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Cockayne Syndrome:Unusual Neuropathological Findings & Review of the Literature
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Neurological Complications of Infantile Osteopetrosis
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Newborn Screening for Fragile X Syndrome
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Diagnostic Exome, Sequencing in Persons with Severe Intellectual Disability
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Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
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Extension of the Clinical Spectrum of Danon Disease
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Mental Retardation
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The X-Linked Infantile Spasms Syndrome (MIM 308350) Maps to Xp11. 4-Xpter in Two Pedigrees
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Bilat Periventricular Nodular Heterotopia with Mental Retard & Syndactyly in Boys:New X-Linked MR Synd
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Cognitive Dysfunction as the Major Presenting Feature of Becker's Muscular Dystrophy
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Intelligence and the X Chromosome
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X-Linked Malformation of Neuronal Migration
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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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Rapid Antibody Test for Fragile X Syndrome
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Advances in Molecular Analysis of Fragile X Syndrome
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Do Young Boys with Fragile X Syndrome have Macroorchidism
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Molecular Genetic Advances in Fragile X Syndrome
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Rapid Fragile X Carrier Screening and Prenatal Diagnosis Using a Nonradioactive PCR Test
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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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Population Screening for Fragile X
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Mental Retardation in Turner Syndrome
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Direct Diagnosis by DNA Analysis of the Fragile X Syndrome of Mental Retardation
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Prenatal Diagnosis of Fragile X Syndrome by Direct Detection of the Unstable DNA Sequence
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Retinitis Pigmentosa
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Clinicopath Conf
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Preventive Screening for Fragile X Syndrome
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Ultrastructural, Neurological, & Glycosaminoglycan Abnormalities in Lowe's Syndrome
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Fragile X Chromosome & X-Linked Mental Retardation
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Prenatal Diagnosis of Fragile X Chromosome
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X-Linked Mental Retardation
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The Fragile X-Chromosome Mental Retardation & Large Testes
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