نتایج جستجو برای: comparative genomic hybridization

تعداد نتایج: 397000  

Journal: :Zdravstveno varstvo 2015
Sara Bertok Mojca Žerjav Tanšek Primož Kotnik Tadej Battelino Marija Volk Vanna Pecile Lisa Cleva Paolo Gasparini Jernej Kovač Tinka Hovnik

INTRODUCTION Developmental delay and dysmorphic features affect 1 - 3 % of paediatric population. In the last few years molecular cytogenetic high resolution techniques (comparative genomic hybridization arrays and single-nucleotide polymorphism arrays) have been proven to be a first-tier choice for clinical diagnostics of developmental delay and dysmorphic features. METHODS AND RESULTS In th...

2008
John B. Moeschler

Current Opinion in Neurology 2008, 21:117–122 Purpose of review The review addresses the recent discovery of large-scale copy number variations in the human genome and advances in microarray technology which together have changed the clinical genetic diagnostic approach for children with global developmental delay Recent findings Several publications in the last three years evaluate the diagnos...

2015
Arunkumar Padmanaban Donna McDade Walker

This Application Note demonstrates the use and application of the Agilent Genomic DNA ScreenTape assay in conjunction with the Agilent 2200 TapeStation system for easy sizing, quantification and quality assessment of genomic DNA samples. Intact, high quality genomic DNA in combination with accurate sample quantification is required for numerous applications, particularly array comparative genom...

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