Resultats de la cerca - Tuttle, Emily

Comparison of insertion/deletion calling algorithms on human next-generation sequencing data per 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 per 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 per 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 per 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 per 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 per 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 per 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 per 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 per 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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