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- Sherman, Stephanie L., et al. Show all 5 Authors
- Nucleic acids research 2008 v.36 no.22 pp. e145
- DNA; Down syndrome; algorithms; cost effectiveness; equipment; fluorescence; genotype; genotyping; patients; phenotype; phenotypic variation; sequence analysis; single nucleotide polymorphism; trisomics
- ... Individuals with trisomy 21 display complex phenotypes with differing degrees of severity. Numerous reliable methods have been established to diagnose the initial trisomy in these patients, but the identification and characterization of the genetic basis of the phenotypic variation in individuals with trisomy remains challenging. To date, methods that can accurately determine genotypes in trisomic ...
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