Rapid Antibody Test for Fragile X Syndrome
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Newborn Screening for Fragile X Syndrome
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Range of Genetic Mutations Associated with Severe Non-Syndromic Sporadic Intellectual Disability: An Exome Sequencing Study
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Diagnostic Exome, Sequencing in Persons with Severe Intellectual Disability
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The Tuberous Sclerosis Complex
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Penetrance of the Fragile X-Associated Tremor/Ataxia Syndrome in a Premutation Carrier Population
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Hearing Loss is a Common Feature of Symptomatic Children with Profound Biotinidase Deficiency
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A Simplified Six-Item Checklist for Screening for Fragile X Syndrome in the Pediatric Population
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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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Neurologic Crises in Hereditary Tyrosinemia
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Amaurotic Family Idiocy
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Screening for Inherited Metabolic Diseases in Adults with Neurological Disease
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Preventive Screening for the Fragile X Syndrome
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Preventive Screening for Fragile X Syndrome
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Screening for Inborn Errors of Metabolism Associated with Mental Deficiency or Neurologic Disorders or Both
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