Single gene disorders associated with congenital diaphragmatic hernia.
about
Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic herniaSequence variants in the HLX gene at chromosome 1q41-1q42 in patients with diaphragmatic herniaPerinatal Case of Fatal Simpson-Golabi-Behmel Syndrome with Hyperplasia of Seminiferous Tubules.Genetic aspects of human congenital diaphragmatic hernia.Structure and epitope distribution of heparan sulfate is disrupted in experimental lung hypoplasia: a glycobiological epigenetic cause for malformation?Congenital diaphragmatic hernia and associated cardiovascular malformations: type, frequency, and impact on management.Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndromeIncreased burden of de novo predicted deleterious variants in complex congenital diaphragmatic hernia.Syndromic associations with congenital anomalies of the fetal thorax and abdomen.A review of congenital diaphragmatic hernia.Malformation syndromes associated with disorders of sex development.Hepatic pulmonary fusion: two cases with diaphragmatic hernia and one case with Pentalogy of Cantrell.A maternally inherited chromosome 18q22.1 deletion in a male with late-presenting diaphragmatic hernia and microphthalmia-evaluation of DSEL as a candidate gene for the diaphragmatic defect.HLX is a candidate gene for a pattern of anomalies associated with congenital diaphragmatic hernia, short bowel, and asplenia.Congenital diaphragmatic hernia in 22q11.2 deletion syndrome.SNP microarray abnormalities in a cohort of 28 infants with congenital diaphragmatic hernia.
P2860
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P2860
Single gene disorders associated with congenital diaphragmatic hernia.
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
2007年论文
@zh
2007年论文
@zh-cn
name
Single gene disorders associated with congenital diaphragmatic hernia.
@ast
Single gene disorders associated with congenital diaphragmatic hernia.
@en
type
label
Single gene disorders associated with congenital diaphragmatic hernia.
@ast
Single gene disorders associated with congenital diaphragmatic hernia.
@en
prefLabel
Single gene disorders associated with congenital diaphragmatic hernia.
@ast
Single gene disorders associated with congenital diaphragmatic hernia.
@en
P2860
P356
P1476
Single gene disorders associated with congenital diaphragmatic hernia.
@en
P2093
Anne M Slavotinek
P2860
P304
P356
10.1002/AJMG.C.30125
P577
2007-05-01T00:00:00Z