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by Mefford, Heather C and Sharp, Andrew J and Baker, Carl and Itsara, Andy and Jiang, Zhaoshi and Buysse, Karen and Huang, Shuwen and Maloney, Viv K and Crolla, John A and Baralle, Diana and Collins, Amanda and Mercer, Catherine and Norga, Koen and de Ravel, Thomy and Devriendt, Koen and Bongers, Ernie M.H.F and de Leeuw, Nicole and Reardon, William and Gimelli, Giorgio and Gimelli, Stefania and Bena, Frederique and Hennekam, Raoul C and Male, Alison and Gaunt, Lorraine and Clayton-Smith, Jill and Simonic, Ingrid and Park, Soo Mi and Mehta, Sarju G and Nik-Zainal, Serena and Woods, C. Geoffrey and Firth, Helen V and Parkin, Georgina and Fichera, Marco and Reitano, Santina and Giudice, Mariangela Lo and Li, Kelly E and Casuga, Iris and Broomer, Adam and Conrad, Bernard and Schwerzmann, Markus and Räber, Lorenz and Gallati, Sabina and Striano, Pasquale and Coppola, Antonietta and Tolmie, John L and Tobias, Edward S and Lilley, Chris and Armengol, Lluis and Spysschaert, Yves and Verloo, Patrick and De Coene, Anja and Goossens, Linde and Mortier, Geert and Speleman, Frank and van Binsbergen, Ellen and Nelen, Marcel R and Hochstenbach, Ron and Poot, Martin and Gallagher, Louise and Gill, Michael and McClellan, Jon and King, Mary-Claire and Regan, Regina and Skinner, Cindy and Stevenson, Roger E and Antonarakis, Stylianos E and Chen, Caifu and Estivill, Xavier and Menten, Björn and Gribble, Susan and Schwartz, Charles E and Schwartz, Stuart and Sutcliffe, James S and Walsh, Tom and Knight, Samantha J.L and Sebat, Jonathan and Romano, Corrado and Veltman, Joris A and de Vries, Bert B.A and Vermeesch, Joris R and Barber, John C.K and Willatt, Lionel and Tassabehji, May and Eichler, Evan E
The New England Journal of Medicine, ISSN 0028-4793, 10/2008, Volume 359, Issue 16, pp. 1685 - 1699
This study shows an association between a broad range of phenotypes and either deletion or duplication of a genomic segment at chromosome 1q21.1, suggesting a... 
Genotype & phenotype | Pediatrics | Pathology | Molecular biology | Chromosomes
Journal Article
Nucleic Acids Research, ISSN 0305-1048, 2008, Volume 36, Issue suppl_1, pp. D402 - D408
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Nature Genetics, ISSN 1061-4036, 2014, Volume 46, Issue 5, pp. 503 - 509
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by Rice, Gillian and Patrick, Teresa and Parmar, Rekha and Taylor, Claire F and Aeby, Alec and Aicardi, Jean and Artuch, Rafael and Montalto, Simon Attard and Bacino, Carlos A and Barroso, Bruno and Baxter, Peter and Benko, Willam S and Bergmann, Carsten and Bertini, Enrico and Biancheri, Roberta and Blair, Edward M and Blau, Nenad and Bonthron, David T and Briggs, Tracy and Brueton, Louise A and Brunner, Han G and Burke, Christopher J and Carr, Ian M and Carvalho, Daniel R and Chandler, Kate E and Christen, Hans-Jürgen and Corry, Peter C and Cowan, Frances M and Cox, Helen and D’Arrigo, Stefano and Dean, John and De Laet, Corinne and De Praeter, Claudine and Déry, Catherine and Ferrie, Colin D and Flintoff, Kim and Frints, Suzanna G.M and Garcia-Cazorla, Angels and Gener, Blanca and Goizet, Cyril and Goutières, Françoise and Green, Andrew J and Guët, Agnès and Hamel, Ben C.J and Hayward, Bruce E and Heiberg, Arvid and Hennekam, Raoul C and Husson, Marie and Jackson, Andrew P and Jayatunga, Rasieka and Jiang, Yong-Hui and Kant, Sarina G and Kao, Amy and King, Mary D and Kingston, Helen M and Klepper, Joerg and van der Knaap, Marjo S and Kornberg, Andrew J and Kotzot, Dieter and Kratzer, Wilfried and Lacombe, Didier and Lagae, Lieven and Landrieu, Pierre Georges and Lanzi, Giovanni and Leitch, Andrea and Lim, Ming J and Livingston, John H and Lourenco, Charles M and Lyall, E. G. Hermione and Lynch, Sally A and Lyons, Michael J and Marom, Daphna and McClure, John P and McWilliam, Robert and Melancon, Serge B and Mewasingh, Leena D and Moutard, Marie-Laure and Nischal, Ken K and Østergaard, John R and Prendiville, Julie and Rasmussen, Magnhild and Rogers, R. Curtis and Roland, Dominique and Rosser, Elisabeth M and Rostasy, Kevin and Roubertie, Agathe and Sanchis, Amparo and Schiffmann, Raphael and Scholl-Bürgi, Sabine and Seal, Sunita and Shalev, Stavit A and Corcoles, C. Sierra and Sinha, Gyan P and Soler, Doriette and Spiegel, Ronen and Stephenson, John B.P and Tacke, Uta and Tan, Tiong Yang and Till, Marianne and Tolmie, John L and ...
The American Journal of Human Genetics, ISSN 0002-9297, 2007, Volume 81, Issue 4, pp. 713 - 725
Journal Article
by Mefford, Heather C and Sharp, Anew J and Baker, Carl and Itsara, Andy and Jiang, Zhaoshi and Buysse, Karen and Huang, Shuwen and Maloney, Viv K and Crolla, John A and Baralle, Diana and Collins, Amanda and Mercer, Catherine and Norga, Koen and de Ravel, Thomy and Devriendt, Koen and Bongers, Ernie M. H. F and de Leeuw, Nicole and Reardon, William and Gimelli, Stefania and Bena, Frederique and Hennekam, Raoul C and Male, Alison and Gaunt, Lorraine and Clayton-Smith, Jill and Simonic, Ingrid and Park, Soo Mi and Mehta, Sarju G and Nik-Zainal, Serena and Woods, C. Geoffrey and Firth, Helen V and Parkin, Georgina and Fichera, Marco and Reitano, Santina and Lo Giudice, Mariangela and Li, Kelly E and Casuga, Iris and Broomer, Adam and Conrad, Bernard and Schwerzmann, Markus and Raber, Lorenz and Gallati, Sabina and Striano, Pasquale and Coppola, Antonietta and Tolmie, John L and Tobias, Edward S and Lilley, Chris and Armengol, Lluis and Spysschaert, Yves and Verloo, Patrick and de Coene, Anja and Goossens, Linde and Mortier, Geert and Speleman, Frank and van Binsbergen, Ellen and Nelen, Marcel R and Hochstenbach, Ron and Poot, Martin and Gallagher, Louise and Gill, Michael and McClellan, Jon and King, Mary-Claire and Regan, Regina and Skinner, Cindy and Stevenson, Roger E and Antonarakis, Stylianos E and Chen, Caifu and Estivill, Xavier and Menten, Bjorn and Gimelli, Giorgio and Gribble, Susan and Schwartz, Stuart and Sutcliffe, James S and Walsh, Tom and Knight, Samantha J. L and Sebat, Jonathan and Romano, Corrado and Schwartz, Charles E and Veltman, Joris A and de Vries, Bert B. A and Vermeesch, Joris R and Barber, John C. K and Willatt, Lionel and Tassabehji, May and Eichler, Evan E
New England journal of medicine, ISSN 0028-4793, 2008, Volume 359, Issue 16, pp. 1685 - U130
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by Anderson, Beverley H and Kasher, Paul R and Mayer, Josephine and Szynkiewicz, Marcin and Jenkinson, Emma M and Bhaskar, Sanjeev S and Urquhart, Jill E and Daly, Sarah B and Dickerson, Jonathan E and O'Sullivan, James and Leibundgut, Elisabeth Oppliger and Muter, Joanne and Abdel-Salem, Ghada M. H and Babul-Hirji, Riyana and Baxter, Peter and Berger, Anea and Bonafé, Luisa and Brunstom-Hernandez, Janice E and Buckard, Johannes A and Chitayat, David and Chong, Wui K and Cordelli, Duccio M and Ferreira, Patrick and Fluss, Joel and Forrest, Ewan H and Franzoni, Emilio and Garone, Caterina and Hammans, Simon R and Houge, Gunnar and Hughes, Imelda and Jacquemont, Sebastien and Jeannet, Pierre-Yves and Jefferson, Rosalind J and Kumar, Ram and Kutschke, Georg and Lundberg, Staffan and Lourenço, Charles M and Mehta, Ramesh and Naidu, Sakkubai and Nischal, Ken K and Nunes, Luís and Ounap, Katrin and Philippart, Michel and Prabhakar, Prab and Risen, Sarah R and Schiffmann, Raphael and Soh, Calvin and Stephenson, John B. P and Stewart, Helen and Stone, Jon and Tolmie, John L and van der Knaap, Marjo S and Vieira, Jose P and Vilain, Catheline N and Wakeling, Emma L and Wermenbol, Vanessa and Whitney, Anea and Lovell, Simon C and Meyer, Stefan and Livingston, John H and Baerlocher, Gabriela M and Black, Graeme C. M and Rice, Gillian I and Crow, Yanick J and Medicinska fakulteten and Medicinska och farmaceutiska vetenskapsområdet and Institutionen för kvinnors och barns hälsa and Uppsala universitet
Nature genetics, ISSN 1061-4036, 2012, Volume 44, Issue 3, pp. 338 - 342
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Nature Genetics, ISSN 1061-4036, 2009, Volume 41, Issue 5, pp. 535 - 543
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Nature Genetics, ISSN 1061-4036, 08/2006, Volume 38, Issue 8, pp. 910 - 916
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Journal of Clinical Investigation, ISSN 0021-9738, 01/2015, Volume 125, Issue 8, pp. 3051 - 3062
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Human Molecular Genetics, ISSN 0964-6906, 1999, Volume 8, Issue 8, pp. 1461 - 1472
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