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One or more keywords matched the following items that are connected to Haverfield, Eden
Item TypeName
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.
Search Criteria
  • Exome
  • sequencing