Development of novel noninvasive prenatal testing protocol for whole autosomal recessive disease using picodroplet digital PCR

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One-step noninvasive prenatal testing (NIPT) for autosomal recessive homozygous point mutations using digital PCR.Using massively parallel shotgun sequencing of maternal plasmatic cell-free DNA for cytomegalovirus DNA detection during pregnancy: a proof of concept study.

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Development of novel noninvasive prenatal testing protocol for whole autosomal recessive disease using picodroplet digital PCR

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article científic

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bilimsel makale

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scientific article published on 07 December 2016

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Development of novel noninvasi ...... using picodroplet digital PCR

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Development of novel noninvasi ...... using picodroplet digital PCR.

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Development of novel noninvasi ...... using picodroplet digital PCR

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Development of novel noninvasi ...... using picodroplet digital PCR.

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Development of novel noninvasi ...... using picodroplet digital PCR

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Development of novel noninvasi ...... using picodroplet digital PCR.

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Development of novel noninvasi ...... using picodroplet digital PCR

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Ah Reum Kim

http://www.w3.org/2001/XMLSchema#string

Byung Yoon Choi

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Changsoo Kang

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Jae Joon Han

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Jinsun Yoon

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Min Young Kim

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Mun Young Chang

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Soyeon Ahn

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Soyoung Kim

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DNA Sequencing versus Standard Prenatal Aneuploidy Screening

Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood

Quantitative and sensitive detection of rare mutations using droplet-based microfluidics

Prenatal Diagnosis of Fetal RhD Status by Molecular Analysis of Maternal Plasma

A Non-Invasive Droplet Digital PCR (ddPCR) Assay to Detect Paternal CFTR Mutations in the Cell-Free Fetal DNA (cffDNA) of Three Pregnancies at Risk of Cystic Fibrosis via Compound Heterozygosity

Noninvasive prenatal diagnosis of congenital adrenal hyperplasia using cell-free fetal DNA in maternal plasma.

Targeted massively parallel sequencing of maternal plasma DNA permits efficient and unbiased detection of fetal alleles.

New aids for the non-invasive prenatal diagnosis of achondroplasia: dysmorphic features, charts of fetal size and molecular confirmation using cell-free fetal DNA in maternal plasma.

Absolute quantification by droplet digital PCR versus analog real-time PCR.

DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study.

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srep37153

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scholarly article

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10.1038/SREP37153

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English

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2016-12-07T00:00:00Z

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Development of novel noninvasive prenatal testing protocol for whole autosomal recessive disease using picodroplet digital PCR

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P2860

Development of novel noninvasive prenatal testing protocol for whole autosomal recessive disease using picodroplet digital PCR

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P1476

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