High-resolution identification of chromosomal abnormalities using oligonucleotide arrays containing 116,204 SNPs. - Wikidata - awgldk - TriplyDB

High-resolution identification of chromosomal abnormalities using oligonucleotide arrays containing 116,204 SNPs.

High-resolution identification of chromosomal abnormalities using oligonucleotide arrays containing 116,204 SNPs.

http://www.wikidata.org/entity/Q34106761

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Clinical and molecular delineation of the 17q21.31 microdeletion syndrome CARAT: a novel method for allelic detection of DNA copy number changes using high density oligonucleotide arrays.Genome-wide copy number profiling on high-density bacterial artificial chromosomes, single-nucleotide polymorphisms, and oligonucleotide microarrays: a platform comparison based on statistical power analysis Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization.Combined Analysis of SNP Array Data Identifies Novel CNV Candidates and Pathways in Ependymoma and Mesothelioma QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data.Assessment of algorithms for high throughput detection of genomic copy number variation in oligonucleotide microarray data.A mutation in the canalicular phospholipid transporter gene, ABCB4, is associated with cholestasis, ductopenia, and cirrhosis in adults.Ploidy status and copy number aberrations in primary glioblastomas defined by integrated analysis of allelic ratios, signal ratios and loss of heterozygosity using 500K SNP Mapping Arrays.A large-scale survey of genetic copy number variations among Han Chinese residing in Taiwan Statistics and bioinformatics in nutritional sciences: analysis of complex data in the era of systems biology.Genome rearrangements detected by SNP microarrays in individuals with intellectual disability referred with possible Williams syndrome.Hybridization and amplification rate correction for affymetrix SNP arrays.Amplification ratio control system for copy number variation genotyping.Clinical applications of Genome Polymorphism Scans.High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping.Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation Genome-wide detection of human copy number variations using high-density DNA oligonucleotide arrays.Genomic landscape of meningiomas.Application of a BRAF pyrosequencing assay for mutation detection and copy number analysis in malignant melanoma.Affymetrix GeneChip system: moving from research to the clinic.Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation Diagnostic genome profiling: unbiased whole genome or targeted analysis?Oligonucleotide arrays for high-resolution analysis of copy number alteration in mental retardation/multiple congenital anomalies.A novel procedure for genotyping of single nucleotide polymorphisms in trisomy with genomic DNA and the invader assay DNA copy number analysis in gastrointestinal stromal tumors using gene expression microarrays.MLPA and MAPH: sensitive detection of deletions and duplications.A comprehensive profile of DNA copy number variations in a Korean population: identification of copy number invariant regions among Koreans Hybridization modeling of oligonucleotide SNP arrays for accurate DNA copy number estimation.Application of array-based comparative genomic hybridization to pediatric neurologic diseases Identification of frequent chromosome copy-number polymorphisms by use of high-resolution single-nucleotide-polymorphism arrays.Analysis of SNP content of 82 common copy-number polymorphisms from the Database of Genomic Variations.ADGRV1 is implicated in myoclonic epilepsy.A copy number variation genotyping method for aneuploidy detection in spontaneous abortion specimens.Detection of submicroscopic constitutional chromosome aberrations in clinical diagnostics: a validation of the practical performance of different array platforms.A maternally inherited chromosome 18q22.1 deletion in a male with late-presenting diaphragmatic hernia and microphthalmia-evaluation of DSEL as a candidate gene for the diaphragmatic defect.Single nucleotide polymorphism arrays complement metaphase cytogenetics in detection of new chromosomal lesions in MDS.

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High-resolution identification of chromosomal abnormalities using oligonucleotide arrays containing 116,204 SNPs.

http://www.wikidata.org/entity/Q34106761

description

2005 nî lūn-bûn

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2005 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

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2005 թվականի սեպտեմբերին հրատարակված գիտական հոդված

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2005年の論文

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2005年論文

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2005年論文

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2005年論文

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2005年論文

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High-resolution identification ...... rrays containing 116,204 SNPs.

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High-resolution identification ...... rrays containing 116,204 SNPs.

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High-resolution identification ...... rrays containing 116,204 SNPs.

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High-resolution identification ...... rrays containing 116,204 SNPs.

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High-resolution identification ...... rrays containing 116,204 SNPs.

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Dione K Bailey

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Giulia C Kennedy

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Howard R Slater

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Hua Ren

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K H Andy Choo

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Katrina Bell

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Manqiu Cao

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Robert Henke

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Steven Nasioulas

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A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

Light-generated oligonucleotide arrays for rapid DNA sequence analysis

Detection of large-scale variation in the human genome

Large-scale copy number polymorphism in the human genome

Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors

dChipSNP: significance curve and clustering of SNP-array-based loss-of-heterozygosity data.

Genome-wide loss of heterozygosity analysis from laser capture microdissected prostate cancer using single nucleotide polymorphic allele (SNP) arrays and a novel bioinformatics platform dChipSNP.

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