Search Results - 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 by 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.
Published 2014Text -
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Agammaglobulinemia and absent B lineage cells in a patient lacking the p85α subunit of PI3K by Conley, Mary Ellen, Dobbs, A. Kerry, Quintana, Anita M., Bosompem, Amma, Wang, Yong-Dong, Coustan-Smith, Elaine, Smith, Amber M., Perez, Elena E., Murray, Peter J.
Published 2012Text -
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Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development by 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.
Published 2015Text -
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Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities by 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.
Published 2017Text -
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An X-Linked Cobalamin Disorder Caused by Mutations in Transcriptional Coregulator HCFC1 by 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.
Published 2013Text