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SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome 期刊论文
NATURE GENETICS, 2017, 卷号: 49, 期号: 2, 页码: 238-248
作者:  Shaw, Natalie D.;  Brand, Harrison;  Kupchinsky, Zachary A.;  Bengani, Hemant;  Plummer, Lacey;  Jones, Takako I.;  Erdin, Serkan;  Williamson, Kathleen A.;  Rainger, Joe;  Stortchevoi, Alexei;  Samocha, Kaitlin;  Curra, Benjamin B.;  Dunican, Donncha S.;  Collins, Ryan L.;  Willer, Jason R.;  Lek, Angela;  Lek, Monkol;  Nassan, Malik;  Pereira, Shahrin;  Kammin, Tammy;  Lucente, Diane;  Silva, Alexandra;  Seabra, Catarina M.;  Chiang, Colby;  Ana, Yu;  Ansari, Morad;  Rainger, Jacqueline K.;  Joss, Shelagh;  Smith, Jill Clayton;  Lippincott, Margaret F.;  Singh, Sylvia S.;  Patel, Nirav;  Jing, Jenny W.;  Law, Jennifer R.;  Ferraro, Nalton;  Verloes, Main;  Rauch, Anita;  Steindl, Katharina;  Zweier, Markus;  Scheer, Ianina;  Sato, Daisuke;  Okamoto, Nobuhiko;  Jacobsen, Christina;  Tryggestad, Jeanie;  Chernausek, Steven;  Schimmenti, Lisa A.;  Brasseur, Benjamin;  Cesaretti, Claudia;  Garcia-Ortiz, Jose E.;  Pineda Buitrago, Tatiana;  Perez Silva, Orlando;  Hoffman, Jodi D.;  Muehlbauer, Wolfgang;  Ruprecht, Klaus W.;  Loeys, Bart L.;  Shino, Masato;  Kaind, Angela M.;  Cho, Chie-Hee;  Morton, Cynthia C.;  Meehan, Richard R.;  van Heyningen, Veronica;  Liao, Eric C.;  Balasubramanian, Ravikumar;  Hall, Janet E.;  Seminara, Stephanie B.;  Macarthur, Daniel;  Moore, Steven A.;  Yoshiura, Koh-ichiro;  Gusella, James F.;  Marsh, Joseph A.;  Graham, John M., Jr.;  Lin, Angela E.;  Katsanis, Nicholas;  Jones, Peter L.;  Crowley, William F., Jr.;  Davis, Erica E.;  FitzPatrick, David R.;  Talkowski, Michael E.
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Community for Data Integration 2016 annual report 科技报告
报告编号: 70187478, , 2017
作者:  Langseth, Madison L. mlangseth@usgs.gov;  Hsu, Leslie lhsu@usgs.gov;  Amberg, Jon J. jamberg@usgs.gov;  Bliss, Norman;  Bock, Andrew R. abock@usgs.gov;  Bolus, Rachel T. rbolus@usgs.gov;  Bristol, R. Sky;  Chase, Katherine J. kchase@usgs.gov;  Crimmins, Theresa M.;  Earle, Paul S. pearle@usgs.gov;  Erickson, Richard;  Everette, A. Lance;  Falgout, Jeff T. jfalgout@usgs.gov;  Faundeen, John L. faundeen@usgs.gov;  Fienen, Michael N. mnfienen@usgs.gov;  Griffin, Rusty;  Guy, Michelle R. mguy@usgs.gov;  Henry, Kevin D.;  Hoebelheinrich, Nancy J.;  Hunt, Randall J.;  Hutchison, Vivian B. vhutchison@usgs.gov;  Ignizio, Drew A. dignizio@usgs.gov;  Infante, Dana M.;  Jarnevich, Catherine;  Jones, Jeanne M. jmjones@usgs.gov;  Kern, Tim kernt@usgs.gov;  Leibowitz, Scott;  Lightsom, Francis L.;  Marsh, R. Lee;  McCalla, S. Grace smccalla@usgs.gov;  McNiff, Marcia mmcniff@usgs.gov;  Morisette, Jeffrey T. morisettej@usgs.gov;  Nelson, John C.;  Norkin, Tamar tnorkin@usgs.gov;  Preston, Todd M. tmpreston@usgs.gov;  Rosemartin, Alyssa;  Sando, Roy;  Sherba, Jason T. jsherba@usgs.gov;  Signell, Richard P. rsignell@usgs.gov;  Sleeter, Benjamin M. bsleeter@usgs.gov;  Sundquist, Eric T. esundqui@usgs.gov;  Talbert, Colin B. talbertc@usgs.gov;  Viger, Roland J.;  Weltzin, Jake F. jweltzin@usgs.gov;  Waltman, Sharon;  Weber, Marc;  Wieferich, Daniel J. dwieferich@usgs.gov;  Williams, Brad;  Windham-Myers, Lisamarie lwindham-myers@usgs.gov
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