about
Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variabilityMolecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletionsMutation update on the CHD7 gene involved in CHARGE syndromeNew recognized ophthalmic morphologic anomalies in CHARGE syndrome caused by the R2319C mutation in the CHD7 geneCleft lip and palate genetics and application in early embryological development.CHD7 mutations and CHARGE syndrome in semicircular canal dysplasia.Mutations in the CHD7 gene: the experience of a commercial laboratoryEpigenetic Developmental Disorders: CHARGE syndrome, a case studyChromodomain proteins in development: lessons from CHARGE syndrome.CHD proteins: a diverse family with strong ties.A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome.Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria.Cranial neural crest cells on the move: their roles in craniofacial development.
P2860
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P2860
description
2006 nî lūn-bûn
@nan
2006年の論文
@ja
2006年学术文章
@wuu
2006年学术文章
@zh-cn
2006年学术文章
@zh-hans
2006年学术文章
@zh-my
2006年学术文章
@zh-sg
2006年學術文章
@yue
2006年學術文章
@zh
2006年學術文章
@zh-hant
name
CHD7 gene and non-syndromic cleft lip and palate.
@en
CHD7 gene and non-syndromic cleft lip and palate.
@nl
type
label
CHD7 gene and non-syndromic cleft lip and palate.
@en
CHD7 gene and non-syndromic cleft lip and palate.
@nl
prefLabel
CHD7 gene and non-syndromic cleft lip and palate.
@en
CHD7 gene and non-syndromic cleft lip and palate.
@nl
P2093
P356
P1476
CHD7 gene and non-syndromic cleft lip and palate.
@en
P2093
Benjamin C Hanshaw
Jeffrey C Murray
Robert Mueller
Têmis M Félix
P304
P356
10.1002/AJMG.A.31308
P407
P50
P577
2006-10-01T00:00:00Z