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Haverfield, Eden

One or more keywords matched the following items that are connected to Haverfield, Eden

Item Type	Name
Concept	Alleles
Concept	Base Sequence
Concept	Genes
Concept	Molecular Sequence Data
Concept	Genome
Concept	Sequence Analysis, DNA
Concept	Exome
Concept	High-Throughput Nucleotide Sequencing
Concept	Polymorphism, Single Nucleotide
Academic Article	UGT1A1 variation and gallstone formation in sickle cell disease.
Academic Article	Nonspecific phenotype of Noonan syndrome diagnosed by whole exome sequencing.
Academic Article	Molecular confirmation of nine cases of Cornelia de Lange syndrome diagnosed prenatally.
Academic Article	Assessing copy number from exome sequencing and exome array CGH based on CNV spectrum in a large clinical cohort.
Academic Article	Whole-Exome Sequencing Reveals CLCNKB Mutations in a Case of Sudden Unexpected Infant Death.
Academic Article	Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.
Academic Article	Clinical and Counseling Experiences of Early Adopters of Whole Exome Sequencing.
Academic Article	Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder.
Academic Article	Clinical application of whole-exome sequencing across clinical indications.
Academic Article	Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis.
Academic Article	Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.

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