene Located at Chromosome 17p13
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Girls with Fragile X Syndrome:Physical and Neurocognitive Status and Outcome
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New Research in Tuberous Sclerosis, Probably More Common with More Adult Complications
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Wilson Disease
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Causal Heterogeneity in Isolated Lissencephaly
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Population Screening for Fragile X
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Angelman Syndrome: Clinical Profile
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Cockayne Syndrome: Review of 140 Cases
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Mental Retardation in Turner Syndrome
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Fucosidosis Revisited:A Review of 77 Patients
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Neurological Findings in Patients with the Fragile-X Syndrome
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Colpocephaly:Clinical, Radiologic, & Pathogenetic Aspects
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X-Linked Mental Retardation
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The Fragile X-Chromosome Mental Retardation & Large Testes
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Prenatal Genetic Diagnosis in 3000 Amniocenteses
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The Cornelia de Lange Syndrome
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