Clinical Genetic Testing in Epilepsy.

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Molecular Genetics of Epilepsy: A Clinician's Perspective.Attitudes Toward Epilepsy Genetics Testing Among Adult and Pediatric Epileptologists-Results of a Q-PULSE Survey.Alphabet Soup: Recurrent De Novo Mutations in Novel Genes Causing Developmental and Epileptic Encephalopathies.

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P2860

Clinical Genetic Testing in Epilepsy.

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http://www.wikidata.org/entity/Q42432437

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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

Clinical Genetic Testing in Epilepsy.

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Clinical Genetic Testing in Epilepsy.

@nl

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Item

label

Clinical Genetic Testing in Epilepsy.

@en

Clinical Genetic Testing in Epilepsy.

@nl

prefLabel

Clinical Genetic Testing in Epilepsy.

@en

Clinical Genetic Testing in Epilepsy.

@nl

P1476

Clinical Genetic Testing in Epilepsy.

@en

P2093

Heather C Mefford

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TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

De novo mutations in epileptic encephalopathies

De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP

De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy.

Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies

Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes.

A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24.

A 15q13.3 microdeletion segregating with autism.

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197-201

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scholarly article

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10.5698/1535-7511-15.4.197

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English

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P478

http://www.w3.org/2001/XMLSchema#string

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2015-07-01T00:00:00Z

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26316867

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P932

4532232

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Clinical Genetic Testing in Epilepsy.

about

P2860

P2860

Clinical Genetic Testing in Epilepsy.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P577

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P577

P698

P932