Analysis of mutations in 7 genes associated with neuronal excitability and synaptic transmission in a cohort of children with non-syndromic infantile epileptic encephalopathy.
about
Mutation screening of SCN2A in schizophrenia and identification of a novel loss-of-function mutation.Male patients affected by mosaic PCDH19 mutations: five new cases.An Emerging Female Phenotype with Loss-of-Function Mutations in the Aristaless-Related Homeodomain Transcription Factor ARX.Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness.Molecular diagnosis of patients with epilepsy and developmental delay using a customized panel of epilepsy genes.Gene panel analysis for nonsyndromic cryptogenic neonatal/infantile epileptic encephalopathy.
P2860
Analysis of mutations in 7 genes associated with neuronal excitability and synaptic transmission in a cohort of children with non-syndromic infantile epileptic encephalopathy.
description
2015 nî lūn-bûn
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2015年の論文
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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
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2015年论文
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2015年论文
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name
Analysis of mutations in 7 gen ...... tile epileptic encephalopathy.
@ast
Analysis of mutations in 7 gen ...... tile epileptic encephalopathy.
@en
type
label
Analysis of mutations in 7 gen ...... tile epileptic encephalopathy.
@ast
Analysis of mutations in 7 gen ...... tile epileptic encephalopathy.
@en
prefLabel
Analysis of mutations in 7 gen ...... tile epileptic encephalopathy.
@ast
Analysis of mutations in 7 gen ...... tile epileptic encephalopathy.
@en
P2093
P2860
P1433
P1476
Analysis of mutations in 7 gen ...... tile epileptic encephalopathy.
@en
P2093
Alvin Chi-Chung Ho
Anna Ka-Yee Kwong
Cheuk-Wing Fung
Virginia Chun-Nei Wong
P2860
P304
P356
10.1371/JOURNAL.PONE.0126446
P407
P577
2015-05-07T00:00:00Z