Search Results - Sund, Kristen L.
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A mutation in FRIZZLED2 impairs Wnt signaling and causes autosomal dominant omodysplasia by Saal, Howard M., Prows, Cynthia A., Guerreiro, Iris, Donlin, Milene, Knudson, Luke, Sund, Kristen L., Chang, Ching-Fang, Brugmann, Samantha A., Stottmann, Rolf W.
Published 2015Text -
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Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction by Weaver, K. Nicole, Watt, Kristin E. Noack, Hufnagel, Robert B., Navajas Acedo, Joaquin, Linscott, Luke L., Sund, Kristen L., Bender, Patricia L., König, Rainer, Lourenco, Charles M., Hehr, Ute, Hopkin, Robert J., Lohmann, Dietmar R., Trainor, Paul A., Wieczorek, Dagmar, Saal, Howard M.
Published 2015Text -
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The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system by Mandl, Kenneth D., Glauser, Tracy, Krantz, Ian D., Avillach, Paul, Bartels, Anna, Beggs, Alan H., Biswas, Sawona, Bourgeois, Florence T., Corsmo, Jeremy, Dauber, Andrew, Devkota, Batsal, Fleisher, Gary R., Heath, Allison P., Helbig, Ingo, Hirschhorn, Joel N., Kilbourn, Judson, Kong, Sek Won, Kornetsky, Susan, Majzoub, Joseph A., Marsolo, Keith, Martin, Lisa J., Nix, Jeremy, Schwarzhoff, Amy, Stedman, Jason, Strauss, Arnold, Sund, Kristen L., Taylor, Deanne M., White, Peter S., Marsh, Eric, Grimberg, Adda, Hawkes, Colin
Published 2019Text -
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Correction: The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system by Mandl, Kenneth D., Glauser, Tracy, Krantz, Ian D., Avillach, Paul, Bartels, Anna, Beggs, Alan H., Biswas, Sawona, Bourgeois, Florence T., Corsmo, Jeremy, Dauber, Andrew, Devkota, Batsal, Fleisher, Gary R., Heath, Allison P., Helbig, Ingo, Hirschhorn, Joel N., Kilbourn, Judson, Kong, Sek Won, Kornetsky, Susan, Majzoub, Joseph A., Marsolo, Keith, Martin, Lisa J., Nix, Jeremy, Schwarzhoff, Amy, Stedman, Jason, Strauss, Arnold, Sund, Kristen L., Taylor, Deanne M., White, Peter S., Marsh, Eric, Grimberg, Adda, Hawkes, Colin
Published 2019Text -
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Mutations in the UGO1-like protein SLC25A46 cause an optic atrophy spectrum disorder by Abrams, Alexander J., Hufnagel, Robert B., Rebelo, Adriana, Zanna, Claudia, Patel, Neville, Gonzalez, Michael A., Campeanu, Ion J., Griffin, Laurie B., Groenewald, Saskia, Strickland, Alleene V., Tao, Feifei, Speziani, Fiorella, Abreu, Lisa, Schüle, Rebecca, Caporali, Leonardo, La Morgia, Chiara, Maresca, Alessandra, Liguori, Rocco, Lodi, Raffaele, Ahmed, Zubair M., Sund, Kristen L., Wang, Xinjian, Krueger, Laura A., Peng, Yanyan, Prada, Carlos E., Prows, Cynthia A., Bove, Kevin, Schorry, Elizabeth K., Antonellis, Anthony, Zimmerman, Holly H., Abdul-Rahman, Omar A., Yang, Yaping, Downes, Susan M., Prince, Jeffery, Fontanesi, Flavia, Barrientos, Antonio, Nemeth, Andrea H., Carelli, Valerio, Huang, Taosheng, Zuchner, Stephan, Dallman, Julia E.
Published 2015Text