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	21.	Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome. [electronic resource] by Hood, Rebecca L Lines, Matthew A Nikkel, Sarah M Schwartzentruber, Jeremy Beaulieu, Chandree Nowaczyk, Małgorzata J M Allanson, Judith Kim, Chong Ae Wieczorek, Dagmar Moilanen, Jukka S Lacombe, Didier Gillessen-Kaesbach, Gabriele Whiteford, Margo L Quaio, Caio Robledo D C Gomy, Israel Bertola, Debora R Albrecht, Beate Platzer, Konrad McGillivray, George Zou, Ruobing McLeod, D Ross Chudley, Albert E Chodirker, Bernard N Marcadier, Janet Majewski, Jacek Bulman, Dennis E White, Susan M Boycott, Kym M Producer: 20120619 In: American journal of human genetics vol. 90 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	22.	Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability. [electronic resource] by Bögershausen, Nina Shahrzad, Nassim Chong, Jessica X von Kleist-Retzow, Jürgen-Christoph Stanga, Daniela Li, Yun Bernier, Francois P Loucks, Catrina M Wirth, Radu Puffenberger, Eric G Hegele, Robert A Schreml, Julia Lapointe, Gabriel Keupp, Katharina Brett, Christopher L Anderson, Rebecca Hahn, Andreas Innes, A Micheil Suchowersky, Oksana Mets, Marilyn B Nürnberg, Gudrun McLeod, D Ross Thiele, Holger Waggoner, Darrel Altmüller, Janine Boycott, Kym M Schoser, Benedikt Nürnberg, Peter Ober, Carole Heller, Raoul Parboosingh, Jillian S Wollnik, Bernd Sacher, Michael Lamont, Ryan E Producer: 20130916 In: American journal of human genetics vol. 93 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	23.	Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia? [electronic resource] by Morimoto, Marie Yu, Zhongxin Stenzel, Peter Clewing, J Marietta Najafian, Behzad Mayfield, Christy Hendson, Glenda Weinkauf, Justin G Gormley, Andrew K Parham, David M Ponniah, Umakumaran André, Jean-Luc Asakura, Yumi Basiratnia, Mitra Bogdanović, Radovan Bokenkamp, Arend Bonneau, Dominique Buck, Anna Charrow, Joel Cochat, Pierre Cordeiro, Isabel Deschenes, Georges Fenkçi, M Semin Frange, Pierre Fründ, Stefan Fryssira, Helen Guillen-Navarro, Encarna Keller, Kory Kirmani, Salman Kobelka, Christine Lamfers, Petra Levtchenko, Elena Lewis, David B Massella, Laura McLeod, D Ross Milford, David V Nobili, François Saraiva, Jorge M Semerci, C Nur Shoemaker, Lawrence Stajić, Nataša Stein, Anja Taha, Doris Wand, Dorothea Zonana, Jonathan Lücke, Thomas Boerkoel, Cornelius F Producer: 20130410 In: Orphanet journal of rare diseases vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	24.	TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone. [electronic resource] by Huang, Lijia Szymanska, Katarzyna Jensen, Victor L Janecke, Andreas R Innes, A Micheil Davis, Erica E Frosk, Patrick Li, Chunmei Willer, Jason R Chodirker, Bernard N Greenberg, Cheryl R McLeod, D Ross Bernier, Francois P Chudley, Albert E Müller, Thomas Shboul, Mohammad Logan, Clare V Loucks, Catrina M Beaulieu, Chandree L Bowie, Rachel V Bell, Sandra M Adkins, Jonathan Zuniga, Freddi I Ross, Kevin D Wang, Jian Ban, Matthew R Becker, Christian Nürnberg, Peter Douglas, Stuart Craft, Cheryl M Akimenko, Marie-Andree Hegele, Robert A Ober, Carole Utermann, Gerd Bolz, Hanno J Bulman, Dennis E Katsanis, Nicholas Blacque, Oliver E Doherty, Dan Parboosingh, Jillian S Leroux, Michel R Johnson, Colin A Boycott, Kym M Producer: 20120202 In: American journal of human genetics vol. 89 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)