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Item Type | Name |
Concept
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Prenatal Diagnosis
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Concept
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Diagnosis, Differential
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Concept
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Diagnosis, Computer-Assisted
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Concept
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Early Diagnosis
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Academic Article
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Characterization and Early Detection of Balance Deficits in Fragile X Premutation Carriers With and Without Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS).
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Academic Article
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Initial diagnoses given to persons with the fragile X associated tremor/ataxia syndrome (FXTAS).
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Academic Article
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Implementation of a markerless motion analysis method to quantify hyperkinesis in males with fragile X syndrome.
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Academic Article
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Fragile X Newborn Screening: Lessons Learned From a Multisite Screening Study.
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Academic Article
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Climbing the branches of a family tree: diagnosis of fragile X syndrome.
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Academic Article
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Newborn, carrier, and early childhood screening recommendations for fragile X.
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Academic Article
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Congenital central hypoventilation syndrome with PHOX2B gene mutation: are we missing the diagnosis?
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Academic Article
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Comparison of PHOX2B testing methods in the diagnosis of congenital central hypoventilation syndrome and mosaic carriers.
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Academic Article
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Seizures in fragile X syndrome: characteristics and comorbid diagnoses.
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Academic Article
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[ATS clinical policy statement: congenital central hypoventilation syndrome. Genetic basis, diagnosis and management].
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Academic Article
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An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management.
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Academic Article
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Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation presenting in childhood.
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Academic Article
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A review of fragile X premutation disorders: expanding the psychiatric perspective.
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Academic Article
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A comparative neuropsychological test battery differentiates cognitive signatures of Fragile X and Down syndrome.
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Academic Article
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Prenatal testing for late infantile neuronal ceroid lipofuscinosis.
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Academic Article
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Diagnosis of niemann-pick C1 by measurement of bile acid biomarkers in archived newborn dried blood spots.
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Academic Article
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Improving the Diagnosis of Autism Spectrum Disorder in Fragile X Syndrome by Adapting the Social Communication Questionnaire and the Social Responsiveness Scale-2.
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Academic Article
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Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease.
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Academic Article
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Application of a glycinated bile acid biomarker for diagnosis and assessment of response to treatment in Niemann-pick disease type C1.
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Academic Article
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Diagnostic profile of the AmplideX Fragile X Dx and Carrier Screen Kit for diagnosis and screening of fragile X syndrome and other FMR1-related disorders.
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Academic Article
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Niemann-Pick Disease, Type C: Diagnosis, Management and Disease-Targeted Therapies in Development.
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