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	21.	Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome. [electronic resource] by Wangler, Michael F Gonzaga-Jauregui, Claudia Gambin, Tomasz Penney, Samantha Moss, Timothy Chopra, Atul Probst, Frank J Xia, Fan Yang, Yaping Werlin, Steven Eglite, Ieva Kornejeva, Liene Bacino, Carlos A Baldridge, Dustin Neul, Jeff Lehman, Efrat Lev Larson, Austin Beuten, Joke Muzny, Donna M Jhangiani, Shalini Gibbs, Richard A Lupski, James R Beaudet, Arthur Producer: 20141125 In: PLoS genetics vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	22.	Discovery of candidate disease genes in ENU-induced mouse mutants by large-scale sequencing, including a splice-site mutation in nucleoredoxin. [electronic resource] by Boles, Melissa K Wilkinson, Bonney M Wilming, Laurens G Liu, Bin Probst, Frank J Harrow, Jennifer Grafham, Darren Hentges, Kathryn E Woodward, Lanette P Maxwell, Andrea Mitchell, Karen Risley, Michael D Johnson, Randy Hirschi, Karen Lupski, James R Funato, Yosuke Miki, Hiroaki Marin-Garcia, Pablo Matthews, Lucy Coffey, Alison J Parker, Anne Hubbard, Tim J Rogers, Jane Bradley, Allan Adams, David J Justice, Monica J Producer: 20100402 In: PLoS genetics vol. 5 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	23.	Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. [electronic resource] by Shinawi, Marwan Liu, Pengfei Kang, Sung-Hae L Shen, Joseph Belmont, John W Scott, Daryl A Probst, Frank J Craigen, William J Graham, Brett H Pursley, Amber Clark, Gary Lee, Jennifer Proud, Monica Stocco, Amber Rodriguez, Diana L Kozel, Beth A Sparagana, Steven Roeder, Elizabeth R McGrew, Susan G Kurczynski, Thaddeus W Allison, Leslie J Amato, Stephen Savage, Sarah Patel, Ankita Stankiewicz, Pawel Beaudet, Arthur L Cheung, Sau Wai Lupski, James R Producer: 20100728 In: Journal of medical genetics vol. 47 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	24.	Mutation discovery in mice by whole exome sequencing. [electronic resource] by Fairfield, Heather Gilbert, Griffith J Barter, Mary Corrigan, Rebecca R Curtain, Michelle Ding, Yueming D'Ascenzo, Mark Gerhardt, Daniel J He, Chao Huang, Wenhui Richmond, Todd Rowe, Lucy Probst, Frank J Bergstrom, David E Murray, Stephen A Bult, Carol Richardson, Joel Kile, Benjamin T Gut, Ivo Hager, Jorg Sigurdsson, Snaevar Mauceli, Evan Di Palma, Federica Lindblad-Toh, Kerstin Cunningham, Michael L Cox, Timothy C Justice, Monica J Spector, Mona S Lowe, Scott W Albert, Thomas Donahue, Leah Rae Jeddeloh, Jeffrey Shendure, Jay Reinholdt, Laura G Producer: 20120823 In: Genome biology vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	25.	Detection of clinically relevant exonic copy-number changes by array CGH. [electronic resource] by Boone, Philip M Bacino, Carlos A Shaw, Chad A Eng, Patricia A Hixson, Patricia M Pursley, Amber N Kang, Sung-Hae L Yang, Yaping Wiszniewska, Joanna Nowakowska, Beata A del Gaudio, Daniela Xia, Zhilian Simpson-Patel, Gayle Immken, LaDonna L Gibson, James B Tsai, Anne C-H Bowers, Jennifer A Reimschisel, Tyler E Schaaf, Christian P Potocki, Lorraine Scaglia, Fernando Gambin, Tomasz Sykulski, Maciej Bartnik, Magdalena Derwinska, Katarzyna Wisniowiecka-Kowalnik, Barbara Lalani, Seema R Probst, Frank J Bi, Weimin Beaudet, Arthur L Patel, Ankita Lupski, James R Cheung, Sau Wai Stankiewicz, Pawel Producer: 20110302 In: Human mutation vol. 31 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	26.	Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies. [electronic resource] by Marttila, Minttu Lehtokari, Vilma-Lotta Marston, Steven Nyman, Tuula A Barnerias, Christine Beggs, Alan H Bertini, Enrico Ceyhan-Birsoy, Ozge Cintas, Pascal Gerard, Marion Gilbert-Dussardier, Brigitte Hogue, Jacob S Longman, Cheryl Eymard, Bruno Frydman, Moshe Kang, Peter B Klinge, Lars Kolski, Hanna Lochmüller, Hans Magy, Laurent Manel, Véronique Mayer, Michèle Mercuri, Eugenio North, Kathryn N Peudenier-Robert, Sylviane Pihko, Helena Probst, Frank J Reisin, Ricardo Stewart, Willie Taratuto, Ana Lia de Visser, Marianne Wilichowski, Ekkehard Winer, John Nowak, Kristen Laing, Nigel G Winder, Tom L Monnier, Nicole Clarke, Nigel F Pelin, Katarina Grönholm, Mikaela Wallgren-Pettersson, Carina Producer: 20150123 In: Human mutation vol. 35 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)