Truncation of NHEJ1 in a patient with polymicrogyria.

Truncation of NHEJ1 in a patient with polymicrogyria.

Item
http://www.wikidata.org/entity/Q34595138
Cerebral cortex expansion and folding: what have we learned?Polymicrogyria: a common and heterogeneous malformation of cortical development.Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis.Interplay between Cernunnos-XLF and nonhomologous end-joining proteins at DNA ends in the cell.Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposisDefective DNA repair and increased genomic instability in Cernunnos-XLF-deficient murine ES cells.A large duplication involving the IHH locus mimics acrocallosal syndrome.Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria.Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria.Loss of NHEJ1 Protein Due to a Novel Splice Site Mutation in a Family Presenting with Combined Immunodeficiency, Microcephaly, and Growth Retardation and Literature Review.PRKDC mutations in a SCID patient with profound neurological abnormalities.Polydactyly in the mouse mutant Doublefoot involves altered Gli3 processing and is caused by a large deletion in cis to Indian hedgehog.Nhej1 Deficiency Causes Abnormal Development of the Cerebral Cortex.Homozygous truncating mutation of the KBP gene, encoding a KIF1B-binding protein, in a familial case of fetal polymicrogyria.Postsynaptic currents prior to onset of epileptiform activity in rat microgyria.
P2860

Truncation of NHEJ1 in a patient with polymicrogyria.

Item
http://www.wikidata.org/entity/Q34595138
description
2007 nî lūn-bûn
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2007 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
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2007年论文
@wuu
name
Truncation of NHEJ1 in a patient with polymicrogyria.
@ast
Truncation of NHEJ1 in a patient with polymicrogyria.
@en
Truncation of NHEJ1 in a patient with polymicrogyria.
@nl
type
label
Truncation of NHEJ1 in a patient with polymicrogyria.
@ast
Truncation of NHEJ1 in a patient with polymicrogyria.
@en
Truncation of NHEJ1 in a patient with polymicrogyria.
@nl
prefLabel
Truncation of NHEJ1 in a patient with polymicrogyria.
@ast
Truncation of NHEJ1 in a patient with polymicrogyria.
@en
Truncation of NHEJ1 in a patient with polymicrogyria.
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P921
P356
P1433
P1476
Truncation of NHEJ1 in a patient with polymicrogyria.
@en
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P921