Results 271 to 280 of about 29,886 (297)
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2016
Multiallelic copy number variants are genomic loci that can be present in a range of different copy numbers between individuals. High or low copy numbers of specific genes have been associated with different diseases. Precise genotyping of these loci can be complicated, and relies on accurate assays.
Suzan, de Boer, Stefan J, White
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Multiallelic copy number variants are genomic loci that can be present in a range of different copy numbers between individuals. High or low copy numbers of specific genes have been associated with different diseases. Precise genotyping of these loci can be complicated, and relies on accurate assays.
Suzan, de Boer, Stefan J, White
openaire +2 more sources
Detection of PAX2 Deletions and Duplications Using Multiplex Ligation-Dependent Probe Amplification
Genetic Testing and Molecular Biomarkers, 2013Renal coloboma syndrome (RCS) is a rare inherited disorder caused by mutations in the PAX2 gene. Clinical testing is currently performed by bidirectional Sanger sequencing of all 12 coding exons of the PAX2 gene, which detects point mutations or small insertion/deletion mutations.
Amy B, Karger +4 more
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[Multiplex ligation-dependent probe amplification in oncohematological diagnostics and research].
Orvosi hetilap, 2018Genetic abnormalities associated with the development, progression and treatment resistance of hematological malignancies are extensively characterized. Rapid, reliable and cost-efficient techniques are needed to screen the clinically relevant aberrations in routine diagnostics.
Richárd, Kiss +5 more
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Multiplex ligation-dependent probe amplification (MLPA) screening in meningioma
Cancer Genetics and Cytogenetics, 2007Víctor, Martínez-Glez +6 more
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Operando Scanning Electrochemical Probe Microscopy during Electrocatalysis
Chemical Reviews, 2023, Wolfgang Schuhmann, Corina Andronescu
exaly
[Prenatal diagnosis of 22q11.2 microdeletion by multiplex ligation-dependent probe amplification].
Zhonghua fu chan ke za zhi, 2014To explore the clinical value of multiplex ligation-dependent probe amplification (MLPA) technique performed in prenatal diagnosis of chromosome 22q11.2 microdeletion.MLPA was performed to detect chromosome 22q11.2 mircodeletion in 62 fetuses with congenital heart defects by fetal echocardiography and a normal karyotype by standard G-banding analysis ...
Chun-yu, Luo +11 more
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Fluorescent probe strategy for live cell distinction
Chemical Society Reviews, 2022Xiao Liu, Young Tae Chang
exaly