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	1.	Horizontal head titubation in infants with Joubert syndrome: a new finding. [electronic resource] by Poretti, Andrea Christen, Hans-Jürgen Elton, Lindsay E Baumgartner, Manuela Korenke, Georg Christoph Sukhudyan, Biayna Hethey, Sven Cross, Elizabeth Steinlin, Maja Boltshauser, Eugen Producer: 20141121 In: Developmental medicine and child neurology vol. 56 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits. [electronic resource] by Dittwald, Piotr Gambin, Tomasz Szafranski, Przemyslaw Li, Jian Amato, Stephen Divon, Michael Y Rodríguez Rojas, Lisa Ximena Elton, Lindsay E Scott, Daryl A Schaaf, Christian P Torres-Martinez, Wilfredo Stevens, Abby K Rosenfeld, Jill A Agadi, Satish Francis, David Kang, Sung-Hae L Breman, Amy Lalani, Seema R Bacino, Carlos A Bi, Weimin Milosavljevic, Aleksandar Beaudet, Arthur L Patel, Ankita Shaw, Chad A Lupski, James R Gambin, Anna Cheung, Sau Wai Stankiewicz, Pawel Producer: 20140311 In: Genome research vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Identification of novel candidate disease genes from de novo exonic copy number variants. [electronic resource] by Gambin, Tomasz Yuan, Bo Bi, Weimin Liu, Pengfei Rosenfeld, Jill A Coban-Akdemir, Zeynep Pursley, Amber N Nagamani, Sandesh C S Marom, Ronit Golla, Sailaja Dengle, Lauren Petrie, Heather G Matalon, Reuben Emrick, Lisa Proud, Monica B Treadwell-Deering, Diane Chao, Hsiao-Tuan Koillinen, Hannele Brown, Chester Urraca, Nora Mostafavi, Roya Bernes, Saunder Roeder, Elizabeth R Nugent, Kimberly M Bader, Patricia I Bellus, Gary Cummings, Michael Northrup, Hope Ashfaq, Myla Westman, Rachel Wildin, Robert Beck, Anita E Immken, LaDonna Elton, Lindsay Varghese, Shaun Buchanan, Edward Faivre, Laurence Lefebvre, Mathilde Schaaf, Christian P Walkiewicz, Magdalena Yang, Yaping Kang, Sung-Hae L Lalani, Seema R Bacino, Carlos A Beaudet, Arthur L Breman, Amy M Smith, Janice L Cheung, Sau Wai Lupski, James R Patel, Ankita Shaw, Chad A Stankiewicz, Paweł Producer: 20180618 In: Genome medicine vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)