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    Prevalence and architecture of de novo mutations in developmental disorders von McRae, Jeremy F, Clayton, Stephen, Mason, Laura E, Tivey, Adrian R, Ahmed, Munaza, Awada, Jana, Balasubramanian, Meena, Banka, Siddharth, Bennett, Chris, Bernhard, Birgitta, Bevan, A. Paul, Blair, Edward, Blyth, Moira, Burn, John, Castle, Bruce, Clasper, Susan, Collins, Amanda, Collinson, Morag N, Dabir, Tabib, Davidson, Rosemarie, Davies, Sally, Dean, John, Donnai, Dian, Ellard, Sian, Ellis, Ian, Everest, Sarah, Foulds, Nicola, Fryer, Alan, Gaunt, Lorraine, Goudie, David, Gray, Emma, Greene, Philip, Gribble, Susan, Henderson, Alex, Hildyard, Lucy, Holden, Simon, Holder, Muriel, Ingram, Stuart, Jackson, Andrew, Kaemba, Beckie, Kazembe, Sandra, Kinning, Esther, Kraus, Alison, Kumar, V. K. Ajith, Lachlan, Katherine, Lam, Wayne, Lim, Derek, Longman, Cheryl, Lynch, Sally A, Maher, Eddy, Maye, Una, McKay, Kirsten, McWilliam, Catherine, Metcalfe, Kay, Morgan, Sian, Murday, Victoria, Murphy, Helen, Nemeth, Andrea, Nevitt, Louise, Newbury-Ecob, Ruth, Park, Soo-Mi, Paterson, Joan, Payne, Stewart, Perrett, Daniel, Pratt, Norman, Quarrell, Oliver, Randall, Josh, Rankin, Julia, Raymond, Lucy, Robert, Leema, Roberts, Paul, Saggar, Anand, Samant, Shalaka, Sampson, Julian, Sandford, Richard, Selby, Ann, Sequeira, Cheryl, Shearing, Emma, Smith, Audrey, Smith, Kath, Splitt, Miranda, Suri, Mohnish, Sutton, Vivienne, Tatton-Brown, Kate, Temple, I. Karen, Turner, Claire, Varghese, Vinod, Vasudevan, Pradeep, Vogt, Julie, Wakeling, Emma, Wilcox, Sarah, Williams, Denise, Williams, Nicola, Wilson, Louise, Wright, Michael, Yates, Laura, Yau, Michael, Wright, Caroline F, FitzPatrick, David R, Barrett, Jeffrey C

    Veröffentlicht in Nature (London)

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    Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations von Northrup, Hope, Aronow, Mary E., Bebin, E. Martina, Bissler, John, Darling, Thomas N., de Vries, Petrus J., Frost, Michael D., Gosnell, Elizabeth S., Gupta, Nishant, Jansen, Anna C., Jóźwiak, Sergiusz, Kingswood, J. Chris, Knilans, Timothy K., McCormack, Francis X., Pounders, Ashley, Roberds, Steven L., Rodriguez-Buritica, David F., Roth, Jonathan, Sampson, Julian R., Sparagana, Steven, Thiele, Elizabeth Anne, Weiner, Howard L., Wheless, James W., Towbin, Alexander J., Krueger, Darcy A., Annear, Nicholas M.P., Aronow, Mary E., Bebin, E. Martina, Bissler, John J., Budde, Klemens, Byars, Anna, Chugani, Harry, Cowen, Edward W., Crino, Peter B., Curatolo, Paolo, Darling, Thomas N., de Vries, Petrus, Dilling, Daniel F., Dunn, David W., Ekong, Rosmary, Ess, Kevin C., Franz, David N., Frost, Michael, Gosnell, Elizabeth, Guay-Woodford, Lisa, Gupta, Nishant, Haddad, Luciana, Halbert, Anne, Hebert, Adelaide A., Henske, Elizabeth P., Hook, Dena, Hulbert, John, Jansen, Anna, Johnson, Simon R., Jóźwiak, Sergiusz, King, Bryan, Knilans, Timothy K., Koenig, Mary Kay, Korf, Bruce, Krueger, Darcy A., McCormack, Francis X., Moss, Joel, Mowat, David, Mowrey, Kate, Nabbout, Rima, Nellist, Mark D., Northrup, Hope, O'Callaghan, Finbar, Patel, Uday, Pounders, Ashley, Roach, E. Steve, Roberds, Steven L., Rodriguez-Buritica, David, Romp, Robb, Roth, Jonathan, Rozenberg, Micaela, Ruoss, Stephen J., Sahin, Mustafa, Sampson, Julian, Samuels, Joshua A., Sauter, Matthias, Smith, Catherine A., Soltani, Keyomaurs, Sparagana, Steven, Srivastava, Shoba, Stuart, Clare, Teng, Joyce M.C., Thiele, Elizabeth A., Towbin, Alexander J., Trout, Andrew, van Eeghen, Agnies, Vanclooster, Stephanie, Wang, Henry Z., Wataya-Kaneda, Mari, Weiner, Howard L., Wheless, James W., Witman, Patricia, Wright, Tim, Wu, Joyce Y., Young, Lisa

    Veröffentlicht in Pediatric neurology

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