Breakpoint Associated with a novel 2.3 Mb deletion in the VCFS region of 22q11 and the role of Alu (SINE) in recurring microdeletions
about
Major influence of repetitive elements on disease-associated copy number variants (CNVs)Unambiguous molecular detections with multiple genetic approach for the complicated chromosome 22q11 deletion syndrome.A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and reviewAtypical 22q11.2 deletion in a patient with DGS/VCFS spectrumDetecting 22q11.2 deletions by use of multiplex ligation-dependent probe amplification on DNA from neonatal dried blood spot samples.Repetitive sequence environment distinguishes housekeeping genes.Type 2 NF1 deletions are highly unusual by virtue of the absence of nonallelic homologous recombination hotspots and an apparent preference for female mitotic recombinationEvaluation of 22q11.2 deletion in Cleft Palate patients.Transposable elements and psychiatric disorders.Increased Tbx1 expression may play a role via TGFβ-Smad2/3 signaling pathway in acute kidney injury induced by gentamicinVariation in prevalence of chromosome 22q11 deletion in subtypes of conotruncal defect in 254 children.
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P2860
Breakpoint Associated with a novel 2.3 Mb deletion in the VCFS region of 22q11 and the role of Alu (SINE) in recurring microdeletions
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2006 nî lūn-bûn
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2006 թուականին հրատարակուած գիտական յօդուած
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2006 թվականին հրատարակված գիտական հոդված
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2006年の論文
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2006年論文
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Breakpoint Associated with a n ...... E) in recurring microdeletions
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Breakpoint Associated with a n ...... E) in recurring microdeletions
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Breakpoint Associated with a n ...... E) in recurring microdeletions
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Breakpoint Associated with a n ...... E) in recurring microdeletions
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Breakpoint Associated with a n ...... E) in recurring microdeletions
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Breakpoint Associated with a n ...... E) in recurring microdeletions
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Breakpoint Associated with a n ...... E) in recurring microdeletions
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Breakpoint Associated with a n ...... E) in recurring microdeletions
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Breakpoint Associated with a n ...... E) in recurring microdeletions
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Breakpoint Associated with a n ...... E) in recurring microdeletions
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Raihan K Uddin
Richard L O'Reilly
Shiva M Singh
Victoria Mok Siu
Yang Zhang
Yao-Shan Fan
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10.1186/1471-2350-7-18
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2006-01-01T00:00:00Z
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1049104572