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Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 05/2013, Volume 368, Issue 19, pp. 1809 - 1816
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 06/2016, Volume 98, Issue 6, p. 1256
  Curry-Jones syndrome (CJS) is a multisystem disorder characterized by patchy skin lesions, polysyndactyly, diverse cerebral malformations, unicoronal... 
Signal transduction | Genetic disorders | Biopsy | Mutation
Journal Article
Cell, ISSN 0092-8674, 09/2014, Volume 159, Issue 1, pp. 200 - 214
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 05/2014, Volume 94, Issue 5, pp. 734 - 744
Journal Article
Science, ISSN 0036-8075, 2/2008, Volume 319, Issue 5864, pp. 816 - 819
Journal Article
by Sodergren, Erica and Weinstock, George M and Davidson, Eric H and Cameron, R. Andrew and Gibbs, Richard A and Angerer, Robert C and Angerer, Lynne M and Arnone, Maria Ina and Burgess, David R and Burke, Robert D and Coffman, James A and Dean, Michael and Elphick, Maurice R and Ettensohn, Charles A and Foltz, Kathy R and Hamdoun, Amro and Hynes, Richard O and Klein, William H and Marzluff, William and McClay, David R and Morris, Robert L and Mushegian, Arcady and Rast, Jonathan P and Smith, L. Courtney and Thorndyke, Michael C and Vacquier, Victor D and Wessel, Gary M and Wray, Greg and Zhang, Lan and Elsik, Christine G and Ermolaeva, Olga and Hlavina, Wratko and Hofmann, Gretchen and Kitts, Paul and Landrum, Melissa J and Mackey, Aaron J and Maglott, Donna and Panopoulou, Georgia and Poustka, Albert J and Pruitt, Kim and Sapojnikov, Victor and Song, Xingzhi and Souvorov, Alexandre and Solovyev, Victor and Wei, Zheng and Whittaker, Charles A and Worley, Kim and Durbin, K. James and Shen, Yufeng and Fedrigo, Olivier and Garfield, David and Haygood, Ralph and Primus, Alexander and Satija, Rahul and Severson, Tonya and Gonzalez-Garay, Manuel L and Jackson, Andrew R and Milosavljevic, Aleksandar and Tong, Mark and Killian, Christopher E and Livingston, Brian T and Wilt, Fred H and Adams, Nikki and Bellé, Robert and Carbonneau, Seth and Cheung, Rocky and Cormier, Patrick and Cosson, Bertrand and Croce, Jenifer and Fernandez-Guerra, Antonio and Genevière, Anne-Marie and Goel, Manisha and Kelkar, Hemant and Morales, Julia and Mulner-Lorillon, Odile and Robertson, Anthony J and Goldstone, Jared V and Cole, Bryan and Epel, David and Gold, Bert and Hahn, Mark E and Howard-Ashby, Meredith and Scally, Mark and Stegeman, John J and Allgood, Erin L and Cool, Jonah and Judkins, Kyle M and McCafferty, Shawn S and Musante, Ashlan M and Obar, Robert A and Rawson, Amanda P and Rossetti, Blair J and Gibbons, Ian R and Hoffman, Matthew P and Leone, Andrew and Istrail, Sorin and Materna, Stefan C and Samanta, Manoj P and Stolc, Viktor and Tongprasit, Waraporn and ... and Sea Urchin Genome Sequencing Consortium and Medicinska fakulteten and Medicinska och farmaceutiska vetenskapsområdet and Medicinsk utvecklingsbiologi and Uppsala universitet and Institutionen för neurovetenskap
Science, ISSN 0036-8075, 11/2006, Volume 314, Issue 5801, pp. 941 - 952
Journal Article
Acta Neuropathologica, ISSN 0001-6322, 11/2017, Volume 134, Issue 5, pp. 705 - 714
Journal Article
Journal Article
Human mutation, ISSN 1059-7794, 2015, Volume 36, Issue 4, pp. 454 - 462
Journal Article