Treffer 1 - 20 von 41 für Suche 'UNGAR, Stephen G', Suchdauer: 1,32s 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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    Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder von Ugur, Berrak, Zhang, Bo, Feng, Wenjia, Goddard, Pagé, Kravets, Elijah, Marwaha, Shruti, Adams, David R., Andrews, Ashley, Behrens, Edward, Berg-Rood, Beverly, Berry, Gerard T., Bohnsack, John, Botto, Lorenzo, Boyd, Brenna, Briere, Lauren C., Carrasquillo, Olveen, Chanprasert, Sirisak, Chinn, Ivan, Coggins, Matthew, Sessions Cole, F., Cope, Heidi, Dasari, Surendra, Dayal, Jyoti G., Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Doss, Argenia L., Earl, Dawn, Ezell, Kimberly, Fisher, Paul G., Gahl, William A., Glass, Ian, Goddard, Page C., Halley, Meghan C., High, Frances, Hisama, Fuki M., Holm, Ingrid A., Hutchison, Sarah, Isasi, Rosario, Izumi, Kosuke, Jarvik, Gail P., Ketkar, Shamika, Kohane, Isaac S., Kohler, Jennefer N., Kozuira, Mary, Lalani, Seema R., Lam, Byron, Lam, Christina, Lanpher, Brendan C., Levitt, Roy, Lewis, Richard A., Liu, Pengfei, Liu, Xue Zhong, Longo, Nicola, Maas, Richard L., Manolio, Teri A., Mao, Rong, Marom, Ronit, Martin, Beth A., Marwaha, Shruti, McCauley, Jacob, McCray, Alexa T., Mefford, Heather, Morava, Eva, Moretti, Paolo, Nakano-Okuno, Mariko, Nelson, Stanley F., Neumann, Serena, Nickerson, Deborah, Palmer, Christina G.S., Parker, Neil H., Phillips, John A., Pusey Swerdzewski, Barbara N., Renteria, Genecee, Rosenfeld, Jill A., Sacco, Ralph, Schoch, Kelly, Shin, Jimann, Silverman, Edwin K., Sisco, Kathy, Smith, Edward C., Solomon, Ben, Sweetser, David A., Tran, Alyssa A., Velinder, Matt, Walley, Nicole M., Wambach, Jennifer, Wan, Jijun, Ward, Patricia A., Wegner, Daniel, Hubshman, Monika Weisz, Wener, Mark, Wenger, Tara, Worley, Kim, Xiao, Changrui, Yang, John, Zuchner, Stephan, Worthey, Elizabeth A., Postlethwait, John, Solnica-Krezel, Lila

    Veröffentlicht in Genetics in medicine

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    Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly von Wan, Jijun, Adams, David R., Balasubramanyam, Ashok, Bamshad, Michael, Beck, Anita, Behrens, Edward, Bejerano, Gill, Bellen, Hugo J., Bernstein, Jonathan A., Bonner, Devon, Burke, Elizabeth A., Burrage, Lindsay C., Byers, Peter, Carey, John, Cassini, Thomas, Chao, Hsiao-Tuan, Chinn, Ivan, Cogan, Joy D., Coggins, Matthew, Cole, F. Sessions, Dai, Hongzheng, Davis, Joie, Douine, Emilie D., Eckstein, David J., Emrick, Lisa T., Hadley, Don, Halley, Meghan C., Hassey, Kelly, High, Frances, Hing, Anne, Hisama, Fuki M., Hutchison, Sarah, Jean-Marie, Orpa, Kaitryn, Emerald, Kilich, Gonench, Kobren, Shilpa N., Krakow, Deborah, Krasnewich, Donna M., Kravets, Elijah, Lanza, Ian R., LeBlanc, Kimberly, Lee, Brendan H., Loo, Sandra K., MacRae, Calum A., Mahoney, Rachel, Malicdan, May Christine V., Mamounas, Laura A., Marth, Gabor, McCauley, Jacob, McConkie-Rosell, Allyn, McCray, Alexa T., Novacic, Donna, Oglesbee, Devin, Posey, Jennifer E., Potocki, Lorraine, Rao, Deepak A., Raper, Anna, Raskind, Wendy, Renteria, Genecee, Rives, Lynette, Rodan, Lance H., Rosenthal, Elizabeth, Rossignol, Francis, Sacco, Ralph, Sampson, Jacinda B., Saporta, Mario, Scott, Daryl A., Shelkowitz, Emily, Shin, Jimann, Sisco, Kathy, Smith, Edward C., Solomon, Ben, Sullivan, Kathleen, Sybert, Virginia, Tarakad, Arjun, Tekin, Mustafa, Thorson, Willa, Toro, Camilo, Tran, Alyssa A., Ungar, Rachel A., Vanderver, Adeline, Viskochil, Dave, 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, Saillour, Virginie, Sacharow, Stephanie, Kanca, Oguz, Bellen, Hugo J., Palmer, Christina G.S.

    Veröffentlicht in Genetics in medicine

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    The Undiagnosed Diseases Network: Characteristics of solvable applicants and diagnostic suggestions for nonaccepted ones von Mulvihill, John J., Findley, Laura, Newman, John H., Wheeler, Matthew T., Mokry, Jill R., Al-Beshri, Ali, Balasubramanyam, Ashok, Bamshad, Michael, Beck, Anita, Behrens, Edward, Bejerano, Gill, Bellen, Hugo J., Bernstein, Jonathan A., Bonner, Devon, Botto, Lorenzo, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Byers, Peter, Cassini, Thomas, Coakley, Terra R., Cobban, Laurel A., Cole, F. Sessions, Dai, Hongzheng, Davis, Joie, Delgado, Margaret, Earl, Dawn, Ezell, Kimberly, Fieg, Elizabeth L., Fisher, Paul G., Gahl, William A., Gonzalez, Joanna M., Gropman, Andrea, Hamid, Rizwan, Hassey, Kelly, Holm, Ingrid A., Hom, Jason, Hurst, Anna, Jarvik, Jeffrey, Jayadev, Suman, Marie, Orpa Jean, Jobanputra, Vaidehi, Karasozen, Yigit, Kilich, Gonench, Kobren, Shilpa N., Korf, Bruce, Krakow, Deborah, Kravets, Elijah, Lam, Christina, Lanza, Ian R., LeBlanc, Kimberly, Lee, Brendan H., Longo, Nicola, Maas, Richard L., Macnamara, Ellen F., Maghiro, Audrey Stephannie, Mao, Rong, Marth, Gabor, McConkie-Rosell, Allyn, McCray, Alexa T., Mikati, Mohamad, Morimoto, Marie, Mulvihill, John J., Novacic, Donna, Oglesbee, Devin, Parker, Neil H., Petcharet, Leoyklang, Posey, Jennifer E., Rao, Deepak A., Raper, Anna, Raskind, Wendy, Rebelo, Adriana, Robertson, Amy K., Rodriguez, Martin, Rosenfeld, Jill A., Ruzhnikov, Maura, Sabaii, Marla, Schedl, Timothy, Seto, Elaine, Shelkowitz, Emily, Sisco, Kathy, Skelton, Tammi, Smith, Carson A., Solnica-Krezel, Lilianna, Sullivan, Kathleen, Sybert, Virginia, Tan, Amelia L.M., Taylor, Herman, Thorson, Willa, Tran, Alyssa A., Vanderver, Adeline, Vogel, Tiphanie P., Wahl, Colleen E., Walker, Melissa, Wangler, Michael F., Ward, Patricia A., Wheeler, Matthew T., Wolfe, Lynne A., Yamamoto, Shinya, Zhang, Zhe

    Veröffentlicht in Genetics in medicine

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    Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities von Atala, Kristhen, Dutta, Debdeep, Khanshour, Anas, Balasubramanyam, Ashok, Burrage, Lindsay C., Clark, Gary D., Ketkar, Shamika, Posey, Jennifer E., Rosenfeld, Jill A., Seto, Elaine, Scott, Daryl A., Tran, Alyssa A., Hubshman, Monika Weisz, Kanca, Oguz, Eng, Christine M., Falk, Marni, Hassey, Kelly, Zhang, Zhe, Mikati, Mohamad, Beggs, Alan H., Berry, Gerard T., Coggins, Matthew, Fieg, Elizabeth L., High, Frances, Holm, Ingrid A., Maas, Richard L., MacRae, Calum A., Pallais, J. Carl, Rao, Deepak A., Silverman, Edwin K., Sweetser, David A., Glanton, Emily, Maghiro, Audrey Stephannie C., McCray, Alexa T., Tan, Amelia L.M., Dasari, Surendra, Bademci, Guney, Barbouth, Deborah, Bivona, Stephanie, Borja, Nicholas, Gonzalez, Joanna M., Latchman, Kumarie, Tekin, Mustafa, Zuchner, Stephan, Gropman, Andrea, Macnamara, Ellen F., Maduro, Valerie V., Novacic, Donna, Toro, Camilo, Wahl, Colleen E., Adams, David R., Afzali, Ben, Burke, Elizabeth A., Fu, Jiayu, Wood, Heidi, Allworth, Aimee, Blue, Elizabeth, Chanprasert, Sirisak, Glass, Ian, Lam, Christina, Mirzaa, Ghayda, Raskind, Wendy, Alvarez, Raquel L., Bejerano, Gill, Bonner, Devon, Fisher, Paul G., Kohler, Jennefer N., Kravets, Elijah, Marwaha, Shruti, Ruzhnikov, Maura, Sutton, Shirley, Ungar, Rachel A., Crouse, Andrew B., Whitlock, Jordan, Butte, Manish J., Corona, Rosario, Dell'Angelica, Esteban C., Dorrani, Naghmeh, Fogel, Brent L., McGee, Elisabeth, Nieves-Rodriguez, Shirley, Alvey, Justin, Bohnsack, John, Moretti, Paolo, Quinlan, Aaron, Marth, Gabor, Bican, Anna, Cassini, Thomas, Corner, Brian, Hamid, Rizwan, Rives, Lynette, Robertson, Amy K., Ezell, Kimberly, Cogan, Joy D., Hayes, Nichole, Wegner, Daniel, Cole, F. Sessions, Schedl, Timothy, Wangler, Michael F., Bellen, Hugo J.

    Veröffentlicht in Genetics in medicine

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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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    Reanalysis of RNA sequencing data ends diagnostic odyssey and expands the phenotypic spectrum of congenital titinopathy von McNamee, Lucy, Huang, Alden, Wang, Lee‐kai, Buckley, Anne F., Adams, David R., Afzali, Ben, Allworth, Aimee, Alvey, Justin, Andrews, Ashley, Bacino, Carlos A., Bademci, Guney, Baldridge, Dustin, Bale, Jim, Barbouth, Deborah, Beck, Anita, Bennett, Jimmy, Berry, Gerard T., Borja, Nicholas, Briere, Lauren C., Callaway, Kaitlin, Chanprasert, Sirisak, Coggins, Matthew, Craigen, William J., Cuddapah, Vishnu, Darr, Kahlen, Dipple, Katrina, Doherty, Daniel, Douglas, Jessica, Emrick, Lisa T., Eng, Christine M., Fogel, Brent L., Fu, Jiayu, Glass, Ian, Gropman, Andrea, Halley, Meghan C., Hassey, Kelly, Hayes, Nichole, Hing, Anne, Horike‐Pyne, Martha, Huang, Alden, Huang, Yan, Karasozen, Yigit, Ketkar, Shamika, Kilich, Gonench, Klee, Eric, Kohler, Jennefer N., Korrick, Susan, Kravets, Elijah, Lalani, Seema R., Latchman, Kumarie, LeBlanc, Kimberly, Liu, Pengfei, Longo, Nicola, MacRae, Calum A., Maghiro, AudreyStephannie, Mahoney, Rachel, Malicdan, May Christine V., Martin, Beth A., Miller, Danny, Moretti, Paolo, Mulvihill, Lindsay, Neumann, Serena, Novacic, Donna, Orengo, James P., Pace, Laura, Pak, Stephen, Parker, Neil H., Pinto e Vairo, Filippo, Posey, Jennifer E., Potocki, Lorraine, Rader, Daniel J., Rosenfeld, Jill A., Ruzhnikov, Maura, Sampson, Jacinda B., Schoch, Kelly, Shashi, Vandana, Shin, Jimann, Silverman, Edwin K., Skelton, Tammi, Spillmann, Rebecca C., Stergachis, Andrew, Stoler, Joan M., Sutton, Shirley, Sweetser, David A., Tabor, Holly K., Tan, Queenie, Tan, Amelia L. M., Tifft, Cynthia J., Viskochil, Dave, Walker, Melissa, Walley, Nicole M., Wambach, Jennifer, Ward, Patricia A., Wegner, Daniel, Hubshman, Monika Weisz, Wener, Mark, Wenger, Tara, Westerfield, Monte, Wood, Heidi, Worley, Kim


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