A novel approach using long-read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders.

about

Single molecule real-time (SMRT) sequencing comes of age: applications and utilities for medical diagnostics.Rapid and reliable diagnostic method to detect Zika virus by real-time fluorescence reverse transcription loop-mediated isothermal amplification.Long reads: their purpose and place

P2860

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P2860

A novel approach using long-read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders.

Item

http://www.wikidata.org/entity/Q47139897

description

2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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2017年学术文章

@zh-cn

2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年學術文章

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2017年學術文章

@zh-hant

name

A novel approach using long-re ...... with developmental disorders.

@en

A novel approach using long-re ...... with developmental disorders.

@nl

type

Item

label

A novel approach using long-re ...... with developmental disorders.

@en

A novel approach using long-re ...... with developmental disorders.

@nl

prefLabel

A novel approach using long-re ...... with developmental disorders.

@en

A novel approach using long-re ...... with developmental disorders.

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P1476

A novel approach using long-re ...... with developmental disorders.

@en

P2093

Carina Frykholm

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

Eva-Lena Stattin

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

Göran Annerén

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

Helena Malmgren

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

Josefin Johansson

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

Marie-Louise Bondeson

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

P2860

Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome

Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair

De novo mutations in epileptic encephalopathies

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation

A restricted spectrum of NRAS mutations causes Noonan syndrome

The contribution of de novo coding mutations to autism spectrum disorder

High-throughput droplet digital PCR system for absolute quantitation of DNA copy number

Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. The Treacher Collins Syndrome Collaborative Group

P304

1146-1154

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scholarly article

P356

10.1002/PD.5156

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P433

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

P478

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P50

Adam Ameur

Sanna Gudmundsson

Maria Wilbe

P577

2017-09-16T00:00:00Z

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P698

28921562

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P932

5725701

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A novel approach using long-read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders.

about

P2860

P2860

A novel approach using long-read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders.

description

name

type

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P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698

P932