Treffer 1 - 20 von 36 für Suche 'Rosario, L.M.', Suchdauer: 1,34s Treffer weiter einschränken
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    Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care von Maghiro, AudreyStephannie, Tabor, Holly K., Acosta, Maria T., Amendola, Laura, Andrews, Ashley, Balasubramanyam, Ashok, Baldridge, Dustin, Bennett, Jimmy, Berg-Rood, Beverly, Berry, Gerard T., Bican, Anna, Bohnsack, John, Boyd, Brenna, Burke, Elizabeth A., Byers, Peter, Peter Chang, Ta Chen, Chanprasert, Sirisak, Clark, Gary D., Cobban, Laurel A., Cogan, Joy D., Sessions Cole, F., Colley, Heather A., Cope, Heidi, D'Souza, Precilla, Dasari, Surendra, Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Earl, Dawn, Falk, Marni, Fieg, Elizabeth L., Fisher, Paul G., Gahl, William A., Goddard, Page C., Golden-Grant, Katie, Grajewski, Alana, Hahn, Sihoun, Hamid, Rizwan, Hassey, Kelly, Holm, Ingrid A., Hom, Jason, Introne, Wendy, Izumi, Kosuke, Jayadev, Suman, Kiley, Dana, Kobren, Shilpa N., Korrick, Susan, Krasnewich, Donna M., Lam, Christina, Lanza, Ian R., Lee, Brendan H., Loo, Sandra K., Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Manolio, Teri A., Marth, Gabor, McConkie-Rosell, Allyn, Mefford, Heather, Nickerson, Deborah, Nieves-Rodriguez, Shirley, Novacic, Donna, Oglesbee, Devin, Pace, Laura, Posey, Jennifer E., Potocki, Lorraine, Rao, Deepak A., Raskind, Wendy, Renteria, Genecee, Robertson, Amy K., Rossignol, Francis, Ruzhnikov, Maura, Scott, Daryl A., Shashi, Vandana, Shin, Jimann, Sisco, Kathy, Smith, Edward C., Solomon, Ben, Sullivan, Jennifer A., Sybert, Virginia, Tan, Amelia L.M., Tekin, Mustafa, Telischi, Fred, Toro, Camilo, Ungar, Rachel A., Vanderver, Adeline, Walker, Melissa, Walley, Nicole M., Wambach, Jennifer, Wan, Jijun, Wang, Lee-kai, Ward, Patricia A., Wegner, Daniel, Hubshman, Monika Weisz, Wener, Mark, Wenger, Tara, Westerfield, Monte, Worley, Kim, Xiao, Changrui, Yang, John

    Veröffentlicht in The Journal of pediatrics

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    Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis von Briere, Lauren C., Acosta, Maria T., Andrews, Ashley, Ashley, Euan A., Bacino, Carlos A., Bale, Jim, Barbouth, Deborah, Bennett, Jimmy, Bivona, Stephanie, Blue, Elizabeth, Burke, Elizabeth A., Byers, Peter, Peter Chang, Ta Chen, Chanprasert, Sirisak, Coakley, Terra R., Cogan, Joy D., Colley, Heather A., Cope, Heidi, Craigen, William J., Cunningham, Michael, Dasari, Surendra, Dell'Angelica, Esteban C., Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Doss, Argenia L., Douine, Emilie D., Earl, Dawn, Eng, Christine M., Fisher, Paul G., Gahl, William A., Glass, Ian, Gochuico, Bernadette, Hamid, Rizwan, Hayes, Nichole, Horike-Pyne, Martha, Isasi, Rosario, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Jobanputra, Vaidehi, Kiley, Dana, Kohler, Jennefer N., Korrick, Susan, Lalani, Seema R., Lam, Byron, Lanpher, Brendan C., LeBlanc, Kimberly, Levitt, Roy, Lewis, Richard A., Liu, Pengfei, Liu, Xue Zhong, Longo, Nicola, Maas, Richard L., Macnamara, Ellen F., Mao, Rong, Marom, Ronit, Martin, Beth A., Martin, Martin G., Martínez-Agosto, Julian A., Marwaha, Shruti, Miller, Danny, Morava, Eva, Moretti, Paolo, Novacic, Donna, Orengo, James P., Pallais, J. Carl, Phillips, John A., Posey, Jennifer E., Potocki, Lorraine, Raskind, Wendy, Robertson, Amy K., Rosenfeld, Jill A., Rossignol, Francis, Ruzhnikov, Maura, Schaechter, Judy, Sisco, Kathy, Solnica-Krezel, Lilianna, Solomon, Ben, Spillmann, Rebecca C., Stergachis, Andrew, Sullivan, Kathleen, Sweetser, David A., Sybert, Virginia, Tabor, Holly K., Tarakad, Arjun, Thorson, Willa, Vanderver, Adeline, Velinder, Matt, Walley, Nicole M., Wambach, Jennifer, Wan, Jijun, Ward, Patricia A., Wegner, Daniel, Hubshman, Monika Weisz, Wenger, Tara, Wheeler, Matthew T., Yang, John, Zhang, Zhe, Zuchner, Stephan

    Veröffentlicht in Genetics in medicine

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    De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features von Kanca, Oguz, Jangam, Sharayu, Tifft, Cynthia, Russell, Bianca E., Amendola, Laura, Andrews, Ashley, Ashley, Euan A., Bacino, Carlos A., Bademci, Guney, Baldridge, Dustin, Bale, Jim, Beck, Anita, Bennett, Jimmy, Bivona, Stephanie, Blue, Elizabeth, Boyd, Brenna, Briere, Lauren C., Burke, Elizabeth A., Burrage, Lindsay C., Byers, Peter, Carey, John, Cassini, Thomas, Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Coggins, Matthew, Colley, Heather A., Cooper, Cynthia M., Corona, Rosario, Crouse, Andrew B., Dai, Hongzheng, Davis, Joie, Dell'Angelica, Esteban C., Eckstein, David J., Emrick, Lisa T., Hadley, Don, Hamid, Rizwan, Hassey, Kelly, Hayes, Nichole, Horike-Pyne, Martha, Huang, Alden, Isasi, Rosario, Izumi, Kosuke, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Jobanputra, Vaidehi, Karaviti, Lefkothea, Kennedy, Jennifer, Kohler, Jennefer N., Korrick, Susan, Krakow, Deborah, Krasnewich, Donna M., Lanza, Ian R., Lee, Brendan H., Loo, Sandra K., MacRae, Calum A., Maghiro, AudreyStephannie, Marth, Gabor, McCauley, Jacob, McConkie-Rosell, Allyn, McCray, Alexa T., McGee, Elisabeth, Might, Matthew, Mirzaa, Ghayda, Mulvihill, John, Nicholas, Sarah K., Orengo, James P., Pak, Stephen, Pallais, J. Carl, Palmer, Christina G.S., Parker, Neil H., Pusey Swerdzewski, Barbara N., Quinlan, Aaron, Reuter, Chloe M., Rives, Lynette, Rossignol, Francis, Sacco, Ralph, Sampson, Jacinda B., Saporta, Mario, Schedl, Timothy, Shashi, Vandana, Shin, Jimann, Silverman, Edwin K., Solem, Emily, Solnica-Krezel, Lilianna, Solomon, Ben, Spillmann, Rebecca C., Sullivan, Kathleen, Sybert, Virginia, Tabor, Holly K., Vanderver, Adeline, Velinder, Matt, Walley, Nicole M., Wambach, Jennifer, Ward, Patricia A., Hubshman, Monika Weisz, Yamamoto, Shinya, Zhang, Zhe, Zuchner, Stephan

    Veröffentlicht in Genetics in medicine

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