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pro vyhledávání: '"Fabiana Ramos Vasques"'
Autor:
Catherine S. Choong, John Beilby, Joan Uzaraga, Karen J. Woodward, Vicki Chabros, Fabiana Ramos Vasques Walters, Dimitar N. Azmanov, Sarah L. Nickerson, Dagmara A. Kennedy, Tanya Grumball, Joanne Peverall, Gillian M. Arscott, Tracey Edwards, Rebecca E. Brereton, Vanessa Marchin, Soruba Sivamoorthy, Sharron Townshend
Publikováno v:
American Journal of Medical Genetics Part A. 185:3136-3145
Silver-Russell syndrome (SRS) is a rare genetic condition primarily characterized by growth restriction and facial dysmorphisms. While hypomethylation of H19/IGF2:IG-DMR (imprinting control region 1 [IC1]) located at 11p15.5 and maternal uniparental
Akademický článek
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Autor:
Brendan O'Sullivan, Sofia Alyas, Philippe Taniere, Nayneeta Deshmukh, Mike Griffiths, Fabiana Ramos Vasques, Paula Wojtowicz, Adam J. Devall, Joseph M. Foster, Dominic J. McMullan, Karen G. Spink, Nicholas D. James, Richard T. Bryan, Maurice P. Zeegers, Douglas G. Ward, Kar Keung Cheng, Fiona S. Togneri, Assa Oumie
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, 24(8). Nature Publishing Group
European Journal of Human Genetics, 24(8). Nature Publishing Group
Urothelial bladder cancers (UBCs) have heterogeneous clinical characteristics that are mirrored in their diverse genomic profiles. Genomic profiling of UBCs has the potential to benefit routine clinical practice by providing prognostic utility above
Autor:
Fabiana Ramos Vasques, Phil Quirke, Fiona S. Togneri, Katherine E. Keating, Iris Halfpenny, Karen G. Spink, M Taylor, Debra Hau, Dominic J. McMullan, Fiona Brew, Paul Wallace Medlow, E Tinkler-Hundal, K Southward, Joseph M. Foster, Michael J. Griffiths, Keith McGreeghan-Crosby, Assa Oumie
Publikováno v:
BMC Medical Genomics
Background Adoption of new technology in both basic research and clinical settings requires rigorous validation of analytical performance. The OncoScan® FFPE Assay is a multiplexing tool that offers genome-wide copy number and loss of heterozygosity