Somatic mutations in cerebral cortical malformations. - Wikidata - awgldk - TriplyDB

Somatic mutations in cerebral cortical malformations.

Somatic mutations in cerebral cortical malformations.

http://www.wikidata.org/entity/Q34763259

about

Achieving high-sensitivity for clinical applications using augmented exome sequencing Somatic mutations in disorders with disrupted brain connectivity Unrevealed mosaicism in the next-generation sequencing era Advancing epilepsy genetics in the genomic era Genetic changes shaping the human brain Somatic mosaicism in the human genome Clinical application of next-generation sequencing for Mendelian diseases Somatic mosaicism: implications for disease and transmission genetics Hyperactive mTOR signals in the proopiomelanocortin-expressing hippocampal neurons cause age-dependent epilepsy and premature death in mice New insights into the generation and role of de novo mutations in health and disease The fetal thymus has a unique genomic copy number profile resulting from physiological T cell receptor gene rearrangement Somatic mosaicism underlies X-linked acrogigantism syndrome in sporadic male subjects De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia.SoloDel: a probabilistic model for detecting low-frequent somatic deletions from unmatched sequencing data.MosaicHunter: accurate detection of postzygotic single-nucleotide mosaicism through next-generation sequencing of unpaired, trio, and paired samples.Genomic variants and variations in malformations of cortical development.Brain overgrowth in disorders of RTK-PI3K-AKT signaling: a mosaic of malformations.Single-cell, genome-wide sequencing identifies clonal somatic copy-number variation in the human brain Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTOR.Mitochondrial mutations in subjects with psychiatric disorders Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia.Vecuum: identification and filtration of false somatic variants caused by recombinant vector contamination.Estimating Exceptionally Rare Germline and Somatic Mutation Frequencies via Next Generation Sequencing.Are Somatic Mutations in Cortical Development the One Bad Apple That Spoils the Bunch?The Contribution of Mosaic Variants to Autism Spectrum Disorder.A roadmap for precision medicine in the epilepsies.Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms.Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study.KIF1A inhibition immortalizes brain stem cells but blocks BDNF-mediated neuronal migration.Pathway-driven discovery of epilepsy genes.CCDC141 Mutation Identified in Anosmic Hypogonadotropic Hypogonadism (Kallmann Syndrome) Alters GnRH Neuronal Migration Application of Peptide Nucleic Acid-based Assays Toward Detection of Somatic Mosaicism Early somatic mosaicism is a rare cause of long-QT syndrome.When Should Genetic Testing Be Performed in Epilepsy Patients?Genomic strategies to understand causes of keratoconus.Mosaicism and clinical genetics.Mitochondrial Heteroplasmy.Epilepsy in 2014. Novel and large collaborations drive advances in epilepsy.Characterization of early communicative behavior in mouse models of neurofibromatosis type 1.

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Somatic mutations in cerebral cortical malformations.

http://www.wikidata.org/entity/Q34763259

description

2014 nî lūn-bûn

@nan

2014 թուականի Օգոստոսին հրատարակուած գիտական յօդուած

@hyw

2014 թվականի օգոստոսին հրատարակված գիտական հոդված

@hy

2014年の論文

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2014年論文

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2014年論文

@zh-hant

2014年論文

@zh-hk

2014年論文

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2014年論文

@zh-tw

2014年论文

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name

Somatic mutations in cerebral cortical malformations.

@ast

Somatic mutations in cerebral cortical malformations.

@en

Somatic mutations in cerebral cortical malformations.

@nl

type

label

Somatic mutations in cerebral cortical malformations.

@ast

Somatic mutations in cerebral cortical malformations.

@en

Somatic mutations in cerebral cortical malformations.

@nl

prefLabel

Somatic mutations in cerebral cortical malformations.

@ast

Somatic mutations in cerebral cortical malformations.

@en

Somatic mutations in cerebral cortical malformations.

@nl

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P1433

The New England Journal of Medicine

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Somatic mutations in cerebral cortical malformations.

@en

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A James Barkovich

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Aldo Rozzo

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Alissa M D'Gama

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Anh-Thu N Lam

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Annapurna Poduri

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Bai Lin Wu

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Bernard S Chang

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Brenda J Barry

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

Christopher A Walsh

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Deborah A Nickerson

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

P2860

Predicting deleterious amino acid substitutions

Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria

A mosaic activating mutation in AKT1 associated with the Proteus syndrome

De novo mutations in epileptic encephalopathies

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

Emerging patterns of somatic mutations in cancer

A method and server for predicting damaging missense mutations

Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ

Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia

Somatic mutation, genomic variation, and neurological disease

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733-743

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scholarly article

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10.1056/NEJMOA1314432

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P433

8

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371

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Ingrid Scheffer

Xiaochang Zhang

Samuel Berkovic

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2014-08-01T00:00:00Z

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25140959

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4274952

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