Identification of novel candidate gene loci and increased sex chromosome aneuploidy among infants with conotruncal heart defects.

Identification of novel candidate gene loci and increased sex chromosome aneuploidy among infants with conotruncal heart defects.

Item
http://www.wikidata.org/entity/Q55166864
The importance of copy number variation in congenital heart diseaseNovel TBX1 loss-of-function mutation causes isolated conotruncal heart defects in Chinese patients without 22q11.2 deletion.Haploinsufficiency of insulin gene enhancer protein 1 (ISL1) is associated with d-transposition of the great arteries.De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects.Cytogenomic Evaluation of Subjects with Syndromic and Nonsyndromic Conotruncal Heart Defects.Genetic variants at 10p11 confer risk of Tetralogy of Fallot in Chinese of Nanjing.Whole-exome sequencing to identify novel mutations of nevoid basal cell carcinoma syndrome in a Chinese population.Transposition of the great arteries - a phenotype associated with 16p11.2 duplications?Major Contribution of Genomic Copy Number Variation in Syndromic Congenital Heart Disease: The Use of MLPA as the First Genetic Test.Mutation Screening of Gata4 Gene in CTD Patients Within Chinese Han Population.Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significance.Duplication of 10q22.3-q23.3 encompassing BMPR1A and NGR3 associated with congenital heart disease, microcephaly, and mild intellectual disability.
P2860

Identification of novel candidate gene loci and increased sex chromosome aneuploidy among infants with conotruncal heart defects.

Item
http://www.wikidata.org/entity/Q55166864
description
2013 nî lūn-bûn
@nan
2013年の論文
@ja
2013年学术文章
@wuu
2013年学术文章
@zh-cn
2013年学术文章
@zh-hans
2013年学术文章
@zh-my
2013年学术文章
@zh-sg
2013年學術文章
@yue
2013年學術文章
@zh
2013年學術文章
@zh-hant
name
Identification of novel candid ...... ith conotruncal heart defects.
@en
Identification of novel candid ...... ith conotruncal heart defects.
@nl
type
label
Identification of novel candid ...... ith conotruncal heart defects.
@en
Identification of novel candid ...... ith conotruncal heart defects.
@nl
prefLabel
Identification of novel candid ...... ith conotruncal heart defects.
@en
Identification of novel candid ...... ith conotruncal heart defects.
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P932
P356
P1433
P1476
Identification of novel candid ...... ith conotruncal heart defects.
@en
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P932