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Scientific Reports|December 8, 2016
Development of novel noninvasive prenatal testing protocol for whole autosomal recessive disease using picodroplet digital PCRMun Young Chang, Ah Reum Kim, Min Young Kim, et al.
Scientific Reports|December 1, 2021
Biallelic inheritance in a single Pakistani family with intellectual disability implicates new candidate gene RDH14Stephen F Pastore, Tahir Muhammad, Ricardo Harripaul, et al.
Scientific Reports|February 15, 2018
One-step noninvasive prenatal testing (NIPT) for autosomal recessive homozygous point mutations using digital PCRMun Young Chang, Soyeon Ahn, Min Young Kim, et al.
Brain : a Journal of Neurology|April 11, 2019
A mutation in the major autophagy gene, WIPI2, associated with global developmental abnormalitiesMusharraf Jelani, Hannah C Dooley, Andrea Gubas, et al.
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