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3by Fahad Mahmood, Monika Mozere, Anselm A. Zdebik, Horia C. Stanescu, Jonathan Tobin, Philip L. Beales, Robert Kleta, Detlef Bockenhauer, Claire RussellGet full text
Published 2013-05-01
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5by Daniel P S Osborn, Rosa Maria Roccasecca, Fiona McMurray, Victor Hernandez-Hernandez, Sriparna Mukherjee, Inês Barroso, Derek Stemple, Roger Cox, Philip L Beales, Sonia Christou-SavinaGet full text
Published 2014-01-01
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6by Mustafa M Munye, Anna Diaz-Font, Louise Ocaka, Maiken L Henriksen, Melissa Lees, Angela Brady, Dagan Jenkins, Jenny Morton, Soren W Hansen, Chiara Bacchelli, Philip L Beales, Victor Hernandez-HernandezGet full text
Published 2017-03-01
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7by Christopher J. M. Piper, Meredyth G. Ll. Wilkinson, Meredyth G. Ll. Wilkinson, Claire T. Deakin, Claire T. Deakin, Claire T. Deakin, Georg W. Otto, Georg W. Otto, Stefanie Dowle, Stefanie Dowle, Chantal L. Duurland, Stuart Adams, Emiliano Marasco, Elizabeth C. Rosser, Anna Radziszewska, Anna Radziszewska, Rita Carsetti, Yiannis Ioannou, Yiannis Ioannou, Philip L. Beales, Philip L. Beales, Daniel Kelberman, Daniel Kelberman, David A. Isenberg, David A. Isenberg, Claudia Mauri, Kiran Nistala, Lucy R. Wedderburn, Lucy R. Wedderburn, Lucy R. WedderburnGet full text
Published 2018-06-01
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8Correction: Loss of Bardet-Biedl syndrome proteins causes synaptic aberrations in principal neurons.by Naila Haq, Christoph Schmidt-Hieber, Fernando J Sialana, Lorenza Ciani, Janosch P Heller, Michelle Stewart, Liz Bentley, Sara Wells, Richard J Rodenburg, Patrick M Nolan, Elizabeth Forsythe, Michael C Wu, Gert Lubec, Patricia C Salinas, Michael Häusser, Philip L Beales, Sofia Christou-SavinaGet full text
Published 2019-10-01
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9by Naila Haq, Christoph Schmidt-Hieber, Fernando J Sialana, Lorenza Ciani, Janosch P Heller, Michelle Stewart, Liz Bentley, Sara Wells, Richard J Rodenburg, Patrick M Nolan, Elizabeth Forsythe, Michael C Wu, Gert Lubec, P Salinas, Michael Häusser, Philip L Beales, Sofia Christou-SavinaGet full text
Published 2019-09-01
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10by Miriam Schmidts, Yuqing Hou, Claudio R. Cortés, Dorus A. Mans, Celine Huber, Karsten Boldt, Mitali Patel, Jeroen van Reeuwijk, Jean-Marc Plaza, Sylvia E. C. van Beersum, Zhi Min Yap, Stef J. F. Letteboer, S. Paige Taylor, Warren Herridge, Colin A. Johnson, Peter J. Scambler, Marius Ueffing, Hulya Kayserili, Deborah Krakow, Stephen M. King, UK10K, Philip L. Beales, Lihadh Al-Gazali, Carol Wicking, Valerie Cormier-Daire, Ronald Roepman, Hannah M. Mitchison, George B. WitmanGet full text
Published 2016-03-01
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11by Teunis J P van Dam, Julie Kennedy, Robin van der Lee, Erik de Vrieze, Kirsten A Wunderlich, Suzanne Rix, Gerard W Dougherty, Nils J Lambacher, Chunmei Li, Victor L Jensen, Michel R Leroux, Rim Hjeij, Nicola Horn, Yves Texier, Yasmin Wissinger, Jeroen van Reeuwijk, Gabrielle Wheway, Barbara Knapp, Jan F Scheel, Brunella Franco, Dorus A Mans, Erwin van Wijk, François Képès, Gisela G Slaats, Grischa Toedt, Hannie Kremer, Heymut Omran, Katarzyna Szymanska, Konstantinos Koutroumpas, Marius Ueffing, Thanh-Minh T Nguyen, Stef J F Letteboer, Machteld M Oud, Sylvia E C van Beersum, Miriam Schmidts, Philip L Beales, Qianhao Lu, Rachel H Giles, Radek Szklarczyk, Robert B Russell, Robert B Russell, Toby J Gibson, Colin A Johnson, Oliver E Blacque, Uwe Wolfrum, Karsten Boldt, Ronald Roepman, Victor Hernandez-Hernandez, Martijn A HuynenGet full text
Published 2019-01-01
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12by Morad Ansari, Jacqueline Rainger, Isabel M Hanson, Kathleen A Williamson, Freddie Sharkey, Louise Harewood, Angela Sandilands, Jill Clayton-Smith, Helene Dollfus, Pierre Bitoun, Francoise Meire, Judy Fantes, Brunella Franco, Birgit Lorenz, David S Taylor, Fiona Stewart, Colin E Willoughby, Meriel McEntagart, Peng Tee Khaw, Carol Clericuzio, Lionel Van Maldergem, Denise Williams, Ruth Newbury-Ecob, Elias I Traboulsi, Eduardo D Silva, Mukhlis M Madlom, David R Goudie, Brian W Fleck, Dagmar Wieczorek, Juergen Kohlhase, Alice D McTrusty, Carol Gardiner, Christopher Yale, Anthony T Moore, Isabelle Russell-Eggitt, Lily Islam, Melissa Lees, Philip L Beales, Stephen J Tuft, Juan B Solano, Miranda Splitt, Jens Michael Hertz, Trine E Prescott, Deborah J Shears, Ken K Nischal, Martine Doco-Fenzy, Fabienne Prieur, I Karen Temple, Katherine L Lachlan, Giuseppe Damante, Danny A Morrison, Veronica van Heyningen, David R FitzPatrickGet full text
Published 2016-01-01
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13by Karsten Boldt, Jeroen van Reeuwijk, Qianhao Lu, Konstantinos Koutroumpas, Thanh-Minh T. Nguyen, Yves Texier, Sylvia E. C. van Beersum, Nicola Horn, Jason R. Willer, Dorus A. Mans, Gerard Dougherty, Ideke J. C. Lamers, Karlien L. M. Coene, Heleen H. Arts, Matthew J. Betts, Tina Beyer, Emine Bolat, Christian Johannes Gloeckner, Khatera Haidari, Lisette Hetterschijt, Daniela Iaconis, Dagan Jenkins, Franziska Klose, Barbara Knapp, Brooke Latour, Stef J. F. Letteboer, Carlo L. Marcelis, Dragana Mitic, Manuela Morleo, Machteld M. Oud, Moniek Riemersma, Susan Rix, Paulien A. Terhal, Grischa Toedt, Teunis J. P. van Dam, Erik de Vrieze, Yasmin Wissinger, Ka Man Wu, Gordana Apic, Philip L. Beales, Oliver E. Blacque, Toby J. Gibson, Martijn A. Huynen, Nicholas Katsanis, Hannie Kremer, Heymut Omran, Erwin van Wijk, Uwe Wolfrum, François Kepes, Erica E. Davis, Brunella Franco, Rachel H. Giles, Marius Ueffing, Robert B. Russell, Ronald Roepman, UK10K Rare Diseases GroupGet full text
Published 2016-05-01
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