학술논문
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Academic Journal
Kirby, Andrew; Gnirke, Andreas; Jaffe, David B; Barešová, Veronika; Pochet, Nathalie; Blumenstiel, Brendan; Ye, Chun; Aird, Daniel; Stevens, Christine; Robinson, James T; Cabili, Moran N; Gat-Viks, Irit; Kelliher, Edward; Daza, Riza; DeFelice, Matthew; Hůlková, Helena; Sovová, Jana; Vylet'al, Petr; Antignac, Corinne; Guttman, Mitchell; Handsaker, Robert E; Perrin, Danielle; Steelman, Scott; Sigurdsson, Snaevar; Scheinman, Steven J; Sougnez, Carrie; Cibulskis, Kristian; Parkin, Melissa; Green, Todd; Rossin, Elizabeth; Zody, Michael C; Xavier, Ramnik J; Pollak, Martin R; Alper, Seth L; Lindblad-Toh, Kerstin; Gabriel, Stacey; Hart, P Suzanne; Regev, Aviv; Nusbaum, Chad; Kmoch, Stanislav; Bleyer, Anthony J; Lander, Eric S; Daly, Mark J
Nature Genetics. 45(3)
Academic Journal
Kirby, Andrew; Gnirke, Andreas; Jaffe, David B.; Barešová, Veronika; Pochet, Nathalie; Blumenstiel, Brendan; Ye, Chun; Aird, Daniel; Stevens, Christine; Robinson, James T.; Cabili, Moran N.; Gat-Viks, Irit; Kelliher, Edward; Daza, Riza; DeFelice, Matthew; Hůlková, Helena; Sovová, Jana; Vylet’al, Petr; Antignac, Corinne; Guttman, Mitchell; Handsaker, Robert E.; Perrin, Danielle; Steelman, Scott; Sigurdsson, Snaevar; Scheinman, Steven J.; Sougnez, Carrie; Cibulskis, Kristian; Parkin, Melissa; Green, Todd; Rossin, Elizabeth; Zody, Michael C.; Xavier, Ramnik J.; Pollak, Martin R.; Alper, Seth L.; Lindblad-Toh, Kerstin; Gabriel, Stacey; Hart, P. Suzanne; Regev, Aviv; Nusbaum, Chad; Kmoch, Stanislav; Bleyer, Anthony J.; Lander, Eric S.; Daly, Mark J.
Kirby, A., A. Gnirke, D. B. Jaffe, V. Barešová, N. Pochet, B. Blumenstiel, C. Ye, et al. 2014. “Mutations causing medullary cystic kidney disease type 1 (MCKD1) lie in a large VNTR in MUC1 missed by massively parallel sequencing.” Nature genetics 45 (3): 299-303. doi:10.1038/ng.2543. http://dx.doi.org/10.1038/ng.2543.
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[AR] Kelliher, Edward
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