Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis.

about

De novo variants in GREB1L are associated with non-syndromic inner ear malformations and deafness Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder

P2860

Q57178216-61EDA7CB-F907-4F7D-8952-6907E8C06498 Q57640710-4A5C1ABA-64F5-4D65-8975-A87210993B12

P2860

Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis.

Item

http://www.wikidata.org/entity/Q47904747

description

2017 nî lūn-bûn

@nan

2017年の論文

@ja

2017年学术文章

@wuu

2017年学术文章

@zh

2017年学术文章

@zh-cn

2017年学术文章

@zh-hans

2017年学术文章

@zh-my

2017年学术文章

@zh-sg

2017年學術文章

@yue

2017年學術文章

@zh-hant

name

Genomic study of severe fetal ...... L mutations in renal agenesis.

@en

Genomic study of severe fetal ...... L mutations in renal agenesis.

@nl

type

Item

label

Genomic study of severe fetal ...... L mutations in renal agenesis.

@en

Genomic study of severe fetal ...... L mutations in renal agenesis.

@nl

prefLabel

Genomic study of severe fetal ...... L mutations in renal agenesis.

@en

Genomic study of severe fetal ...... L mutations in renal agenesis.

@nl

P1476

Genomic study of severe fetal ...... L mutations in renal agenesis.

@en

P2093

Aspasia Karalis

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

Catherine Fallet-Bianco

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

Christina Nassif

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

David Chitayat

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

David Dyment

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

Dorothée Dal Soglio

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

Elisabeth Flori

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

Emmanuelle Lemyre

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

Fadi F Hamdan

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

François Audibert

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

P2860

Identification of dynein heavy chain 7 as an inner arm component of human cilia that is synthesized but not assembled in a case of primary ciliary dyskinesia

Mutations in DSTYK and dominant urinary tract malformations

Regulation of apoptosis and neurite extension by FKBP38 is required for neural tube formation in the mouse

Thalidomide-induced teratogenesis: history and mechanisms

The contribution of de novo coding mutations to autism spectrum disorder

Gene dosage-dependent embryonic development and proliferation defects in mice lacking the transcriptional integrator p300

Mouse Fkbp8 activity is required to inhibit cell death and establish dorso-ventral patterning in the posterior neural tube

A framework for the interpretation of de novo mutation in human disease

Heterozygous embryonic lethality induced by targeted inactivation of the VEGF gene

Abnormal blood vessel development and lethality in embryos lacking a single VEGF allele

P2888

gim.2017.173

P31

scholarly article

P356

10.1038/GIM.2017.173

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

P407

English

P50

Guy A. Rouleau

Philippe M. Campeau

P577

2017-10-26T00:00:00Z

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

P698

29261186

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

Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis.

about

P2860

P2860

Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P2888

P31

P356

P407

P50

P577

P698

P356

P1433

P1476

P2093

P2860

P2888

P31

P356

P407

P50

P577

P698