Ngā hua rapu - Chan, Ada
- E whakaatu ana i te 1 - 11 hua o te 11
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Genomic Context Analysis of de Novo STXBP1 Mutations Identifies Evidence of Splice Site DNA-Motif Associated Hotspots mā Uddin, Mohammed, Woodbury-Smith, Marc, Chan, Ada J. S., Albanna, Ammar, Minassian, Berge, Boelman, Cyrus, Scherer, Stephen W.
I whakaputaina 2018Text -
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Expanding the neurodevelopmental phenotypes of individuals with de novo KMT2A variants mā Chan, Ada J. S., Cytrynbaum, Cheryl, Hoang, Ny, Ambrozewicz, Patricia M., Weksberg, Rosanna, Drmic, Irene, Ritzema, Anne, Schachar, Russell, Walker, Susan, Uddin, Mohammed, Zarrei, Mehdi, Yuen, Ryan K. C., Scherer, Stephen W.
I whakaputaina 2019Text -
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A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data mā Trost, Brett, Walker, Susan, Wang, Zhuozhi, Thiruvahindrapuram, Bhooma, MacDonald, Jeffrey R., Sung, Wilson W.L., Pereira, Sergio L., Whitney, Joe, Chan, Ada J.S., Pellecchia, Giovanna, Reuter, Miriam S., Lok, Si, Yuen, Ryan K.C., Marshall, Christian R., Merico, Daniele, Scherer, Stephen W.
I whakaputaina 2018Text -
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Germline and somatic mutations in STXBP1 with diverse neurodevelopmental phenotypes mā Uddin, Mohammed, Woodbury-Smith, Marc, Chan, Ada, Brunga, Ledia, Lamoureux, Sylvia, Pellecchia, Giovanna, Yuen, Ryan K.C., Faheem, Muhammad, Stavropoulos, Dimitri J., Drake, James, Hahn, Cecil D., Hawkins, Cynthia, Shlien, Adam, Marshall, Christian R., Turner, Lesley A., Minassian, Berge A., Scherer, Stephen W., Boelman, Cyrus
I whakaputaina 2017Text -
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Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay mā Uddin, Mohammed, Pellecchia, Giovanna, Thiruvahindrapuram, Bhooma, D’Abate, Lia, Merico, Daniele, Chan, Ada, Zarrei, Mehdi, Tammimies, Kristiina, Walker, Susan, Gazzellone, Matthew J., Nalpathamkalam, Thomas, Yuen, Ryan K. C., Devriendt, Koenraad, Mathonnet, Géraldine, Lemyre, Emmanuelle, Nizard, Sonia, Shago, Mary, Joseph-George, Ann M., Noor, Abdul, Carter, Melissa T., Yoon, Grace, Kannu, Peter, Tihy, Frédérique, Thorland, Erik C., Marshall, Christian R., Buchanan, Janet A., Speevak, Marsha, Stavropoulos, Dimitri J., Scherer, Stephen W.
I whakaputaina 2016Text -
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Genome-wide characteristics of de novo mutations in autism mā Yuen, Ryan KC, Merico, Daniele, Cao, Hongzhi, Pellecchia, Giovanna, Alipanahi, Babak, Thiruvahindrapuram, Bhooma, Tong, Xin, Sun, Yuhui, Cao, Dandan, Zhang, Tao, Wu, Xueli, Jin, Xin, Zhou, Ze, Liu, Xiaomin, Nalpathamkalam, Thomas, Walker, Susan, Howe, Jennifer L, Wang, Zhuozhi, MacDonald, Jeffrey R, Chan, Ada JS, D’Abate, Lia, Deneault, Eric, Siu, Michelle T, Tammimies, Kristiina, Uddin, Mohammed, Zarrei, Mehdi, Wang, Mingbang, Li, Yingrui, Wang, Jun, Wang, Jian, Yang, Huanming, Bookman, Matt, Bingham, Jonathan, Gross, Samuel S, Loy, Dion, Pletcher, Mathew, Marshall, Christian R, Anagnostou, Evdokia, Zwaigenbaum, Lonnie, Weksberg, Rosanna, Fernandez, Bridget A, Roberts, Wendy, Szatmari, Peter, Glazer, David, Frey, Brendan J, Ring, Robert H, Xu, Xun, Scherer, Stephen W
I whakaputaina 2016Text -
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A large data resource of genomic copy number variation across neurodevelopmental disorders mā Zarrei, Mehdi, Burton, Christie L., Engchuan, Worrawat, Young, Edwin J., Higginbotham, Edward J., MacDonald, Jeffrey R., Trost, Brett, Chan, Ada J. S., Walker, Susan, Lamoureux, Sylvia, Heung, Tracy, Mojarad, Bahareh A., Kellam, Barbara, Paton, Tara, Faheem, Muhammad, Miron, Karin, Lu, Chao, Wang, Ting, Samler, Kozue, Wang, Xiaolin, Costain, Gregory, Hoang, Ny, Pellecchia, Giovanna, Wei, John, Patel, Rohan V., Thiruvahindrapuram, Bhooma, Roifman, Maian, Merico, Daniele, Goodale, Tara, Drmic, Irene, Speevak, Marsha, Howe, Jennifer L., Yuen, Ryan K. C., Buchanan, Janet A., Vorstman, Jacob A. S., Marshall, Christian R., Wintle, Richard F., Rosenberg, David R., Hanna, Gregory L., Woodbury-Smith, Marc, Cytrynbaum, Cheryl, Zwaigenbaum, Lonnie, Elsabbagh, Mayada, Flanagan, Janine, Fernandez, Bridget A., Carter, Melissa T., Szatmari, Peter, Roberts, Wendy, Lerch, Jason, Liu, Xudong, Nicolson, Rob, Georgiades, Stelios, Weksberg, Rosanna, Arnold, Paul D., Bassett, Anne S., Crosbie, Jennifer, Schachar, Russell, Stavropoulos, Dimitri J., Anagnostou, Evdokia, Scherer, Stephen W.
I whakaputaina 2019Text -
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Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder mā Yuen, Ryan KC, Merico, Daniele, Bookman, Matt, Howe, Jennifer L, Thiruvahindrapuram, Bhooma, Patel, Rohan V, Whitney, Joe, Deflaux, Nicole, Bingham, Jonathan, Wang, Zhuozhi, Pellecchia, Giovanna, Buchanan, Janet A, Walker, Susan, Marshall, Christian R, Uddin, Mohammed, Zarrei, Mehdi, Deneault, Eric, D’Abate, Lia, Chan, Ada JS, Koyanagi, Stephanie, Paton, Tara, Pereira, Sergio L, Hoang, Ny, Engchuan, Worrawat, Higginbotham, Edward J, Ho, Karen, Lamoureux, Sylvia, Li, Weili, MacDonald, Jeffrey R, Nalpathamkalam, Thomas, Sung, Wilson WL, Tsoi, Fiona J, Wei, John, Xu, Lizhen, Tasse, Anne-Marie, Kirby, Emily, Van Etten, William, Twigger, Simon, Roberts, Wendy, Drmic, Irene, Jilderda, Sanne, Modi, Bonnie MacKinnon, Kellam, Barbara, Szego, Michael, Cytrynbaum, Cheryl, Weksberg, Rosanna, Zwaigenbaum, Lonnie, Woodbury-Smith, Marc, Brian, Jessica, Senman, Lili, Iaboni, Alana, Doyle-Thomas, Krissy, Thompson, Ann, Chrysler, Christina, Leef, Jonathan, Savion-Lemieux, Tal, Smith, Isabel M, Liu, Xudong, Nicolson, Rob, Seifer, Vicki, Fedele, Angie, Cook, Edwin H, Dager, Stephen, Estes, Annette, Gallagher, Louise, Malow, Beth A, Parr, Jeremy R, Spence, Sarah J, Vorstman, Jacob, Frey, Brendan J, Robinson, James T, Strug, Lisa J, Fernandez, Bridget A, Elsabbagh, Mayada, Carter, Melissa T, Hallmayer, Joachim, Knoppers, Bartha M, Anagnostou, Evdokia, Szatmari, Peter, Ring, Robert H, Glazer, David, Pletcher, Mathew T, Scherer, Stephen W
I whakaputaina 2017Text