Kabuki syndrome: a Chinese case series and systematic review of the spectrum of mutations.
about
Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairmentCarotid artery occlusion in Kabuki syndrome: Case report and literature review.A novel KMT2D mutation resulting in Kabuki syndrome: A case report.Robust identification of mosaic variants in congenital heart disease.Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.De novo exonic deletion of KDM6A in a Chinese girl with Kabuki syndrome: A case report and brief literature review.
P2860
Kabuki syndrome: a Chinese case series and systematic review of the spectrum of mutations.
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
Kabuki syndrome: a Chinese cas ...... of the spectrum of mutations.
@ast
Kabuki syndrome: a Chinese cas ...... of the spectrum of mutations.
@en
type
label
Kabuki syndrome: a Chinese cas ...... of the spectrum of mutations.
@ast
Kabuki syndrome: a Chinese cas ...... of the spectrum of mutations.
@en
prefLabel
Kabuki syndrome: a Chinese cas ...... of the spectrum of mutations.
@ast
Kabuki syndrome: a Chinese cas ...... of the spectrum of mutations.
@en
P2093
P2860
P921
P1433
P1476
Kabuki syndrome: a Chinese cas ...... of the spectrum of mutations.
@en
P2093
Cheng Shen
Feng Xiong
Shuang Liu
Xiafei Hong
Zhengqing Qiu
P2860
P2888
P356
10.1186/S12881-015-0171-4
P5008
P577
2015-04-21T00:00:00Z
P5875
P6179
1002147260