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

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Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 2045-2322

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: One-step noninvasive prenatal testing (NIPT) for autosomal recessive homozygous point mutations using digital PCR ; volume:8 ; number:1 ; day:13 ; month:2 ; year:2018 ; pages:1-8 ; date:12.2018
Scientific reports ; 8, Heft 1 (13.2.2018), 1-8, 12.2018

Creator: Chang, Mun Young

Contributor: Ahn, Soyeon
Kim, Min Young
Han, Jin Hee
Park, Hye-Rim
Seo, Han Kyu
Yoon, Jinsun
Lee, Seungmin
Oh, Doo-Yi
Kang, Changsoo
Choi, Byung Yoon
SpringerLink (Online service)

DOI: 10.1038/s41598-018-21236-w

URN: urn:nbn:de:101:1-2018090420375351889976

Rights: Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 15.08.2025, 7:38 AM CEST

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Chang, Mun Young
Ahn, Soyeon
Kim, Min Young
Han, Jin Hee
Park, Hye-Rim
Seo, Han Kyu
Yoon, Jinsun
Lee, Seungmin
Oh, Doo-Yi
Kang, Changsoo
Choi, Byung Yoon
SpringerLink (Online service)

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

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Other Objects (12)

Prenatal diagnosis of autosomal recessive osteopetrosis: a case report

Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome

Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome

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A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability

Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly

Homozygous Missense Mutation on Exon 22 of PKHD1 Gene Causing Fatal Autosomal Recessive Polycystic Kidney Disease

A novel homozygous TUB mutation associated with autosomal recessive retinitis pigmentosa in a consanguineous Chinese family

Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10

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Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome

Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome

Autosomal recessive cerebellar ataxias

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Homozygous Missense Mutation on Exon 22 of PKHD1 Gene Causing Fatal Autosomal Recessive Polycystic Kidney Disease

A novel homozygous TUB mutation associated with autosomal recessive retinitis pigmentosa in a consanguineous Chinese family

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Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome

Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome

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Correction to: Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10

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