Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome.
about
Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial featuresPrioritizing the development of mouse models for childhood brain disordersHaploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases.Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome.KBG syndrome involving a single-nucleotide duplication in ANKRD11.ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndromeIntellectual Profiles in KBG-Syndrome: A Wechsler Based Case-Control Study.ANKRD11 associated with intellectual disability and autism regulates dendrite differentiation via the BDNF/TrkB signaling pathway.KBG syndrome: An Australian experience.Clinical and genetic aspects of KBG syndrome.A splice-site variant in ANKRD11 associated with classical KBG syndrome.KBG syndrome.
P2860
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P2860
Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome.
description
2014 nî lūn-bûn
@nan
2014年の論文
@ja
2014年学术文章
@wuu
2014年学术文章
@zh-cn
2014年学术文章
@zh-hans
2014年学术文章
@zh-my
2014年学术文章
@zh-sg
2014年學術文章
@yue
2014年學術文章
@zh
2014年學術文章
@zh-hant
name
Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome.
@en
type
label
Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome.
@en
prefLabel
Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome.
@en
P2093
P2860
P50
P1433
P1476
Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome.
@en
P2093
Adriana Lo Castro
Clemer Abad
Devon Cohen
Francesco Brancati
Joseph Foster
Juan I Young
Kathrine Bjørgo
Korcan Demir
Lily Zhang
P2860
P2888
P304
P356
10.1007/S00439-014-1509-2
P577
2014-11-21T00:00:00Z
P6179
1006736839