Quantitative CNV testing in molecular diagnostics

Gorde:
Xehetasun bibliografikoak
Beste egile batzuk: Stavropoulos, Dimitri J. (Hizlaria)
Formatua: Baliabide elektronikoa Bideoa
Hizkuntza:English
Argitaratua: London : Henry Stewart Talks, 2021.
Saila:Henry Stewart talks. Biomedical & life sciences collection. Copy number variation.
Gaiak:
Sarrera elektronikoa:https://hstalks.com/bs/4687/
Series
Etiketak: Etiketa erantsi
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MARC

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040 |a UkLoHST  |b eng  |c UkLoHST 
100 1 |a Stavropoulos, Dimitri J.,  |u (University of Toronto, Canada)  |4 spk  |9 85466 
245 1 0 |a Quantitative CNV testing in molecular diagnostics  |h [electronic resource] /  |c Dimitri J. Stavropoulos. 
260 |a London :  |b Henry Stewart Talks,  |c 2021. 
300 |a 1 online resource (1 streaming video file (43 min.) :  |b color, sound). 
490 1 |a Copy number variation : expanding the repertoire of genetic alterations in studies of natural variation and disease,  |x 2056-452X 
500 |a Animated audio-visual presentation with synchronized narration. 
500 |a Title from title frames. 
505 0 |a Contents: Copy number variants (CNV) -- Brief history of hereditary genomic rearrangements and disease -- Methods of CNV detection -- Exon targeted dosage analysis -- Multiplex ligation probe amplification (MLPA) -- Microarray -- Criteria for the determination of CNV detection -- Clinical interpretation and reporting of CNVs. 
506 |a Access restricted to subscribers. 
538 |a Mode of access: World Wide Web. 
650 0 |a DNA  |x Analysis.  |9 85467 
650 0 |a Genetic disorders  |x Molecular diagnosis.  |9 85468 
650 0 |a Genetics  |x Technique.  |9 85469 
650 0 |a Molecular diagnosis.  |9 85470 
650 0 |a Molecular genetics.  |9 85471 
650 2 |a DNA Copy Number Variations.  |9 85472 
650 2 |a Genetic Diseases, Inborn  |x diagnosis.  |9 85473 
650 2 |a Genetics, Medical.  |9 85474 
650 2 |a Genomics  |x methods.  |9 85475 
650 2 |a Molecular Diagnostic Techniques.  |9 85476 
650 2 |a Pathology, Molecular.  |9 85477 
830 0 |a Henry Stewart talks.  |p Biomedical & life sciences collection.  |p Copy number variation.  |9 85478 
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