The clinical significance of small copy number variants in neurodevelopmental disorders - Wikidata - awgldk - TriplyDB

The clinical significance of small copy number variants in neurodevelopmental disorders

The clinical significance of small copy number variants in neurodevelopmental disorders

http://www.wikidata.org/entity/Q34238113

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Frontotemporal lobar degeneration: old knowledge and new insight into the pathogenetic mechanisms of tau mutations 5p deletions: Current knowledge and future directions.Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and MED13L haploinsufficiency syndromes Cri-Du-Chat Syndrome: Clinical Profile and Chromosomal Microarray Analysis in Six Patients.CNV analysis in Chinese children of mental retardation highlights a sex differentiation in parental contribution to de novo and inherited mutational burdens Integrated small copy number variations and epigenome maps of disorders of sex development.A 7q31.33q32.1 microdeletion including LRRC4 and GRM8 is associated with severe intellectual disability and characteristics of autism Regulation of neuronal migration, an emerging topic in autism spectrum disorders.The Mammalian Malonyl-CoA Synthetase ACSF3 Is Required for Mitochondrial Protein Malonylation and Metabolic Efficiency.Deactivating Fatty Acids: Acyl-CoA Thioesterase-Mediated Control of Lipid Metabolism.Functional roles of p120ctn family of proteins in central neurons.A pilot study on commonality and specificity of copy number variants in schizophrenia and bipolar disorder.A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype.Genome-wide association and targeted analysis of copy number variants with psoriatic arthritis in German patients.CTNND2-a candidate gene for reading problems and mild intellectual disability.High resolution chromosomal microarray analysis in paediatric obsessive-compulsive disorder.Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling.Clinical relevance of small copy-number variants in chromosomal microarray clinical testing.Developmental Defects Associated With DNA Copy Number Gain of Chromosome 2q33.1: A Case Report and Review of Literature.Low-Level Chromosomal Mosaicism in Neurodevelopmental Disorders.SATB2-associated syndrome: Mechanisms, phenotype, and practical recommendations.Multigenerational autosomal dominant inheritance of 5p chromosomal deletions.The Cytoscan HD Array in the Diagnosis of Neurodevelopmental Disorders

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The clinical significance of small copy number variants in neurodevelopmental disorders

http://www.wikidata.org/entity/Q34238113

description

2014 nî lūn-bûn

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2014 թուականի Օգոստոսին հրատարակուած գիտական յօդուած

@hyw

2014 թվականի օգոստոսին հրատարակված գիտական հոդված

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2014年の論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年论文

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name

The clinical significance of small copy number variants in neurodevelopmental disorders

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The clinical significance of small copy number variants in neurodevelopmental disorders

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The clinical significance of small copy number variants in neurodevelopmental disorders

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The clinical significance of small copy number variants in neurodevelopmental disorders

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The clinical significance of small copy number variants in neurodevelopmental disorders

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The clinical significance of small copy number variants in neurodevelopmental disorders

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The clinical significance of small copy number variants in neurodevelopmental disorders

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The clinical significance of small copy number variants in neurodevelopmental disorders

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The clinical significance of small copy number variants in neurodevelopmental disorders

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JMEDGENET-2014-102588

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Journal of Medical Genetics

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The clinical significance of small copy number variants in neurodevelopmental disorders

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Alessandra Baumer

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Anne Dieux

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Arif B Ekici

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Barbara Plecko

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Beatrice Latal

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Beatrice Oneda

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Deborah Bartholdi

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Emilia K Bijlsma

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Irene Sudholt

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Joana Cobilanschi

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P2860

Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome

An integrated map of genetic variation from 1,092 human genomes

TAO kinases mediate activation of p38 in response to DNA damage

High-resolution mapping of genotype-phenotype relationships in cri du chat syndrome using array comparative genomic hybridization

Functional impact of global rare copy number variation in autism spectrum disorders

Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25

Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder

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

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

delta-catenin, an adhesive junction-associated protein which promotes cell scattering

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677-688

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10.1136/JMEDGENET-2014-102588

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10

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51

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Heinrich Sticht

David R. FitzPatrick

Christian T Thiel

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2014-08-08T00:00:00Z

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25106414

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neurodevelopmental disorders

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4173859

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