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    De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay von Chong, Jessica X., McMillin, Margaret J., Shively, Kathryn M., Beck, Anita E., Marvin, Colby T., Armenteros, Jose R., Buckingham, Kati J., Nkinsi, Naomi T., Boyle, Evan A., Berry, Margaret N., Bocian, Maureen, Foulds, Nicola, Uzielli, Maria Luisa Giovannucci, Haldeman-Englert, Chad, Hennekam, Raoul C.M., Kaplan, Paige, Kline, Antonie D., Mercer, Catherine L., Nowaczyk, Malgorzata J.M., Klein Wassink-Ruiter, Jolien S., McPherson, Elizabeth W., Moreno, Regina A., Scheuerle, Angela E., Shashi, Vandana, Stevens, Cathy A., Carey, John C., Monteil, Arnaud, Lory, Philippe, Tabor, Holly K., Smith, Joshua D., Shendure, Jay, Nickerson, Deborah A., Bamshad, Michael J., Shendure, Jay, Nickerson, Deborah A., Abecasis, Gonçalo R., Anderson, Peter, Blue, Elizabeth Marchani, Annable, Marcus, Browning, Brian L., Buckingham, Kati J., Chen, Christina, Chin, Jennifer, Chong, Jessica X., Cooper, Gregory M., Davis, Colleen P., Frazar, Christopher, Harrell, Tanya M., He, Zongxiao, Jain, Preti, Jarvik, Gail P., Jimenez, Guillaume, Johanson, Eric, Jun, Goo, Kircher, Martin, Kolar, Tom, Krauter, Stephanie A., Krumm, Niklas, Leal, Suzanne M., Luksic, Daniel, Marvin, Colby T., McMillin, Margaret J., McGee, Sean, O’Reilly, Patrick, Paeper, Bryan, Patterson, Karynne, Perez, Marcos, Phillips, Sam W., Pijoan, Jessica, Poel, Christa, Reinier, Frederic, Robertson, Peggy D., Santos-Cortez, Regie, Shaffer, Tristan, Shephard, Cindy, Shively, Kathryn M., Siegel, Deborah L., Smith, Joshua D., Staples, Jeffrey C., Tabor, Holly K., Tackett, Monica, Underwood, Jason G., Wegener, Marc, Wang, Gao, Wheeler, Marsha M., Yi, Qian, Bamshad, Michael J.


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    Deciphering the impact of genomic variation on function von Engreitz, Jesse M., Lawson, Heather A., Singh, Harinder, Starita, Lea M., Hon, Gary C., Carter, Hannah, Sahni, Nidhi, Reddy, Timothy E., Lin, Xihong, Li, Yun, Munshi, Nikhil V., Chahrour, Maria H., Boyle, Alan P., Hitz, Benjamin C., Mortazavi, Ali, Craven, Mark, Mohlke, Karen L., Pinello, Luca, Wang, Ting, Kundaje, Anshul, Yue, Feng, Cody, Sarah, Farrell, Nina P., Love, Michael I., Muffley, Lara A., Pazin, Michael J., Reese, Fairlie, Van Buren, Eric, Dey, Kushal K., Kircher, Martin, Ma, Jian, Radivojac, Predrag, Balliu, Brunilda, Williams, Brian A., Huangfu, Danwei, Park, Chong Y., Quertermous, Thomas, Das, Jishnu, Calderwood, Michael A., Fowler, Douglas M., Vidal, Marc, Ferreira, Lucas, Mooney, Sean D., Pejaver, Vikas, Zhao, Jingjing, Gazal, Steven, Koch, Evan, Reilly, Steven K., Sunyaev, Shamil, Carpenter, Anne E., Buenrostro, Jason D., Leslie, Christina S., Savage, Rachel E., Giric, Stefanija, Luo, Chongyuan, Plath, Kathrin, Barrera, Alejandro, Schubach, Max, Gschwind, Andreas R., Moore, Jill E., Ahituv, Nadav, Yi, S. Stephen, Hallgrimsdottir, Ingileif, Gaulton, Kyle J., Sakaue, Saori, Booeshaghi, Sina, Mattei, Eugenio, Nair, Surag, Pachter, Lior, Wang, Austin T., Shendure, Jay, Agarwal, Vikram, Blair, Andrew, Chalkiadakis, Theofilos, Chardon, Florence M., Dash, Pyaree M., Deng, Chengyu, Hamazaki, Nobuhiko, Keukeleire, Pia, Kubo, Connor, Lalanne, Jean-Benoît, Maass, Thorben, Martin, Beth, McDiarmid, Troy A., Nobuhara, Mai, Page, Nicholas F., Regalado, Sam, Sims, Jasmine, Ushiki, Aki, Best, Sabrina M., Boyle, Gabe, Camp, Nathan, Casadei, Silvia, Da, Estelle Y., Dawood, Moez, Dawson, Samantha C., Fayer, Shawn, Hamm, Audrey, James, Richard G., Jarvik, Gail P.

    Veröffentlicht in Nature (London)

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