A human laterality disorder associated with a homozygous WDR16 deletion.

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Genetics and Genomics of Congenital Heart Disease.Cytokine secretion and NK cell activity in human ADAM17 deficiency.Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility

P2860

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P2860

A human laterality disorder associated with a homozygous WDR16 deletion.

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http://www.wikidata.org/entity/Q35959700

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2014 nî lūn-bûn

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2014年の論文

@ja

2014年論文

@yue

2014年論文

@zh-hant

2014年論文

@zh-hk

2014年論文

@zh-mo

2014年論文

@zh-tw

2014年论文

@wuu

2014年论文

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2014年论文

@zh-cn

name

A human laterality disorder associated with a homozygous WDR16 deletion.

@ast

A human laterality disorder associated with a homozygous WDR16 deletion.

@en

type

Item

label

A human laterality disorder associated with a homozygous WDR16 deletion.

@ast

A human laterality disorder associated with a homozygous WDR16 deletion.

@en

prefLabel

A human laterality disorder associated with a homozygous WDR16 deletion.

@ast

A human laterality disorder associated with a homozygous WDR16 deletion.

@en

P1476

A human laterality disorder associated with a homozygous WDR16 deletion.

@en

P2093

Asaf Ta-Shma

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Ayala Frumkin

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

Azaria J J T Rein

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

Barak Yaacov

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

Marion Werner

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

Orly Elpeleg

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

Zeev Perles

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

P2860

Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects

Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia

High prevalence of respiratory ciliary dysfunction in congenital heart disease patients with heterotaxy.

Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects.

When cilia go bad: cilia defects and ciliopathies

MutationTaster evaluates disease-causing potential of sequence alterations

The hydrocephalus inducing gene product, Hydin, positions axonemal central pair microtubules.

A human laterality disorder associated with recessive CCDC11 mutation.

Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry.

Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia

P2888

ejhg.2014.265

P304

1262-1265

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P31

scholarly article

case report

P356

10.1038/EJHG.2014.265

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P433

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

P478

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P577

2014-12-03T00:00:00Z

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P5875

269174310

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P698

25469542

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P932

4538206

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A human laterality disorder associated with a homozygous WDR16 deletion.

about

P2860

P2860

A human laterality disorder associated with a homozygous WDR16 deletion.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P577

P5875

P698

P932

P356

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P577

P5875

P698

P932