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	1.	A novel GJA1 mutation causing familial oculodentodigital dysplasia with dilated cardiomyopathy and arrhythmia. [electronic resource] by Wittlieb-Weber, Carol A Haude, Katrina M Fong, Chin-To Vinocur, Jeffrey M Publication details: HeartRhythm case reports Jan 2016 In: HeartRhythm case reports vol. 2 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism. [electronic resource] by Shang, Linshan Henderson, Lindsay B Cho, Megan T Petrey, Donald S Fong, Chin-To Haude, Katrina M Shur, Natasha Lundberg, Julie Hauser, Natalie Carmichael, Jason Innis, Jeffrey Schuette, Jane Wu, Yvonne W Asaikar, Shailesh Pearson, Margaret Folk, Leandra Retterer, Kyle Monaghan, Kristin G Chung, Wendy K Producer: 20161019 In: Neurogenetics vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling. [electronic resource] by Snijders Blok, Lot Madsen, Erik Juusola, Jane Gilissen, Christian Baralle, Diana Reijnders, Margot R F Venselaar, Hanka Helsmoortel, Céline Cho, Megan T Hoischen, Alexander Vissers, Lisenka E L M Koemans, Tom S Wissink-Lindhout, Willemijn Eichler, Evan E Romano, Corrado Van Esch, Hilde Stumpel, Connie Vreeburg, Maaike Smeets, Eric Oberndorff, Karin van Bon, Bregje W M Shaw, Marie Gecz, Jozef Haan, Eric Bienek, Melanie Jensen, Corinna Loeys, Bart L Van Dijck, Anke Innes, A Micheil Racher, Hilary Vermeer, Sascha Di Donato, Nataliya Rump, Andreas Tatton-Brown, Katrina Parker, Michael J Henderson, Alex Lynch, Sally A Fryer, Alan Ross, Alison Vasudevan, Pradeep Kini, Usha Newbury-Ecob, Ruth Chandler, Kate Male, Alison Dijkstra, Sybe Schieving, Jolanda Giltay, Jacques van Gassen, Koen L I Schuurs-Hoeijmakers, Janneke Tan, Perciliz L Pediaditakis, Igor Haas, Stefan A Retterer, Kyle Reed, Patrick Monaghan, Kristin G Haverfield, Eden Natowicz, Marvin Myers, Angela Kruer, Michael C Stein, Quinn Strauss, Kevin A Brigatti, Karlla W Keating, Katherine Burton, Barbara K Kim, Katherine H Charrow, Joel Norman, Jennifer Foster-Barber, Audrey Kline, Antonie D Kimball, Amy Zackai, Elaine Harr, Margaret Fox, Joyce McLaughlin, Julie Lindstrom, Kristin Haude, Katrina M van Roozendaal, Kees Brunner, Han Chung, Wendy K Kooy, R Frank Pfundt, Rolph Kalscheuer, Vera Mehta, Sarju G Katsanis, Nicholas Kleefstra, Tjitske Producer: 20151029 In: American journal of human genetics vol. 97 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)