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Autor:
Martin, Hilary C., Gardner, Eugene J., Samocha, Kaitlin E., Kaplanis, Joanna, Akawi, Nadia, Sifrim, Alejandro, Eberhardt, Ruth Y., Tavares, Ana Lisa Taylor, Neville, Matthew D. C., Niemi, Mari E. K., Gallone, Giuseppe, McRae, Jeremy, Wright, Caroline F., FitzPatrick, David R., Firth, Helen V., Hurles, Matthew E., Borras, Silvia, Clark, Caroline, Dean, John, Miedzybrodzka, Zosia, Ross, Alison, Tennant, Stephen, Dabir, Tabib, Donnelly, Deirdre, Humphreys, Mervyn, Magee, Alex, McConnell, Vivienne, McKee, Shane, McNerlan, Susan, Morrison, Patrick J., Rea, Gillian, Stewart, Fiona, Cole, Trevor, Cooper, Nicola, Cooper-Charles, Lisa, Cox, Helen, Islam, Lily, Jarvis, Joanna, Keelagher, Rebecca, Lim, Derek, McMullan, Dominic, Morton, Jenny, Naik, Swati, O’Driscoll, Mary, Ong, Kai-Ren, Osio, Deborah, Ragge, Nicola, Turton, Sarah, Vogt, Julie, Williams, Denise, Bodek, Simon, Donaldson, Alan, Hills, Alison, Low, Karen, Newbury-Ecob, Ruth, Norman, Andrew M., Roberts, Eileen, Scurr, Ingrid, Smithson, Sarah, Tooley, Madeleine, Abbs, Steve, Armstrong, Ruth, Dunn, Carolyn, Holden, Simon, Park, Soo-Mi, Paterson, Joan, Raymond, Lucy, Reid, Evan, Sandford, Richard, Simonic, Ingrid, Tischkowitz, Marc, Woods, Geoff, Bradley, Lisa, Comerford, Joanne, Green, Andrew, Lynch, Sally, McQuaid, Shirley, Mullaney, Brendan, Berg, Jonathan, Goudie, David, Mavrak, Eleni, McLean, Joanne, McWilliam, Catherine, Reavey, Eleanor, Azam, Tara, Cleary, Elaine, Jackson, Andrew, Lam, Wayne, Lampe, Anne, Moore, David, Porteous, Mary, Baple, Emma, Baptista, Júlia, Brewer, Carole, Castle, Bruce, Kivuva, Emma, Owens, Martina, Rankin, Julia, Shaw-Smith, Charles, Turner, Claire, Turnpenny, Peter, Tysoe, Carolyn, Bradley, Therese, Davidson, Rosemarie, Gardiner, Carol, Joss, Shelagh, Kinning, Esther, Longman, Cheryl, McGowan, Ruth, Murday, Victoria, Pilz, Daniela, Tobias, Edward, Whiteford, Margo, Williams, Nicola, Barnicoat, Angela, Clement, Emma, Faravelli, Francesca, Hurst, Jane, Jenkins, Lucy, Jones, Wendy, Kumar, V.K.Ajith, Lees, Melissa, Loughlin, Sam, Male, Alison, Morrogh, Deborah, Rosser, Elisabeth, Scott, Richard, Wilson, Louise, Beleza, Ana, Deshpande, Charu, Flinter, Frances, Holder, Muriel, Irving, Melita, Izatt, Louise, Josifova, Dragana, Mohammed, Shehla, Molenda, Aneta, Robert, Leema, Roworth, Wendy, Ruddy, Deborah, Ryten, Mina, Yau, Shu, Bennett, Christopher, Blyth, Moira, Campbell, Jennifer, Coates, Andrea, Dobbie, Angus, Hewitt, Sarah, Hobson, Emma, Jackson, Eilidh, Jewell, Rosalyn, Kraus, Alison, Prescott, Katrina, Sheridan, Eamonn, Thomson, Jenny, Bradshaw, Kirsty, Dixit, Abhijit, Eason, Jacqueline, Haines, Rebecca, Harrison, Rachel, Mutch, Stacey, Sarkar, Ajoy, Searle, Claire, Shannon, Nora, Sharif, Abid, Suri, Mohnish, Vasudevan, Pradeep, Canham, Natalie, Ellis, Ian, Greenhalgh, Lynn, Howard, Emma, Stinton, Victoria, Swale, Andrew, Weber, Astrid, Banka, Siddharth, Breen, Catherine, Briggs, Tracy, Burkitt-Wright, Emma, Chandler, Kate, Clayton-Smith, Jill, Donnai, Dian, Douzgou, Sofia, Gaunt, Lorraine, Jones, Elizabeth, Kerr, Bronwyn, Langley, Claire, Metcalfe, Kay, Smith, Audrey, Wright, Ronnie, Bourn, David, Burn, John, Fisher, Richard, Hellens, Steve, Henderson, Alex, Montgomery, Tara, Splitt, Miranda, Straub, Volker, Wright, Michael, Zwolinski, Simon, Allen, Zoe, Bernhard, Birgitta, Brady, Angela, Brooks, Claire, Busby, Louise, Clowes, Virginia, Ghali, Neeti, Holder, Susan, Ibitoye, Rita, Wakeling, Emma, Blair, Edward, Carmichael, Jenny, Cilliers, Deirdre, Clasper, Susan, Gibbons, Richard, Kini, Usha, Lester, Tracy, Nemeth, Andrea, Poulton, Joanna, Price, Sue, Shears, Debbie, Stewart, Helen, Wilkie, Andrew, Albaba, Shadi, Baker, Duncan, Balasubramanian, Meena, Johnson, Diana, Parker, Michael, Quarrell, Oliver, Stewart, Alison, Willoughby, Josh, Crosby, Charlene, Elmslie, Frances, Homfray, Tessa, Jin, Huilin, Lahiri, Nayana, Mansour, Sahar, Marks, Karen, McEntagart, Meriel, Saggar, Anand, Tatton-Brown, Kate, Butler, Rachel, Clarke, Angus, Corrin, Sian, Fry, Andrew, Kamath, Arveen, McCann, Emma, Mugalaasi, Hood, Pottinger, Caroline, Procter, Annie, Sampson, Julian, Sansbury, Francis, Varghese, Vinod, Baralle, Diana, Callaway, Alison, Cassidy, Emma J., Daniels, Stacey, Douglas, Andrew, Foulds, Nicola, Hunt, David, Kharbanda, Mira, Lachlan, Katherine, Mercer, Catherine, Side, Lucy, Temple, I. Karen, Wellesley, Diana
Over 130 X-linked genes have been robustly associated with developmental disorders, and X-linked causes have been hypothesised to underlie the higher developmental disorder rates in males. Here, we evaluate the burden of X-linked coding variation in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cfeb11bdc3048d72d0ca00dd9a5d5c49
Akademický článek
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Akademický článek
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Akademický článek
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Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
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Autor:
Thomas R. W. Oliver, Lia Chappell, Rashesh Sanghvi, Lauren Deighton, Naser Ansari-Pour, Stefan C. Dentro, Matthew D. Young, Tim H. H. Coorens, Hyunchul Jung, Tim Butler, Matthew D. C. Neville, Daniel Leongamornlert, Mathijs A. Sanders, Yvette Hooks, Alex Cagan, Thomas J. Mitchell, Isidro Cortes-Ciriano, Anne Y. Warren, David C. Wedge, Rakesh Heer, Nicholas Coleman, Matthew J. Murray, Peter J. Campbell, Raheleh Rahbari, Sam Behjati
Publikováno v:
Nature Communications, 13(1):4272. Nature Publishing Group
Funder: Max Williamson Fund
Germ cell tumours (GCTs) are a collection of benign and malignant neoplasms derived from primordial germ cells. They are uniquely able to recapitulate embryonic and extraembryonic tissues, which carries prognostic and
Germ cell tumours (GCTs) are a collection of benign and malignant neoplasms derived from primordial germ cells. They are uniquely able to recapitulate embryonic and extraembryonic tissues, which carries prognostic and
Autor:
Martin HC; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK. hcm@sanger.ac.uk., Gardner EJ; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK., Samocha KE; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK., Kaplanis J; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK., Akawi N; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.; Division of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK., Sifrim A; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.; Department of Human Genetics, University of Leuven, Leuven, Belgium., Eberhardt RY; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK., Tavares ALT; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.; Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.; Genomics England, Queen Mary University of London, London, EC1M 6BQ, UK., Neville MDC; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK., Niemi MEK; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.; Institute for Molecular Medicine Finland, University of Helsinki, Tukholmankatu 8, Helsinki, FI-00014, Finland., Gallone G; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.; Max Planck Institute for Molecular Genetics, Ihnestraße 63, 14195, Berlin, Germany., McRae J; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.; Illumina Inc., 5200 Illumina Way, San Diego, CA, 92122, USA., Wright CF; Institute of Biomedical & Clinical Science, University of Exeter Medical School, Exeter, EX2 5DW, UK., FitzPatrick DR; MRC Human Genetics Unit, MRC IGMM, University of Edinburgh, Western General Hospital, Edinburgh, EH4 2XU, UK., Firth HV; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.; Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Hurles ME; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.
Publikováno v:
Nature communications [Nat Commun] 2021 Jan 27; Vol. 12 (1), pp. 627. Date of Electronic Publication: 2021 Jan 27.