نتائج البحث - Tuttle, Emily

Comparison of insertion/deletion calling algorithms on human next-generation sequencing data حسب Ghoneim, Dalia H, Myers, Jason R, Tuttle, Emily, Paciorkowski, Alex R

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PLXNA1 developmental encephalopathy with syndromic features: A case report and review of the literature حسب Park, Kaylee, Seltzer, Laurie E., Tuttle, Emily, Mirzaa, Ghayda M., Paciorkowski, Alex R.

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Epilepsy-causing sequence variations in SIK1 disrupt synaptic activity response gene expression and affect neuronal morphology حسب Pröschel, Christoph, Hansen, Jeanne N, Ali, Adil, Tuttle, Emily, Lacagnina, Michelle, Buscaglia, Georgia, Halterman, Marc W, Paciorkowski, Alex R

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Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation حسب 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

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De Novo Mutations in the Beta-Tubulin Gene TUBB2A Cause Simplified Gyral Patterning and Infantile-Onset Epilepsy حسب 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.

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De Novo Mutations in SIK1 Cause a Spectrum of Developmental Epilepsies حسب 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.

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De Novo Mutations in SIK1 Cause a Spectrum of Developmental Epilepsies حسب 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.

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Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly حسب 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

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Expanding the neurodevelopmental phenotype of PURA syndrome حسب 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.

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