Atypical microdeletion in 22q11 deletion syndrome reveals new candidate causative genes: A case report and literature review.

about

Atypical microdeletion in 22q11 deletion syndrome reveals new candidate causative genes: A case report and literature review.

Item

http://www.wikidata.org/entity/Q49712030

description

2018 nî lūn-bûn

@nan

2018年の論文

@ja

2018年学术文章

@wuu

2018年学术文章

@zh

2018年学术文章

@zh-cn

2018年学术文章

@zh-hans

2018年学术文章

@zh-my

2018年学术文章

@zh-sg

2018年學術文章

@yue

2018年學術文章

@zh-hant

name

Atypical microdeletion in 22q1 ...... report and literature review.

@en

Atypical microdeletion in 22q1 ...... report and literature review.

@nl

type

Item

label

Atypical microdeletion in 22q1 ...... report and literature review.

@en

Atypical microdeletion in 22q1 ...... report and literature review.

@nl

prefLabel

Atypical microdeletion in 22q1 ...... report and literature review.

@en

Atypical microdeletion in 22q1 ...... report and literature review.

@nl

P1476

Atypical microdeletion in 22q1 ...... report and literature review.

@en

P2093

Huiping Shi

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

Zhaoyue Wang

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

P275

Creative Commons Attribution-NoDerivs 4.0 International

P2860

Role of TBX1 in human del22q11.2 syndrome

Mammalian TBX1 preferentially binds and regulates downstream targets via a tandem T-site repeat

Loss of Goosecoid-like and DiGeorge syndrome critical region 14 in interpeduncular nucleus results in altered regulation of rapid eye movement sleep

Thrombocytopenia in patients with 22q11.2 deletion syndrome and its association with glycoprotein Ib-beta.

Frequency of thrombocytopenia and large platelets correlates neither with conotruncal cardiac anomalies nor immunological features in the chromosome 22q11.2 deletion syndrome.

Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements

Phenotype of adults with the 22q11 deletion syndrome: A review

Association of a deletion of GSTT2B with an altered risk of oesophageal squamous cell carcinoma in a South African population: a case-control study.

Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.

Association between autism spectrum disorder in individuals with velocardiofacial (22q11.2 deletion) syndrome and PRODH and COMT genotypes

P304

e9936

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

P31

scholarly article

case report

review article

P356

10.1097/MD.0000000000009936

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

P407

English

P433

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

P478

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

P5008

ScienceSource

P577

2018-02-01T00:00:00Z

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

P698

29465581

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

P921

velocardiofacial syndrome

DiGeorge syndrome

P932

5841983

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