Human MLPA Probe Design (H-MAPD): a probe design tool for both electrophoresis-based and bead-coupled human multiplex ligation-dependent probe amplification assays.
about
MAPD: a probe design suite for multiplex ligation-dependent probe amplification assaysPhenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controlsTwo new rapid SNP-typing methods for classifying Mycobacterium tuberculosis complex into the main phylogenetic lineagesValidation and implementation of array comparative genomic hybridisation as a first line test in place of postnatal karyotyping for genome imbalance.MLPA for confirmation of array CGH results and determination of inheritance.A novel autosomal dominant condition consisting of congenital heart defects and low atrial rhythm maps to chromosome 9qCharacterization of the first intragenic SATB2 duplication in a girl with intellectual disability, nearly absent speech and suspected hypodontiaApplication of multiplex ligation-dependent probe amplification, and identification of a heterozygous Alu-associated deletion and a uniparental disomy of chromosome 1 in two patients with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.Lipid levels in HIV-positive men receiving anti-retroviral therapy are not associated with copy number variation of reverse cholesterol transport pathway genes.Contribution of global rare copy-number variants to the risk of sporadic congenital heart diseaseMultiplex ligase-based genotyping methods combined with CE.Heterozygous carriers of succinyl-CoA:3-oxoacid CoA transferase deficiency can develop severe ketoacidosis.Copy number variant analysis in CHM to detect duplications underlying choroideremia.ADGRV1 is implicated in myoclonic epilepsy.Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability.Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy.Characterization of large deletions in the DHCR7 gene.
P2860
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P2860
Human MLPA Probe Design (H-MAPD): a probe design tool for both electrophoresis-based and bead-coupled human multiplex ligation-dependent probe amplification assays.
description
2008 nî lūn-bûn
@nan
2008 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年学术文章
@wuu
2008年学术文章
@zh-cn
2008年学术文章
@zh-hans
2008年学术文章
@zh-my
2008年学术文章
@zh-sg
2008年學術文章
@yue
name
Human MLPA Probe Design (H-MAP ...... nt probe amplification assays.
@ast
Human MLPA Probe Design (H-MAP ...... nt probe amplification assays.
@en
type
label
Human MLPA Probe Design (H-MAP ...... nt probe amplification assays.
@ast
Human MLPA Probe Design (H-MAP ...... nt probe amplification assays.
@en
prefLabel
Human MLPA Probe Design (H-MAP ...... nt probe amplification assays.
@ast
Human MLPA Probe Design (H-MAP ...... nt probe amplification assays.
@en
P2860
P356
P1433
P1476
Human MLPA Probe Design (H-MAP ...... nt probe amplification assays.
@en
P2093
Eli Hatchwell
P2860
P2888
P356
10.1186/1471-2164-9-407
P407
P577
2008-09-10T00:00:00Z
P5875
P6179
1005187700