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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	Infant, Newborn
Academic Article	Sudden infant death syndrome: case-control frequency differences at genes pertinent to early autonomic nervous system embryologic development.
Academic Article	Fragile X Newborn Screening: Lessons Learned From a Multisite Screening Study.
Academic Article	FORWARD: A Registry and Longitudinal Clinical Database to Study Fragile X Syndrome.
Academic Article	Development of a bile acid-based newborn screen for Niemann-Pick disease type C.
Academic Article	Maternal Consequences of the Detection of Fragile X Carriers in Newborn Screening.
Academic Article	FMR1 CGG allele size and prevalence ascertained through newborn screening in the United States.
Academic Article	Newborn, carrier, and early childhood screening recommendations for fragile X.
Academic Article	A triple threat: Down syndrome, congenital central hypoventilation syndrome, and Hirschsprung disease.
Academic Article	Congenital central hypoventilation syndrome with PHOX2B gene mutation: are we missing the diagnosis?
Academic Article	Germline mosaicism of PHOX2B mutation accounts for familial recurrence of congenital central hypoventilation syndrome (CCHS).
Academic Article	[ATS clinical policy statement: congenital central hypoventilation syndrome. Genetic basis, diagnosis and management].
Academic Article	Congenital central hypoventilation syndrome from past to future: model for translational and transitional autonomic medicine.
Academic Article	Sudden Infant Death Syndrome: review of implicated genetic factors.
Academic Article	In pursuit (and discovery) of a genetic basis for congenital central hypoventilation syndrome.
Academic Article	New Pvu II mitochondrial polymorphism in a mother and son of Indian ancestry.
Academic Article	Two patients with overlapping de novo duplications of the long arm of chromosome 9, including one case with Di George sequence.
Academic Article	X-linked lissencephaly with absent corpus callosum and ambiguous genitalia.
Academic Article	Diagnosis of niemann-pick C1 by measurement of bile acid biomarkers in archived newborn dried blood spots.
Academic Article	Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease.

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Infant Newborn