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The Ever-Expanding Spectrum of Congenital Muscular Dystrophies
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Extension of the Clinical Spectrum of Danon Disease
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Overview of Phenylketonuria
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Developmental Neurotoxivity of Industrial Chemicals
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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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Fluid Attenuation Inversion Recovery (FLAIR) Images of Dentatorubropalliodoluysian Atrophy:Case Report
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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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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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Molecular Genetic Advances in Fragile X Syndrome
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Alternating Hemiplegia of Childhood
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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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