The Ever-Expanding Spectrum of Congenital Muscular Dystrophies
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Overview of Phenylketonuria
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Phenylketonuria
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Canavan Disease:From Spongy Degeneration to Molecular Analysis
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MRI of White Matter Changes in the Sjogren-Larsson Syndrome
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Serial MRI in Fukuyama Type Congenital Muscular Dystrophy
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Alexander's Disease, A Disease of Astrocytes
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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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Extension of the Clinical Spectrum of Danon Disease
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Angelman Syndrome Revisited
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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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New Developments in the Neurobiology of the Tuberous Sclerosis Complex
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Prader-Willi and Angelman Syndromes
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Mucolipidosis Type IV; Characteristic MRI Findings
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Chromosome 20 Ring:A Chromosomal Disorder Associated with a Particular Electroclinical Pattern
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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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The Epilepsy of Trisomy 9p
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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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Diagnostic Test for the Prader-Willi Syndrome by SNRPN Expression in Blood
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A Simplified Six-Item Checklist for Screening for Fragile X Syndrome in the Pediatric Population
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Gene Analysis of L1 Neural Cell Adhesion Molecule in Prenatal Diagnosis of Hydrocephalus
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Hereditary Sensory and Autonomic Neuropathy with Cataracts, Mental Retardation, and Skin Lesions:Five Cases
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Advances in Molecular Analysis of Fragile X Syndrome
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Methylmercury Poisoning:Long-Term Clinical, Radiological, Toxicological, and Pathological Studies of an Affected Family
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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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Rapid Fragile X Carrier Screening and Prenatal Diagnosis Using a Nonradioactive PCR Test
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Choroido-Cerebral Calcification Syndrome with Retardation
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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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