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ENG, CHRISTINE
One or more keywords matched the following items that are connected to ENG, CHRISTINE
Item TypeName
Academic Article Chromosomal microarray versus karyotyping for prenatal diagnosis.
Concept Genetic Diseases, Inborn
Academic Article Clinical whole-exome sequencing for the diagnosis of mendelian disorders.
Academic Article Genetic diagnosis through whole-exome sequencing.
Academic Article Molecular findings among patients referred for clinical whole-exome sequencing.
Academic Article Genome-Wide Sequencing for Prenatal Detection of Fetal Single-Gene Disorders.
Academic Article Molecular diagnostic experience of whole-exome sequencing in adult patients.
Academic Article Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation.
Academic Article Lessons learned from additional research analyses of unsolved clinical exome cases.
Academic Article Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.
Academic Article Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder.
Academic Article Next-Generation Sequencing to Diagnose Suspected Genetic Disorders.
Academic Article Next-Generation Sequencing to Diagnose Suspected Genetic Disorders.
Academic Article Reanalysis of Clinical Exome Sequencing Data.
Academic Article DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract.
Academic Article A Genocentric Approach to Discovery of Mendelian Disorders.
Academic Article CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels.
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  • Genetic Diseases Inborn