Výsledky vyhledávání - Silvana Del Vecchio Duarte

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  1. 1
    Germline mutations in the PAF1 complex gene CTR9 predispose to Wilms tumour

    Germline mutations in the PAF1 complex gene CTR9 predispose to Wilms tumour Autor Sandra Hanks, Elizabeth R Perdeaux, Sheila Seal, Elise Ruark, Shazia Mahamdallie, Anne R. Murray, Emma Ramsay, Silvana Del Vecchio Duarte, Anna Zachariou, Bianca de Souza, Margaret Warren-Perry, Anna Elliott, Alan Davidson, Helen P. Price, Charles Stiller, Kathy Pritchard‐Jones, Nazneen Rahman

    Vydáno 2014
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  2. 2
    Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability

    Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability Autor Katrina Tatton‐Brown, Sheila Seal, Elise Ruark, Jenny E. Harmer, Emma Ramsay, Silvana Del Vecchio Duarte, Anna Zachariou, Sandra Hanks, Eleanor M. O’Brien, Lise Aksglæde, Diana Baralle, Tabib Dabir, Blanca Gener, David Goudie, Tessa Homfray, Ajith Kumar, Daniela T. Pilz, Angelo Selicorni, I. Karen Temple, Lionel Van Maldergem, Naomi Yachelevich, Robert van Montfort, Nazneen Rahman

    Vydáno 2014
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  3. 3
    Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height

    Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height Autor Katrina Tatton‐Brown, Sandra Hanks, Elise Ruark, Anna Zachariou, Silvana Del Vecchio Duarte, Emma Ramsay, Katie Snape, Anne R. Murray, Elizabeth R Perdeaux, Sheila Seal, Chey Loveday, Siddharth Banka, Carol L. Clericuzio, Frances Flinter, Alex Magee, Vivienne McConnell, Michael A. Patton, Wolfgang Raith, Julia Rankin, Miranda Splitt, Volker Strenger, Clare Taylor, Patricia G. Wheeler, I. Karen Temple, Trevor Cole, Jenny Douglas, Nazneen Rahman

    Vydáno 2011
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  4. 4
    Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer

    Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer Autor Elise Ruark, Katie Snape, Peter Humburg, Chey Loveday, Ilirjana Bajrami, Rachel Brough, Daniel Nava Rodrigues, Anthony Renwick, Sheila Seal, Emma Ramsay, Silvana Del Vecchio Duarte, Manuel A. Rivas, Margaret Warren-Perry, Anna Zachariou, Adriana Campion‐Flora, Sandra Hanks, Anne R. Murray, Naser Ansari‐Pour, Jenny Douglas, Lorna Gregory, Andrew J. Rimmer, Neil Walker, Tsun-Po Yang, Julian Adlard, Julian Barwell, Jonathan Berg, Angela F. Brady, Carole Brewer, Glen Brice, Cyril Chapman, Jackie Cook, Rosemarie Davidson, Alan Donaldson, Fiona Douglas, Diana Eccles, D. Gareth Evans, Lynn Greenhalgh, Alex Henderson, Louise Izatt, Ajith Kumar, Fiona Lalloo, Zosia Miedzybrodzka, Patrick J. Morrison, Joan Paterson, Mary Porteous, Mark T. Rogers, Susan Shanley, Lisa Walker, Martin Gore, Richard S. Houlston, Matthew A. Brown, Mark J. Caufield, Panos Deloukas, Mark I. McCarthy, John A. Todd, Clare Turnbull, Jorge S. Reis‐Filho, Alan Ashworth, Antonis C. Antoniou, Christopher J. Lord, Peter Donnelly, Nazneen Rahman

    Vydáno 2012
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