One-step noninvasive prenatal testing (NIPT) for autosomal recessive homozygous point mutations using digital PCR.

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One-step noninvasive prenatal testing (NIPT) for autosomal recessive homozygous point mutations using digital PCR.

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2018 nî lūn-bûn

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2018年の論文

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年學術文章

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2018年學術文章

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One-step noninvasive prenatal ...... t mutations using digital PCR.

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One-step noninvasive prenatal testing

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One-step noninvasive prenatal ...... t mutations using digital PCR.

@en

One-step noninvasive prenatal testing

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One-step noninvasive prenatal ...... t mutations using digital PCR.

@en

One-step noninvasive prenatal testing

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P1476

One-step noninvasive prenatal ...... nt mutations using digital PCR

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P2093

Byung Yoon Choi

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Changsoo Kang

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Doo-Yi Oh

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Hye-Rim Park

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Jin Hee Han

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Jinsun Yoon

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Min Young Kim

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Seungmin Lee

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Soyeon Ahn

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P2860

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

Establishment of a Flexible Real-Time Polymerase Chain Reaction-Based Platform for Detecting Prevalent Deafness Mutations Associated with Variable Degree of Sensorineural Hearing Loss in Koreans.

Construction of a multiplex allele-specific PCR-based universal array (ASPUA) and its application to hearing loss screening.

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.

Randomised controlled trial of genetic amniocentesis in 4606 low-risk women.

Noninvasive prenatal testing for autosomal recessive conditions by maternal plasma sequencing in a case of congenital deafness.

[Outcome of 1,355 consecutive transabdominal chorionic villus samplings in 1,351 patients].

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2877

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scholarly article

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10.1038/S41598-018-21236-W

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English

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P478

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Mun Young Chang

Han Kyu Seo

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2018-02-13T00:00:00Z

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29440752

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5811538

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