Treffer 1 - 20 von 57 für Suche 'Alvey, Edward', Suchdauer: 1,14s Treffer weiter einschränken
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    Bi-allelic variants in INTS11 are associated with a complex neurological disorder von Tepe, Burak, Cogne, Benjamin, Neil, Jennifer E., Walsh, Christopher A., Magal, Nurit, Drasinover, Valerie, Schwab, Tanya, Schmitz, Chris, Clark, Karl, Blanc, Pierre, Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bayrak-Toydemir, Pinar, Beck, Anita, Behrens, Edward, Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Boyd, Brenna, Briere, Lauren C., Brown, Gabrielle, Byers, Peter, Byrd, William E., Carey, John, Clark, Gary D., Coakley, Terra R., Colley, Heather A., Craigen, William J., Cunningham, Michael, Dasari, Surendra, Dayal, Jyoti G., Deardorff, Matthew, Dipple, Katrina, Doherty, Daniel, Doss, Argenia L., Emrick, Lisa T., Fernandez, Liliana, Forghani, Irman, Glass, Ian, Gochuico, Bernadette, Golden-Grant, Katie, Goldrich, Madison P., Gutierrez, Irma, Hamid, Rizwan, Hayes, Nichole, Hom, Jason, Horike-Pyne, Martha, Isasi, Rosario, Jarvik, Jeffrey, Jobanputra, Vaidehi, Karaviti, Lefkothea, Kiley, Dana, Kobren, Shilpa N., Krasnewich, Donna M., LeBlanc, Kimberly, Levitt, Roy, Mahoney, Rachel, Malicdan, May Christine V., Mamounas, Laura A., Mao, Rong, Maravilla, Kenneth, Marom, Ronit, Martin, Martin G., Martínez-Agosto, Julian A., Merritt, J. Lawrence, Morava, Eva, Newman, John H., Nickerson, Deborah, Novacic, Donna, Oglesbee, Devin, Pace, Laura, Palmer, Christina GS, Papp, Jeanette C., Rao, Deepak A., Renteria, Genecee, Reuter, Chloe M., Robertson, Amy K., Rosenfeld, Jill A., Rossignol, Francis, Ruzhnikov, Maura, Scott, C. Ron, Shin, Jimann, Sinsheimer, Janet S., Sullivan, Jennifer A., Sun, Angela, Tabor, Holly K., Telischi, Fred, Toro, Camilo, Tucker, Brianna M., Urv, Tiina K., Vogel, Tiphanie P., Walker, Melissa, Wangler, Michael F., Perry, Katherine Wesseling, Westerfield, Monte, Wolfe, Lynne A., Worley, Kim, Xiao, Changrui, Zuchner, Stephan


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    A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3 von Michener, Sydney L., Chan, Hiuling, Rosenfeld, Jill A., Bekheirnia, Mir Reza, Wagner, Matias, Engels, Hartmut, Guillen Sacoto, Maria J., McDonnell, Pamela P., Pastinen, Tomi, Zhou, Dihong, Bolton, Jeffrey, Julia Suh, Dong Sun, Toosi, Mehran Beiraghi, Maroofian, Reza, Schaefer, Gerald Bradley, Russ-Hall, Sophie, Carvill, Gemma L., Mefford, Heather, Acosta, Maria T., Adams, David R., Amendola, Laura, Bademci, Guney, Balasubramanyam, Ashok, Beck, Anita, Bican, Anna, Blue, Elizabeth, Botto, Lorenzo, Boyd, Brenna, Briere, Lauren C., Brown, Gabrielle, Carey, John, Crouse, Andrew B., Dipple, Katrina, Doss, Argenia L., Douine, Emilie D., Eckstein, David J., Fieg, Elizabeth L., Forghani, Irman, Godfrey, Rena A., Grajewski, Alana, Hahn, Sihoun, Hisama, Fuki M., Hutchison, Sarah, Introne, Wendy, Ketkar, Shamika, Kiley, Dana, Kilich, Gonench, Korrick, Susan, Kozuira, Mary, Krakow, Deborah, Kravets, Elijah, Lalani, Seema R., LeBlanc, Kimberly, Levitt, Roy, Lewis, Richard A., Loo, Sandra K., Mahoney, Rachel, Mao, Rong, Maravilla, Kenneth, Marwaha, Shruti, McCray, Alexa T., Mefford, Heather, Merritt, J. Lawrence, Morava, Eva, Nakano-Okuno, Mariko, Nelson, Stanley F., Phillips III, John A., Posey, Jennifer E., Potocki, Lorraine, Rao, Deepak A., Raskind, Wendy, Renteria, Genecee, Reuter, Chloe M., Robertson, Amy K., Rossignol, Francis, Ruzhnikov, Maura, Saporta, Mario, Seto, Elaine, Sisco, Kathy, Spillmann, Rebecca C., Stoler, Joan M., Tabor, Holly K., Tan, Queenie K.-G., Tan, Amelia L.M., Telischi, Fred, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Ungar, Rachel A., Vogel, Tiphanie P., Wallace, Stephanie, Wambach, Jennifer, Wegner, Daniel, Wener, Mark, Wenger, Tara, Westerfield, Monte, Worley, Kim, Xiao, Changrui, Yang, John, Chao, Hsiao-Tuan


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    De novo variants in DENND5B cause a neurodevelopmental disorder von Scala, Marcello, Ferla, Matteo, Fatemi, Ali, Phillips, John A., Rio, Marlene, Siquier, Karine, Musante, Ilaria, Baldassari, Simona, Iacomino, Michele, Acosta, Maria T., Allworth, Aimee, Afzali, Ben, Bademci, Guney, Beck, Anita, Berry, Gerard T., Bican, Anna, Bohnsack, John, Botto, Lorenzo, Brown, Gabrielle, Carrasquillo, Olveen, Chanprasert, Sirisak, Chao, HsiaoTuan, Chinn, Ivan, Clark, Gary D., Cope, Heidi, Craigen, William J., D’Souza, Precilla, Dipple, Katrina, Doherty, Daniel, Doss, Argenia L., Fisher, Paul G., Fogel, Brent L., Gahl, William A., Glass, Ian, Godfrey, Rena A., Grajewski, Alana, Gropman, Andrea, Halley, Meghan C., Hanchard, Neal, Hassey, Kelly, Hayes, Nichole, Hom, Jason, Huang, Alden, Introne, Wendy, Jarvik, Jeffrey, Jobanputra, Vaidehi, Kilich, Gonench, Kohler, Jennefer N., Korrick, Susan, Krasnewich, Donna M., Lam, Byron, Lam, Christina, Lanpher, Brendan C., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., Maduro, Valerie V., Marth, Gabor, Martin, Beth A., Marwaha, Shruti, McConkie-Rosell, Allyn, McCray, Alexa T., Moretti, Paolo, Morimoto, Marie, Nakano-Okuno, Mariko, Nieves-Rodriguez, Shirley, Orengo, James P., Pace, Laura, Parker, Neil H., Quinlan, Aaron, Raper, Anna, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rossignol, Francis, Saporta, Mario, Schaechter, Judy, Seto, Elaine, Shelkowitz, Emily, Shin, Jimann, Solnica-Krezel, Lilianna, Sweetser, David A., Sybert, Virginia, Tarakad, Arjun, Velinder, Matt, Viskochil, Dave, Ward, Patricia A., Wegner, Daniel, Weisz Hubshman, Monika, Wener, Mark, Wenger, Tara, Reed, Sara, Al Saif, Hind, Walsh, Matthew B., Gustincich, Stefano, Ruggiero, Sarah M., Fitzgerald, Mark P., Helbig, Ingo, Severino, Mariasavina


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    De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling von Morleo, Manuela, Briere, Lauren C., Rosello, Marion, Tirozzi, Alfonsina, Tammaro, Roberta, High, Frances A., Adams, David R., Alvey, Justin, Bale, Jim, Bayrak-Toydemir, Pinar, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bonner, Devon, Butte, Manish J., Byrd, William E., Cassini, Thomas, Coakley, Terra R., Cobban, Laurel A., Cole, F. Sessions, Colley, Heather A., Dai, Hongzheng, Davis, Joie, Douine, Emilie D., 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, Jobanputra, Vaidehi, Karaviti, Lefkothea, Korrick, Susan, Krasnewich, Donna M., Lam, Byron, Liu, Pengfei, Longo, Nicola, Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., Maduro, Valerie V., Manolio, Teri A., Marwaha, Shruti, Mirzaa, Ghayda, Morava, Eva, Nakano-Okuno, Mariko, Nicholas, Sarah K., Pallais, J. Carl, Raskind, Wendy, Rosenwasser, Natalie, Sampson, Jacinda B., Schedl, Timothy, Shashi, Vandana, Smith, Edward C., Sullivan, Jennifer A., Sweetser, David A., Sybert, Virginia, Tekin, Mustafa, Tran, Alyssa A., Ungar, Rachel A., Vanderver, Adeline, Wallace, Stephanie, Walley, Nicole M., Wambach, Jennifer, Wan, Jijun, Wang, Lee-kai, Ward, Patricia A., Wegner, Daniel, Wener, Mark, Wenger, Tara, Westerfield, Monte, Wolfe, Lynne A., Worley, Kim, Xiao, Changrui, Torella, Annalaura, Morleo, Manuela, Spampanato, Carmine, Pinelli, Michele, Massimello, Marta, Leuzzi, Vincenzo, Romano, Corrado, Amenta, Simona, Grandone, Anna, Marini, Carla, Bigoni, Stefania, Trabacca, Antonio, De Rinaldis, Marta, Ferrante, Luigi, Torella, Annalaura, Tenconi, Romano, van Gassen, Koen L.I., Attie-Bitach, Tania, Zollino, Marcella, Sweetser, David A.


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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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