22q11.2 microduplication syndrome with associated esophageal atresia/tracheo-esophageal fistula and vascular ring

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22q11.2 microduplication syndrome with associated esophageal atresia/tracheo-esophageal fistula and vascular ring

Item

http://www.wikidata.org/entity/Q41785812

description

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

22q11.2 microduplication syndr ...... geal fistula and vascular ring

@en

type

Item

label

22q11.2 microduplication syndr ...... geal fistula and vascular ring

@en

prefLabel

22q11.2 microduplication syndr ...... geal fistula and vascular ring

@en

P1476

22q11.2 microduplication syndr ...... geal fistula and vascular ring

@en

P2093

Achintya Moulick

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Cesar Igor Mesia

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Emilee Flynn

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Linda T Nguyen

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Rajeev Prasad

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Reena Jethva

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Sue Moyer

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P2860

Microduplication and triplication of 22q11.2: a highly variable syndrome.

Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients

Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiology

A common molecular basis for rearrangement disorders on chromosome 22q11

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

Clinical variability of the 22q11.2 duplication syndrome.

A unique phenotype in a patient with a rare triplication of the 22q11.2 region and new clinical insights of the 22q11.2 microduplication syndrome: a report of two cases.

Familial 22q11.2 duplication: a three-generation family with a 3-Mb duplication and a familial 1.5-Mb duplication.

Clinical and etiological heterogeneity in patients with tracheo-esophageal malformations and associated anomalies.

A 1.37-Mb 12p11.22-p11.21 deletion coincident with a 367-kb 22q11.2 duplication detected by array comparative genomic hybridization in an adolescent girl with autism and difficulty in self-care of menstruation.

P304

351-356

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P31

scholarly article

case report

P356

10.1002/CCR3.815

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P433

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P478

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P50

Rachel Fleishman

P577

2017-02-11T00:00:00Z

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P698

28265405

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P932

5331229

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