Chip-based mtDNA mutation screening enables fast and reliable genetic diagnosis of OXPHOS patients.

Chip-based mtDNA mutation screening enables fast and reliable genetic diagnosis of OXPHOS patients.

Item
http://www.wikidata.org/entity/Q27990522
Biochemical diagnosis of mitochondrial disordersValidation of microarray-based resequencing of 93 worldwide mitochondrial genomesFacile whole mitochondrial genome resequencing from nipple aspirate fluid using MitoChip v2.0.Detection of genomic variation by selection of a 9 mb DNA region and high throughput sequencing.MtSNPscore: a combined evidence approach for assessing cumulative impact of mitochondrial variations in disease.MitoLSDB: a comprehensive resource to study genotype to phenotype correlations in human mitochondrial DNA variations.Contribution of non-reference alleles in mtDNA of Alzheimer's disease patientsMitochondrial abnormalities in temporal lobe of autistic brainAdvances in molecular diagnostics for mitochondrial diseases.Large scale mtDNA sequencing reveals sequence and functional conservation as major determinants of homoplasmic mtDNA variant distribution.MITOMASTER: a bioinformatics tool for the analysis of mitochondrial DNA sequences.Whole-mitochondrial genome sequencing in primary open-angle glaucoma using massively parallel sequencing identifies novel and known pathogenic variants.Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause
P2860

Chip-based mtDNA mutation screening enables fast and reliable genetic diagnosis of OXPHOS patients.

Item
http://www.wikidata.org/entity/Q27990522
description
2006 nî lūn-bûn
@nan
2006 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
Chip-based mtDNA mutation scre ...... diagnosis of OXPHOS patients.
@ast
Chip-based mtDNA mutation scre ...... diagnosis of OXPHOS patients.
@en
Chip-based mtDNA mutation scre ...... diagnosis of OXPHOS patients.
@nl
type
label
Chip-based mtDNA mutation scre ...... diagnosis of OXPHOS patients.
@ast
Chip-based mtDNA mutation scre ...... diagnosis of OXPHOS patients.
@en
Chip-based mtDNA mutation scre ...... diagnosis of OXPHOS patients.
@nl
prefLabel
Chip-based mtDNA mutation scre ...... diagnosis of OXPHOS patients.
@ast
Chip-based mtDNA mutation scre ...... diagnosis of OXPHOS patients.
@en
Chip-based mtDNA mutation scre ...... diagnosis of OXPHOS patients.
@nl
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P6179
P698
P356
P1433
P1476
Chip-based mtDNA mutation scre ...... diagnosis of OXPHOS patients.
@en
P2093
P2860
P2888
P304
P31
P356
10.1097/01.GIM.0000237782.94878.05
P407
P433
P478
P50
P577
P5875
P6179
P698