Genetically complex epilepsies, copy number variants and syndrome constellations. - Wikidata - awgldk - TriplyDB

Genetically complex epilepsies, copy number variants and syndrome constellations.

Genetically complex epilepsies, copy number variants and syndrome constellations.

http://www.wikidata.org/entity/Q34334100

about

Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies Imaging and genetics of language and cognition in pediatric epilepsy A genomic copy number variant analysis implicates the MBD5 and HNRNPU genes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletion Epilepsy and the new cytogenetics.Genomic architecture of aggression: rare copy number variants in intermittent explosive disorder Epi4K: gene discovery in 4,000 genomes.Copy number variants in the population: unselected does not mean unaffected Genetic variations and associated pathophysiology in the management of epilepsy.Epilepsy and autism: neurodevelopmental perspective.Recurrent copy number variations as risk factors for neurodevelopmental disorders: critical overview and analysis of clinical implications.A subset of genomic alterations detected in rolandic epilepsies contains candidate or known epilepsy genes including GRIN2A and PRRT2.Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy.Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link with autism.CNVs in Epilepsy.Epilepsy with cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGH.16p13.11 microdeletion in a patient with hemiconvulsion-hemiplegia-epilepsy syndrome: a case report.Chromosomal microaberrations in patients with epilepsy, intellectual disability, and congenital anomalies.“Blinders, phenotype, and fashionable genetic analysis”: Setting the record straight for epilepsy!Investigation of the 15q13.3 CNV as a genetic modifier for familial epilepsies with variable phenotypes

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P2860

Genetically complex epilepsies, copy number variants and syndrome constellations.

http://www.wikidata.org/entity/Q34334100

description

2010 nî lūn-bûn

@nan

2010 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2010 թվականի հոտեմբերին հրատարակված գիտական հոդված

@hy

2010年の論文

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2010年論文

@yue

2010年論文

@zh-hant

2010年論文

@zh-hk

2010年論文

@zh-mo

2010年論文

@zh-tw

2010年论文

@wuu

name

Genetically complex epilepsies, copy number variants and syndrome constellations.

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Genetically complex epilepsies, copy number variants and syndrome constellations.

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Genetically complex epilepsies, copy number variants and syndrome constellations.

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type

label

Genetically complex epilepsies, copy number variants and syndrome constellations.

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Genetically complex epilepsies, copy number variants and syndrome constellations.

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Genetically complex epilepsies, copy number variants and syndrome constellations.

@nl

prefLabel

Genetically complex epilepsies, copy number variants and syndrome constellations.

@ast

Genetically complex epilepsies, copy number variants and syndrome constellations.

@en

Genetically complex epilepsies, copy number variants and syndrome constellations.

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Genome Medicine

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Genetically complex epilepsies, copy number variants and syndrome constellations.

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Heather C Mefford

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John C Mulley

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P2860

Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes

Finding the missing heritability of complex diseases

The allelic architecture of human disease genes: common disease-common variant... or not?

Meta-analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease

Epileptic seizures and epilepsy: definitions proposed by the International League Against Epilepsy (ILAE) and the International Bureau for Epilepsy (IBE)

Common polygenic variation contributes to risk of schizophrenia and bipolar disorder

GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies

Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy

The impact of next-generation sequencing technology on genetics

Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009

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