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Haverfield, Eden
One or more keywords matched the following items that are connected to
Haverfield, Eden
Item Type
Name
Concept
Exome
Academic Article
Nonspecific phenotype of Noonan syndrome diagnosed by whole exome sequencing.
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
Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.
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Exome