Clinical Service Delivery of Noninvasive Prenatal Diagnosis by Relative Haplotype Dosage for Single-Gene Disorders
Elizabeth Young, Benjamin Bowns, Amy Gerrish, Michael Parks, Samantha Court, Samuel Clokie, Chipo Mashayamombe-Wolfgarten, Julie Hewitt, Denise Williams, Trevor Cole, Stephanie Allen
Topics & Concepts
ConcordanceMedicineSpinal muscular atrophyHaplotypePrenatal diagnosisSMN1Cystic fibrosisPediatricsPathologyInternal medicineDiseasePregnancyBiologyAlleleGeneGeneticsFetusPrenatal Screening and DiagnosticsGenomic variations and chromosomal abnormalitiesNeurogenetic and Muscular Disorders Research