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Genome biology, Vol. 8, No. 2. (09 February 2007), R19.
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Journal of medical genetics, Vol. 46, No. 8. (21 August 2009), pp. 511-523.
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The New England journal of medicine, Vol. 359, No. 16. (16 October 2008), pp. 1685-1699.
by Heather C. Mefford, Andrew J. Sharp, Carl Baker, et al.Andy Itsara, Zhaoshi Jiang, Karen Buysse, Shuwen Huang, Viv K. Maloney, John A. Crolla, Diana Baralle, Amanda Collins, Catherine Mercer, Koen Norga, Thomy de Ravel, Koen Devriendt, Ernie M. Bongers, Nicole de Leeuw, William Reardon, Stefania Gimelli, Frederique Bena, Raoul C. Hennekam, Alison Male, Lorraine Gaunt, Jill Clayton-Smith, Ingrid Simonic, Soo Mi M. Park, Sarju G. Mehta, Serena Nik-Zainal, C. Geoffrey Woods, Helen V. Firth, Georgina Parkin, Marco Fichera, Santina Reitano, Mariangela Lo Giudice, Kelly E. Li, Iris Casuga, Adam Broomer, Bernard Conrad, Markus Schwerzmann, Lorenz Räber, Sabina Gallati, Pasquale Striano, Antonietta Coppola, John L. Tolmie, Edward S. Tobias, Chris Lilley, Lluis Armengol, Yves Spysschaert, Patrick Verloo, Anja De Coene, Linde Goossens, Geert Mortier, Frank Speleman, Ellen van Binsbergen, Marcel R. Nelen, Ron Hochstenbach, Martin Poot, Louise Gallagher, Michael Gill, Jon McClellan, Mary-Claire C. King, Regina Regan, Cindy Skinner, Roger E. Stevenson, Stylianos E. Antonarakis, Caifu Chen, Xavier Estivill, Björn Menten, Giorgio Gimelli, Susan Gribble, Stuart Schwartz, James S. Sutcliffe, Tom Walsh, Samantha J. Knight, Jonathan Sebat, Corrado Romano, Charles E. Schwartz, Joris A. Veltman, Bert B. de Vries, Joris R. Vermeesch, John C. Barber, Lionel Willatt, May Tassabehji, Evan E. Eichler
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