GeneDistiller--distilling candidate genes from linkage intervals.
about
Mutations in PAX2 associate with adult-onset FSGSZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticityTargetMine, an integrated data warehouse for candidate gene prioritisation and target discoveryBioinformatics for personal genome interpretationA novel homozygous variant in the dsp gene underlies the first case of non-syndromic form of alopecia.FragIdent--automatic identification and characterisation of cDNA-fragmentsA robust linkage map of the porcine autosomes based on gene-associated SNPs.Disease gene characterization through large-scale co-expression analysisFatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations.Refinement of the GINGF3 locus for hereditary gingival fibromatosis.PINTA: a web server for network-based gene prioritization from expression data.Mutations in FKBP10 can cause a severe form of isolated Osteogenesis imperfecta.Systematic comparison of three methods for fragmentation of long-range PCR products for next generation sequencing.Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex.Text mining in cancer gene and pathway prioritization.Chapter 15: disease gene prioritization.Caspase-8 Deficiency Presenting as Late-Onset Multi-Organ Lymphocytic Infiltration with Granulomas in two Adult SiblingsA Novel Locus for Ectodermal Dysplasia of Hair, Nail and Skin Pigmentation Anomalies Maps to Chromosome 18p11.32-p11.31.OVA: integrating molecular and physical phenotype data from multiple biomedical domain ontologies with variant filtering for enhanced variant prioritization.Dintor: functional annotation of genomic and proteomic data.Discovery of candidate genes for nonsyndromic cleft lip palate through genome-wide linkage analysis of large extended families in the Malay population.GeneTIER: prioritization of candidate disease genes using tissue-specific gene expression profilesGPSy: a cross-species gene prioritization system for conserved biological processes--application in male gamete developmentEhlers-Danlos Syndrome, Hypermobility Type, Is Linked to Chromosome 8p22-8p21.1 in an Extended Belgian Family.Epidemiological and Molecular Characterization of a Mexican Population Isolate with High Prevalence of Limb-Girdle Muscular Dystrophy Type 2A Due to a Novel Calpain-3 Mutation.Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis.Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy.PosMed-plus: an intelligent search engine that inferentially integrates cross-species information resources for molecular breeding of plantsA guide to web tools to prioritize candidate genes.Candidate gene prioritization.Detection and interpretation of genomic structural variation in health and disease.Consensus strategy in genes prioritization and combined bioinformatics analysis for preeclampsia pathogenesisCandidate gene prioritization with Endeavour.Beegle: from literature mining to disease-gene discovery.Myopathology in the times of modern genetics.Rare variants in known and novel candidate genes predisposing to statin-associated myopathy.HomozygosityMapper--an interactive approach to homozygosity mapping.PosMed (Positional Medline): prioritizing genes with an artificial neural network comprising medical documents to accelerate positional cloningHomozygosityMapper2012--bridging the gap between homozygosity mapping and deep sequencing.Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations
P2860
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P2860
GeneDistiller--distilling candidate genes from linkage intervals.
description
2008 nî lūn-bûn
@nan
2008 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
GeneDistiller--distilling candidate genes from linkage intervals.
@ast
GeneDistiller--distilling candidate genes from linkage intervals.
@en
type
label
GeneDistiller--distilling candidate genes from linkage intervals.
@ast
GeneDistiller--distilling candidate genes from linkage intervals.
@en
prefLabel
GeneDistiller--distilling candidate genes from linkage intervals.
@ast
GeneDistiller--distilling candidate genes from linkage intervals.
@en
P2860
P1433
P1476
GeneDistiller--distilling candidate genes from linkage intervals.
@en
P2093
Jana Marie Schwarz
Markus Schuelke
P2860
P356
10.1371/JOURNAL.PONE.0003874
P407
P577
2008-12-05T00:00:00Z