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	1.	Mutations in NOTCH2 in families with Hajdu-Cheney syndrome. [electronic resource] by Majewski, Jacek Schwartzentruber, Jeremy A Caqueret, Aurore Patry, Lysanne Marcadier, Janet Fryns, Jean-Pierre Boycott, Kym M Ste-Marie, Louis-Georges McKiernan, Fergus E Marik, Ivo Van Esch, Hilde Michaud, Jacques L Samuels, Mark E Producer: 20120117 In: Human mutation vol. 32 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project. [electronic resource] by Beaulieu, Chandree L Majewski, Jacek Schwartzentruber, Jeremy Samuels, Mark E Fernandez, Bridget A Bernier, Francois P Brudno, Michael Knoppers, Bartha Marcadier, Janet Dyment, David Adam, Shelin Bulman, Dennis E Jones, Steve J M Avard, Denise Nguyen, Minh Thu Rousseau, Francois Marshall, Christian Wintle, Richard F Shen, Yaoqing Scherer, Stephen W Friedman, Jan M Michaud, Jacques L Boycott, Kym M Producer: 20140729 In: American journal of human genetics vol. 94 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	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)
	4.	Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome. [electronic resource] by McDonell, Laura M Mirzaa, Ghayda M Alcantara, Diana Schwartzentruber, Jeremy Carter, Melissa T Lee, Leo J Clericuzio, Carol L Graham, John M Morris-Rosendahl, Deborah J Polster, Tilman Acsadi, Gyula Townshend, Sharron Williams, Simon Halbert, Anne Isidor, Bertrand David, Albert Smyser, Christopher D Paciorkowski, Alex R Willing, Marcia Woulfe, John Das, Soma Beaulieu, Chandree L Marcadier, Janet Geraghty, Michael T Frey, Brendan J Majewski, Jacek Bulman, Dennis E Dobyns, William B O'Driscoll, Mark Boycott, Kym M Producer: 20130618 In: Nature genetics vol. 45 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)