Kết quả tìm kiếm - Tuttle, Emily
- Đang hiển thị 1 - 9 kết quả của 9
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Epilepsy-causing sequence variations in SIK1 disrupt synaptic activity response gene expression and affect neuronal morphology Bằng Pröschel, Christoph, Hansen, Jeanne N, Ali, Adil, Tuttle, Emily, Lacagnina, Michelle, Buscaglia, Georgia, Halterman, Marc W, Paciorkowski, Alex R
Được phát hành 2017Text -
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Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation Bằng Paciorkowski, Alex R, Weisenberg, Judy, Kelley, Joshua B, Spencer, Adam, Tuttle, Emily, Ghoneim, Dalia, Thio, Liu Lin, Christian, Susan L, Dobyns, William B, Paschal, Bryce M
Được phát hành 2014Text -
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De Novo Mutations in the Beta-Tubulin Gene TUBB2A Cause Simplified Gyral Patterning and Infantile-Onset Epilepsy Bằng Cushion, Thomas D., Paciorkowski, Alex R., Pilz, Daniela T., Mullins, Jonathan G.L., Seltzer, Laurie E., Marion, Robert W., Tuttle, Emily, Ghoneim, Dalia, Christian, Susan L., Chung, Seo-Kyung, Rees, Mark I., Dobyns, William B.
Được phát hành 2014Text -
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De Novo Mutations in SIK1 Cause a Spectrum of Developmental Epilepsies Bằng Hansen, Jeanne, Snow, Chelsi, Tuttle, Emily, Ghoneim, Dalia H., Yang, Chun-Song, Spencer, Adam, Gunter, Sonya A., Smyser, Christopher D., Gurnett, Christina A., Shinawi, Marwan, Dobyns, William B., Wheless, James, Halterman, Marc W., Jansen, Laura A., Paschal, Bryce M., Paciorkowski, Alex R.
Được phát hành 2015Text -
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De Novo Mutations in SIK1 Cause a Spectrum of Developmental Epilepsies Bằng Hansen, Jeanne, Snow, Chelsi, Tuttle, Emily, Ghoneim, Dalia H., Yang, Chun-Song, Spencer, Adam, Gunter, Sonya A., Smyser, Christopher D., Gurnett, Christina A., Shinawi, Marwan, Dobyns, William B., Wheless, James, Halterman, Marc W., Jansen, Laura A., Paschal, Bryce M., Paciorkowski, Alex R.
Được phát hành 2015Text -
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Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly Bằng Paciorkowski, Alex R., McDaniel, Sharon S., Jansen, Laura A., Tully, Hannah, Tuttle, Emily, Ghoneim, Dalia H., Tupal, Srinivasan, Gunter, Sonya A., Vasta, Valeria, Zhang, Qing, Tran, Thao, Liu, Yi B., Ozelius, Laurie J., Brashear, Allison, Sweadner, Kathleen J., Dobyns, William B., Hahn, Si Houn
Được phát hành 2015Text -
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Expanding the neurodevelopmental phenotype of PURA syndrome Bằng Lee, Bo Hoon, Reijnders, Margot R.F., Abubakare, Oluwatobi, Tuttle, Emily, Lape, Brynn, Minks, Kelly Q., Stodgell, Christopher, Bennetto, Loisa, Kwon, Jennifer, Fong, Chin-To, Gripp, Karen W., Marsh, Eric D., Smith, Wendy E., Huq, Ahm M., Coury, Stephanie A., Tan, Wen-Hann, Solis, Orestes, Mehta, Rupal I, Leventer, Richard J., Baralle, Diana, Hunt, David, Paciorkowski, Alex R.
Được phát hành 2017Text