Impact of genetics on the diagnosis and clinical management of syndromic craniosynostoses.
about
Apparently synonymous substitutions in FGFR2 affect splicing and result in mild Crouzon syndrome.Novel molecular pathways elicited by mutant FGFR2 may account for brain abnormalities in Apert syndrome.Distinct sets of FGF receptors sculpt excitatory and inhibitory synaptogenesis.A Qualitative Study to Explore the Views and Attitudes towards Prenatal Testing in Adults Who Have Muenke Syndrome and their Partners.[Uncommon acne-associated syndromes and their significance in understanding the pathogenesis of acne].A novel multidisciplinary approach toward a better understanding of cranial suture closure: the first evidence of genetic effects in adulthood.Syndromic craniosynostosis: neuropsycholinguistic abilities and imaging analysis of the central nervous system.Synostotic anterior plagiocephaly: a cause of familial congenital superior oblique muscle palsy.Morphology of the foramen magnum in syndromic and non-syndromic brachycephalySevere craniosynostosis with Noonan syndrome phenotype associated with SHOC2 mutation: clinical evidence of crosslink between FGFR and RAS signaling pathwaysCrouzon syndrome: Genetic and intervention review
P2860
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P2860
Impact of genetics on the diagnosis and clinical management of syndromic craniosynostoses.
description
2012 nî lūn-bûn
@nan
2012 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
Impact of genetics on the diag ...... of syndromic craniosynostoses.
@ast
Impact of genetics on the diag ...... of syndromic craniosynostoses.
@en
type
label
Impact of genetics on the diag ...... of syndromic craniosynostoses.
@ast
Impact of genetics on the diag ...... of syndromic craniosynostoses.
@en
prefLabel
Impact of genetics on the diag ...... of syndromic craniosynostoses.
@ast
Impact of genetics on the diag ...... of syndromic craniosynostoses.
@en
P2860
P1476
Impact of genetics on the diag ...... of syndromic craniosynostoses.
@en
P2093
Benjamin D Solomon
Nneamaka B Agochukwu
P2860
P2888
P304
P356
10.1007/S00381-012-1756-2
P577
2012-08-08T00:00:00Z
P6179
1026218765