DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources - Wikidata - awgldk - TriplyDB

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

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

http://www.wikidata.org/entity/Q24644530

about

arrayMap: a reference resource for genomic copy number imbalances in human malignancies myKaryoView: a light-weight client for visualization of genomic data Capturing phenotypes for precision medicine DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP Genenames.org: the HGNC resources in 2013 dbCRID: a database of chromosomal rearrangements in human diseases The UCSC Genome Browser database: update 2011 Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans Contribution of SHANK3 mutations to autism spectrum disorder Global implementation of genomic medicine: We are not alone The Current Landscape of Genetic Testing in Cardiovascular Malformations: Opportunities and Challenges Inherited platelet disorders: toward DNA-based diagnosis Mechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome Rearrangements MEF2 transcription factors: developmental regulators and emerging cancer genes DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice.The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data Major influence of repetitive elements on disease-associated copy number variants (CNVs)De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females A copy number variation map of the human genome The clustering of functionally related genes contributes to CNV-mediated disease Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features The UCSC genome browser and associated tools A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders Mutations in DEPDC5 cause familial focal epilepsy with variable foci Functional characterization of rare FOXP2 variants in neurodevelopmental disorder.Facilitating collaboration in rare genetic disorders through effective matchmaking in DECIPHER Guidelines for investigating causality of sequence variants in human disease The Growing Importance of CNVs: New Insights for Detection and Clinical Interpretation Developing and implementing an institute-wide data sharing policy Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation Exome sequencing identifies a recurrent de novo ZSWIM6 mutation associated with acromelic frontonasal dysostosis.A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3 A copy number variation morbidity map of developmental delay Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23.Complex and Dynamic Chromosomal Rearrangements in a Family With Seemingly Non-Mendelian Inheritance of Dopa-Responsive Dystonia.Registered access: a 'Triple-A' approach.Deletion of protein tyrosine phosphatase, non-receptor type 4 (PTPN4) in twins with a Rett syndrome-like phenotype

P2860

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P2860

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

http://www.wikidata.org/entity/Q24644530

description

2009 nî lūn-bûn

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2009 թուականի Ապրիլին հրատարակուած գիտական յօդուած

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2009 թվականի ապրիլին հրատարակված գիտական հոդված

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2009年の論文

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2009年論文

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2009年論文

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2009年論文

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2009年論文

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American Journal of Human Genetics

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P2860

Initial sequencing and analysis of the human genome

Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes

The distributed annotation system

Finishing the euchromatic sequence of the human genome

EBIMed--text crunching to gather facts for proteins from Medline

Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

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