Genotyping microarray for the detection of more than 200 CFTR mutations in ethnically diverse populations
about
The suitability of matrix assisted laser desorption/ionization time of flight mass spectrometry in a laboratory developed test using cystic fibrosis carrier screening as a model.Nationwide genetic analysis for molecularly unresolved cystic fibrosis patients in a multiethnic society: implications for preconception carrier screening.Systematic Classification of Disease Severity for Evaluation of Expanded Carrier Screening Panels.Distribution of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Mutations in a Cohort of Patients Residing in Palestine.A comparative study of five technologically diverse CFTR testing platformsAssessing human germ-cell mutagenesis in the Postgenome Era: a celebration of the legacy of William Lawson (Bill) Russell.Clinical application of high throughput molecular screening techniques for pharmacogenomics.An overview of current microarray-based human globin gene mutation detection methods.Causes of male infertility: a 9-year prospective monocentre study on 1737 patients with reduced total sperm counts.Evolution of prenatal diagnostic techniques from phenotypic diagnosis to gene arrays: its likely impact on prenatal diagnosis of hemophilia.Comprehensive arrayed primer extension array for the detection of 59 sequence variants in 15 conditions prevalent among the (Ashkenazi) Jewish population.Cystic fibrosis in a Hispanic adolescent.Multiplex detection and genotyping of point mutations involved in charcot-marie-tooth disease using a hairpin microarray-based assay.Genotyping microarray as a novel approach for the detection of ATP7B gene mutations in patients with Wilson disease.Molecular diagnosis of Down syndrome using quantitative APEX-2 microarrays.
P2860
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P2860
Genotyping microarray for the detection of more than 200 CFTR mutations in ethnically diverse populations
description
2005 nî lūn-bûn
@nan
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
2005年论文
@zh
2005年论文
@zh-cn
name
Genotyping microarray for the ...... ethnically diverse populations
@ast
Genotyping microarray for the ...... ethnically diverse populations
@en
type
label
Genotyping microarray for the ...... ethnically diverse populations
@ast
Genotyping microarray for the ...... ethnically diverse populations
@en
prefLabel
Genotyping microarray for the ...... ethnically diverse populations
@ast
Genotyping microarray for the ...... ethnically diverse populations
@en
P2093
P2860
P1476
Genotyping microarray for the ...... ethnically diverse populations
@en
P2093
Eneli Oitmaa
Iris Schrijver
Phyllis Gardner
P2860
P304
P356
10.1016/S1525-1578(10)60567-3
P577
2005-08-01T00:00:00Z