Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification - Test2 - elhamkhani - TriplyDB

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

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

http://www.wikidata.org/entity/Q24530153

about

Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome 8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new families MAPD: a probe design suite for multiplex ligation-dependent probe amplification assays Array-CGH in patients with Kabuki-like phenotype: identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberration BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1 Polymorphic segmental duplications at 8p23.1 challenge the determination of individual defensin gene repertoires and the assembly of a contiguous human reference sequence Intrinsic epigenetic regulation of the D4Z4 macrosatellite repeat in a transgenic mouse model for FSHD Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency Clinical and molecular delineation of the 17q21.31 microdeletion syndrome The mechanism of expansion and the volatility it created in three pheromone gene clusters in the mouse (Mus musculus) genome Association of factor H autoantibodies with deletions of CFHR1, CFHR3, CFHR4, and with mutations in CFH, CFI, CD46, and C3 in patients with atypical hemolytic uremic syndrome Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome Detailed analysis of 22q11.2 with a high density MLPA probe set Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplification A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome Multiplex ligation-dependent probe amplification: a diagnostic tool for simultaneous identification of different genetic markers in glial tumors PieceMaker: selection of DNA fragments for selector-guided multiplex amplification Detection of large deletions in the LDL receptor gene with quantitative PCR methods Characterization of a novel large deletion and single point mutations in the BRCA1 gene in a Greek cohort of families with suspected hereditary breast cancer Rare mutations predisposing to familial adenomatous polyposis in Greek FAP patients Rapid and quantitative detection of homologous and non-homologous recombination events using three oligonucleotide MLPA.Methylation-specific MLPA (MS-MLPA): simultaneous detection of CpG methylation and copy number changes of up to 40 sequences ProbeMaker: an extensible framework for design of sets of oligonucleotide probes.Analysis of single nucleic acid molecules in micro- and nano-fluidics Understanding the Basics of NGS: From Mechanism to Variant Calling Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concerns Quantification of HER family receptors in breast cancer Characterization and study of transgenic cultivars by capillary and microchip electrophoresis Elusive copy number variation in the mouse genome Copy number variation of genes involved in the hepatitis C virus-human interactome IKZF1 deletions predict relapse in uniformly treated pediatric precursor B-ALL.Clinical application of genetic testing for posterior uveal melanoma Appraisal of the technologies and review of the genomic landscape of ductal carcinoma in situ of the breast Prognostification of ALL by Cytogenetics

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P2860

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

http://www.wikidata.org/entity/Q24530153

description

2002 nî lūn-bûn

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2002 թուականի Յունիսին հրատարակուած գիտական յօդուած

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2002 թվականի հունիսին հրատարակված գիտական հոդված

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2002年の論文

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2002年論文

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2002年論文

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2002年論文

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2002年論文

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2002年論文

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2002年论文

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name

Relative quantification of 40 ...... -dependent probe amplification

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Relative quantification of 40 ...... -dependent probe amplification

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Relative quantification of 40 ...... -dependent probe amplification

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type

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Relative quantification of 40 ...... -dependent probe amplification

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Relative quantification of 40 ...... -dependent probe amplification

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Relative quantification of 40 ...... -dependent probe amplification

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prefLabel

Relative quantification of 40 ...... -dependent probe amplification

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Relative quantification of 40 ...... -dependent probe amplification

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Relative quantification of 40 ...... -dependent probe amplification

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Nucleic Acids Research

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Relative quantification of 40 ...... -dependent probe amplification

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P2093

Cathal J McElgunn

http://www.w3.org/2001/XMLSchema#string

Danny Zwijnenburg

http://www.w3.org/2001/XMLSchema#string

Filip Diepvens

http://www.w3.org/2001/XMLSchema#string

Gerard Pals

http://www.w3.org/2001/XMLSchema#string

Jan P Schouten

http://www.w3.org/2001/XMLSchema#string

Raymond Waaijer

http://www.w3.org/2001/XMLSchema#string

P2860

AFLP: a new technique for DNA fingerprinting

Novel, ligation-dependent PCR assay for detection of hepatitis C in serum

Differential display of eukaryotic messenger RNA by means of the polymerase chain reaction

Filamentous coliphage M13 as a cloning vehicle: insertion of a HindII fragment of the lac regulatory region in M13 replicative form in vitro

Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors

Genome-wide analysis of DNA copy-number changes using cDNA microarrays

Biochemical properties of a high fidelity DNA ligase from Thermus species AK16D

Fidelity of DNA ligation: a novel experimental approach based on the polymerisation of libraries of oligonucleotides

Measurement of locus copy number by hybridisation with amplifiable probes

Assembly of microarrays for genome-wide measurement of DNA copy number.

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10.1093/NAR/GNF056

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12

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30

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279240132

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12060695

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117299

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