A novel MED12 mutation associated with non-specific X-linked intellectual disability.
about
Challenges in detecting genomic copy number aberrations using next-generation sequencing data and the eXome Hidden Markov Model: a clinical exome-first diagnostic approach.A novel COL1A1 mutation in a family with osteogenesis imperfecta associated with phenotypic variabilities.MED12-related XLID disorders are dose-dependent of immediate early genes (IEGs) expression.Use of targeted next-generation sequencing for molecular diagnosis of craniosynostosis: Identification of a novel de novo mutation of EFNB1.De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy?A novel TUBB3 mutation in a sporadic patient with asymmetric cortical dysplasia.
P2860
A novel MED12 mutation associated with non-specific X-linked intellectual disability.
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
A novel MED12 mutation associated with non-specific X-linked intellectual disability.
@ast
A novel MED12 mutation associated with non-specific X-linked intellectual disability.
@en
type
label
A novel MED12 mutation associated with non-specific X-linked intellectual disability.
@ast
A novel MED12 mutation associated with non-specific X-linked intellectual disability.
@en
prefLabel
A novel MED12 mutation associated with non-specific X-linked intellectual disability.
@ast
A novel MED12 mutation associated with non-specific X-linked intellectual disability.
@en
P2860
P356
P1476
A novel MED12 mutation associated with non-specific X-linked intellectual disability
@en
P2093
Keiko Shimojima
P2860
P2888
P356
10.1038/HGV.2015.18
P577
2015-06-18T00:00:00Z