Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1.
about
Isolated Sagittal Synostosis in a Boy with Craniofrontonasal Dysplasia and a Novel EFNB1 MutationA Family with Craniofrontonasal Syndrome and a Mutation (p.G151S) in the EFNB1 Gene: Expanding the PhenotypeFrontonasal Dysplasia: Towards an Understanding of Molecular and Developmental Aetiology.Mllt10 knockout mouse model reveals critical role of Af10-dependent H3K79 methylation in midfacial developmentSurgical approach of hypertelorbitism in craniofrontonasal dysplasia.Use of targeted next-generation sequencing for molecular diagnosis of craniosynostosis: Identification of a novel de novo mutation of EFNB1.Craniofrontonasal Syndrome: Atrial Septal Defect With a Novel EFNB1 Gene MutationThe osteoprogenitor-specific loss of ephrinB1 results in an osteoporotic phenotype affecting the balance between bone formation and resorption
P2860
Q35827380-57387DAB-B7C2-46CC-88B1-A59F9D371382Q36887572-25CC0D50-A946-4F81-B0F7-8BE24113DE49Q37460161-E3A647DE-E88F-4B95-B03D-9041D2F71499Q41696586-CA989B3B-9586-4093-93EA-6053BD685441Q47613889-230C234C-44CA-4F56-843F-2709F83F7379Q51001938-5527BD61-FC8B-4405-9584-4E4771C6B095Q56266813-791DF0B2-3C54-42A6-BB7C-DBCD25CB4ED8Q58708207-0AF2A6B7-2C25-4B99-A157-0EB6818239F8
P2860
Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1.
description
2013 nî lūn-bûn
@nan
2013 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1.
@ast
Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1.
@en
type
label
Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1.
@ast
Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1.
@en
prefLabel
Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1.
@ast
Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1.
@en
P2093
P2860
P356
P1476
Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1
@en
P2093
A J M Hoogeboom
A M W van den Ouweland
I M J Mathijssen
J A C Goos
M E P van den Elzen
P2860
P2888
P304
P356
10.1038/EJHG.2013.273
P577
2013-11-27T00:00:00Z