Phenotype of a Belgian Family With 6p25 Deletion Syndrome.

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Phenotype of a Belgian Family With 6p25 Deletion Syndrome.

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http://www.wikidata.org/entity/Q39723946

description

2016 nî lūn-bûn

@nan

2016年の論文

@ja

2016年論文

@yue

2016年論文

@zh-hant

2016年論文

@zh-hk

2016年論文

@zh-mo

2016年論文

@zh-tw

2016年论文

@wuu

2016年论文

@zh

2016年论文

@zh-cn

name

Phenotype of a Belgian Family With 6p25 Deletion Syndrome.

@en

Phenotype of a Belgian Family With 6p25 Deletion Syndrome.

@nl

type

Item

label

Phenotype of a Belgian Family With 6p25 Deletion Syndrome.

@en

Phenotype of a Belgian Family With 6p25 Deletion Syndrome.

@nl

prefLabel

Phenotype of a Belgian Family With 6p25 Deletion Syndrome.

@en

Phenotype of a Belgian Family With 6p25 Deletion Syndrome.

@nl

P1476

Phenotype of a Belgian Family With 6p25 Deletion Syndrome.

@en

P2093

Freya K R Swinnen

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Ingeborg J M Dhooge

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Jan W Casselman

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

Nicole J D Weegerink

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

Olivier M Vanakker

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P2860

Novel COL4A1 mutations cause cerebral small vessel disease by haploinsufficiency

Phenotypic and molecular assessment of seven patients with 6p25 deletion syndrome: relevance to ocular dysgenesis and hearing impairment

arrayCGHbase: an analysis platform for comparative genomic hybridization microarrays.

The forkhead/winged helix gene Mf1 is disrupted in the pleiotropic mouse mutation congenital hydrocephalus

FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation

Distal 6p deletion syndrome: a report of a case with anterior chamber eye anomaly and review of published reports.

A novel mutation identified in the DFNA5 gene in a Dutch family: a clinical and genetic evaluation.

SHIELD: an integrative gene expression database for inner ear research.

PITX2 and FOXC1 spectrum of mutations in ocular syndromes

The 6p subtelomere deletion syndrome.

P304

734-745

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P31

scholarly article

P356

10.1177/0003489416650687

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P433

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

P478

125

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P577

2016-05-30T00:00:00Z

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P698

27242366

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