DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation
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The Human Phenotype Ontology: Semantic Unification of Common and Rare DiseaseWikidata as a semantic framework for the Gene Wiki initiativeNovel bioinformatic developments for exome sequencingPhenotype-driven strategies for exome prioritization of human Mendelian disease genes.Disease insights through cross-species phenotype comparisonsThe Human Phenotype Ontology in 2017Connecting the CNTNAP2 Networks with Neurodevelopmental DisordersFacilitating collaboration in rare genetic disorders through effective matchmaking in DECIPHEREnsembl 2015The 2014 Nucleic Acids Research Database Issue and an updated NAR online Molecular Biology Database Collection.What's that gene (or protein)? Online resources for exploring functions of genes, transcripts, and proteins.Systematic analysis of copy number variants of a large cohort of orofacial cleft patients identifies candidate genes for orofacial clefts.Genomic data sharing for translational research and diagnosticsGenetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research dataPrinciple of proportionality in genomic data sharing.PHENOstruct: Prediction of human phenotype ontology terms using heterogeneous data sourcesStructural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders.Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder-implications of a copy number variation involving DPP10Finding people who will tell you their thoughts on genomics-recruitment strategies for social sciences researchWhole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability.Genenames.org: the HGNC resources in 201519q13.11 microdeletion concomitant with ins(2;19)(p25.3;q13.1q13.4)dn in a boy: potential role of UBA2 in the associated phenotypeGene networks underlying convergent and pleiotropic phenotypes in a large and systematically-phenotyped cohort with heterogeneous developmental disorders.Exome Sequencing in Fetuses with Structural MalformationsTargeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases.Systematic identification of phenotypically enriched loci using a patient network of genomic disordersGenetic Variants in Isolated Ebstein Anomaly Implicated in Myocardial Development Pathways.B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability.DIDA: A curated and annotated digenic diseases database.Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: application to the WD40 domain.Multiple Small Supernumerary Marker Chromosomes Resulting from Maternal Meiosis I or II ErrorsThe Ensembl Variant Effect Predictor.Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly.Returning genome sequences to research participants: Policy and practice.The challenge for the next generation of medical geneticists.Microarray Technology for the Diagnosis of Fetal Chromosomal Aberrations: Which Platform Should We Use?Axons to Exons: the Molecular Diagnosis of Rare Neurological Diseases by Next-Generation Sequencing.Human genotype-phenotype databases: aims, challenges and opportunities.Genetics of movement disorders in the next-generation sequencing era.
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P2860
DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation
description
2014 nî lūn-bûn
@nan
2014 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
DECIPHER: database for the int ...... ence and copy-number variation
@ast
DECIPHER: database for the int ...... ence and copy-number variation
@en
DECIPHER: database for the int ...... ence and copy-number variation
@nl
type
label
DECIPHER: database for the int ...... ence and copy-number variation
@ast
DECIPHER: database for the int ...... ence and copy-number variation
@en
DECIPHER: database for the int ...... ence and copy-number variation
@nl
prefLabel
DECIPHER: database for the int ...... ence and copy-number variation
@ast
DECIPHER: database for the int ...... ence and copy-number variation
@en
DECIPHER: database for the int ...... ence and copy-number variation
@nl
P2093
P2860
P50
P3181
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DECIPHER: database for the int ...... ence and copy-number variation
@en
P2093
Eleni A Chatzimichali
Eugene Bragin
Helen V Firth
Matthew E Hurles
P2860
P304
D993-D1000
P3181
P356
10.1093/NAR/GKT937
P407
P433
Database issue
P577
2013-10-22T00:00:00Z