FOXG1-Related Disorders: From Clinical Description to Molecular Genetics.
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Delineation of the movement disorders associated withFOXG1mutations: Table 1Striatal neurodevelopment is dysregulated in purine metabolism deficiency and impacts DARPP-32, BDNF/TrkB expression and signaling: new insights on the molecular and cellular basis of Lesch-Nyhan Syndrome.Dissecting DNA repair in adult high grade gliomas for patient stratification in the post-genomic era.Genetic forms of epilepsies and other paroxysmal disordersPartial monosomy14q involving FOXG1 and NOVA1 in an infant with microcephaly, seizures and severe developmental delay.Novel FOXG1 mutations in Chinese patients with Rett syndrome or Rett-like mental retardation.Monogenic disorders that mimic the phenotype of Rett syndrome.Familial recurrences of FOXG1-related disorder: Evidence for mosaicism.Further Clinical Delineation of the MEF2C Haploinsufficiency Syndrome: Report on New Cases and Literature Review of Severe Neurodevelopmental Disorders Presenting with Seizures, Absent Speech, and Involuntary Movements.FOXG1 Mutation is a Low-Incidence Genetic Cause in Atypical Rett Syndrome.Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome.
P2860
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P2860
FOXG1-Related Disorders: From Clinical Description to Molecular Genetics.
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
2011年论文
@zh
2011年论文
@zh-cn
name
FOXG1-Related Disorders: From Clinical Description to Molecular Genetics.
@ast
FOXG1-Related Disorders: From Clinical Description to Molecular Genetics.
@en
type
label
FOXG1-Related Disorders: From Clinical Description to Molecular Genetics.
@ast
FOXG1-Related Disorders: From Clinical Description to Molecular Genetics.
@en
prefLabel
FOXG1-Related Disorders: From Clinical Description to Molecular Genetics.
@ast
FOXG1-Related Disorders: From Clinical Description to Molecular Genetics.
@en
P2860
P356
P1476
FOXG1-Related Disorders: From Clinical Description to Molecular Genetics
@en
P2093
P2860
P304
P356
10.1159/000327329
P577
2011-04-29T00:00:00Z