检索结果 - Quintana, Anita M
- Showing 1 - 17 results of 17
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Hcfc1b, a zebrafish ortholog of HCFC1, regulates craniofacial development by modulating mmachc expression 由 Quintana, Anita M., Geiger, Elizabeth A., Achilly, Nate, Rosenblatt, David S., Maclean, Kenneth N., Stabler, Sally P., Artinger, Kristin B., Appel, Bruce, Shaikh, Tamim H.
出版 2014Text -
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Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development 由 Van Laarhoven, Peter M., Neitzel, Leif R., Quintana, Anita M, Geiger, Elizabeth A., Zackai, Elaine H., Clouthier, David E., Artinger, Kristin B., Ming, Jeffrey E., Shaikh, Tamim H.
出版 2015Text -
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Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities 由 Quintana, Anita M., Yu, Hung-Chun, Brebner, Alison, Pupavac, Mihaela, Geiger, Elizabeth A., Watson, Abigail, Castro, Victoria L., Cheung, Warren, Chen, Shu-Huang, Watkins, David, Pastinen, Tomi, Skovby, Flemming, Appel, Bruce, Rosenblatt, David S., Shaikh, Tamim H.
出版 2017Text -
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An X-Linked Cobalamin Disorder Caused by Mutations in Transcriptional Coregulator HCFC1 由 Yu, Hung-Chun, Sloan, Jennifer L., Scharer, Gunter, Brebner, Alison, Quintana, Anita M., Achilly, Nathan P., Manoli, Irini, Coughlin, Curtis R., Geiger, Elizabeth A., Schneck, Una, Watkins, David, Suormala, Terttu, Van Hove, Johan L.K., Fowler, Brian, Baumgartner, Matthias R., Rosenblatt, David S., Venditti, Charles P., Shaikh, Tamim H.
出版 2013Text