Results
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Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation. [electronic resource] by
- 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
Producer: 20150126
In:
European journal of human genetics : EJHG vol. 22
Availability: No items available.
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De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy. [electronic resource] by
- 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
Producer: 20140530
In:
American journal of human genetics vol. 94
Availability: No items available.
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Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly. [electronic resource] by
- 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, Sihoun
Producer: 20150511
In:
Epilepsia vol. 56
Availability: No items available.
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De novo mutations in SIK1 cause a spectrum of developmental epilepsies. [electronic resource] by
- 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
Producer: 20150529
In:
American journal of human genetics vol. 96
Availability: No items available.
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Expanding the neurodevelopmental phenotype of PURA syndrome. [electronic resource] by
- 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
Producer: 20180621
In:
American journal of medical genetics. Part A vol. 176
Availability: No items available.
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