Isolated chromosome 8p23.2‑pter deletion: Novel evidence for developmental delay, intellectual disability, microcephaly and neurobehavioral disorders.

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Isolated chromosome 8p23.2‑pter deletion: Novel evidence for developmental delay, intellectual disability, microcephaly and neurobehavioral disorders.

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http://www.wikidata.org/entity/Q41918413

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2017 nî lūn-bûn

@nan

2017年の論文

@ja

2017年論文

@yue

2017年論文

@zh-hant

2017年論文

@zh-hk

2017年論文

@zh-mo

2017年論文

@zh-tw

2017年论文

@wuu

2017年论文

@zh

2017年论文

@zh-cn

name

Isolated chromosome 8p23.2‑pte ...... and neurobehavioral disorders.

@en

type

Item

label

Isolated chromosome 8p23.2‑pte ...... and neurobehavioral disorders.

@en

prefLabel

Isolated chromosome 8p23.2‑pte ...... and neurobehavioral disorders.

@en

P1476

Isolated chromosome 8p23.2‑pte ...... and neurobehavioral disorders.

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P2093

Baojiang Chen

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Shanshan Shi

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Shaobin Lin

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Yi Zhou

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P2860

Identification of microcephalin, a protein implicated in determining the size of the human brain

Slowed conduction and thin myelination of peripheral nerves associated with mutant rho Guanine-nucleotide exchange factor 10

Functional impact of global rare copy number variation in autism spectrum disorders

Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia

An association screen of myelin-related genes implicates the chromosome 22q11 PIK4CA gene in schizophrenia

Submicroscopic subtelomeric aberrations in Chinese patients with unexplained developmental delay/mental retardation.

A paternally inherited terminal deletion, del(8)(p23.1)pat, detected prenatally in an amniotic fluid sample: a review of deletion 8p23.1 cases.

Mutations in microcephalin cause aberrant regulation of chromosome condensation.

Transmitted duplication of 8p23.1-8p23.2 associated with speech delay, autism and learning difficulties

Genomic profile of copy number variants on the short arm of human chromosome 8.

P304

6837-6845

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P31

scholarly article

P356

10.3892/MMR.2017.7438

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P433

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P478

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P577

2017-09-07T00:00:00Z

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P698

28901431

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P921

disability

microcephaly

P932

5865842

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