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Berry-Kravis, Elizabeth

One or more keywords matched the following items that are connected to Berry-Kravis, Elizabeth

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

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Diagnosis