Newborn Screening for Fragile X Syndrome
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Sturge-Weber Syndrome
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Diagnostic Exome, Sequencing in Persons with Severe Intellectual Disability
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Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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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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Overview of Phenylketonuria
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Angelman Syndrome Revisited
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Phenylketonuria
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The Tuberous Sclerosis Complex
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Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
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Mental Retardation
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Sjogren-Larsson Syndrome, Clinical and MRI/MRS Findings in FALDH-Deficient Patients
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Fluid Attenuation Inversion Recovery (FLAIR) Images of Dentatorubropalliodoluysian Atrophy:Case Report
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Prader-Willi and Angelman Syndromes
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Mucolipidosis Type IV; Characteristic MRI Findings
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The X-Linked Infantile Spasms Syndrome (MIM 308350) Maps to Xp11. 4-Xpter in Two Pedigrees
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Intelligence and the X Chromosome
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X-Linked Malformation of Neuronal Migration
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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A Simplified Six-Item Checklist for Screening for Fragile X Syndrome in the Pediatric Population
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Hereditary Sensory and Autonomic Neuropathy with Cataracts, Mental Retardation, and Skin Lesions:Five Cases
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Rapid Antibody Test for Fragile X Syndrome
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Canavan Disease:From Spongy Degeneration to Molecular Analysis
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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
JAMA 270:2838-2842, Dobyns,W.B.,et al, 1993
Rapid Fragile X Carrier Screening and Prenatal Diagnosis Using a Nonradioactive PCR Test
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Hypomelanosis of Ito
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Girls with Fragile X Syndrome:Physical and Neurocognitive Status and Outcome
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Detection of Full Fragile X Mutation
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New Research in Tuberous Sclerosis, Probably More Common with More Adult Complications
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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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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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MR of Progressive Neurodegenerative Change in Treated Menkes'Kinky Hair Disease
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Fucosidosis Revisited:A Review of 77 Patients
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The Marinesco-Sjogren Syndrome Examined by CT, MR, and 18F-2-Fluoro-2-Deoxy-D-Glucose & PET
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Congenital Muscular Dystrophy
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Rett Syndrome:Natural History and Management
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Cerebral Ventricular Dilation in Congenital Myotonic Dystrophy
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Chronic Demyelinating Peripheral Neuropathy in Cerebrotendinous Xanthomatosis
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Neurological Manifestations in Xeroderma Pigmentosum
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