Search Results - "Austin, Elise"

State of the art review in gonadal dysgenesis: challenges in diagnosis and management by McCann-Crosby, Bonnie, Mansouri, Roshanak, Dietrich, Jennifer E, McCullough, Laurence B, Sutton, V Reid, Austin, Elise G, Schlomer, Bruce, Roth, David R, Karaviti, Lefkothea, Gunn, Sheila, Hicks, M John, Macias, Charles G

“…Gonadal dysgenesis, a condition in which gonadal development is interrupted leading to gonadal dysfunction, is a unique subset of disorders of sexual…”
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Complementation In Trans of Altered Thymocyte Development in Mice Expressing Mutant Forms of the Adaptor Molecule SLP76 by Jordan, Martha S., Smith, Jennifer E., Burns, Jeremy C., Austin, Jessica-Elise T., Nichols, Kim E., Aschenbrenner, Anna C., Koretzky, Gary A.

“…The adaptor protein SLP76 directs signaling downstream of the T cell receptor (TCR) and is essential for thymocyte development. SLP76 contains three N-terminal…”
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Novel de novo mutations in EFTUD2 detected by exome sequencing in mandibulofacial dysostosis with Microcephaly syndrome by Sarkar, Arindam, Emrick, Lisa T., Smith, Eboni M., Austin, Elise G., Yang, Yaping, Hunter, Jill V., Scaglia, Fernando, Lalani, Seema R.

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Early Onset and Severe Clinical Course Associated with the m.5540G>A Mutation in MT-TW by Granadillo, Jorge L, Moss, Timothy, Lewis, Richard A, Austin, Elise G, Kelfer, Howard, Wang, Jing, Wong, Lee-Jun C, Scaglia, Fernando

“…We report a patient harboring a m.5540G>A mutation affecting the gene coding for the mitochondrial tryptophan-transfer RNA. This patient presented with…”
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Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome by Lalani, Seema R., Zhang, Jing, Schaaf, Christian P., Brown, Chester W., Magoulas, Pilar, Tsai, Anne Chun-Hui, El-Gharbawy, Areeg, Wierenga, Klaas J., Bartholomew, Dennis, Fong, Chin-To, Barbaro-Dieber, Tina, Kukolich, Mary K., Burrage, Lindsay C., Austin, Elise, Keller, Kory, Pastore, Matthew, Fernandez, Fabio, Lotze, Timothy, Wilfong, Angus, Purcarin, Gabriela, Zhu, Wenmiao, Craigen, William J., McGuire, Marianne, Jain, Mahim, Cooney, Erin, Azamian, Mahshid, Bainbridge, Matthew N., Muzny, Donna M., Boerwinkle, Eric, Person, Richard E., Niu, Zhiyv, Eng, Christine M., Lupski, James R., Gibbs, Richard A., Beaudet, Arthur L., Yang, Yaping, Wang, Meng C., Xia, Fan

“…5q31.3 microdeletion syndrome is characterized by neonatal hypotonia, encephalopathy with or without epilepsy, and severe developmental delay, and the minimal…”
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Storm event analysis at varying watershed scales: Turkey Creek, Santee Experimental Forest, South Carolina by Morrison, Austin Elise

“…Coastal areas are expected to see the greatest impact on water resources due to population increase and land development which can affect the regional water…”
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Guidelines for evaluating and managing children born with disorders of sexual development by Douglas, Ganka, Axelrad, Marni E, Brandt, Mary L, Crabtree, Elizabeth, Dietrich, Jennifer E, French, Shannon, Gunn, Sheila, Karaviti, Lefkothea, Lopez, Monica E, Macias, Charles G, McCullough, Laurence B, Suresh, Deepa, Austin, Elise, Reid Sutton, V

“…Children born with disorders of sexual differentiation (DSD) pose numerous challenges for the parents, family, and treating physicians. The pediatrician is…”
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Complementation in trans of altered thymocyte development in knock-in mice expressing mutant forms of SLP76 by Jordan, Martha S., Smith, Jennifer E., Burns, Jeremy C., Austin, Jessica-Elise T., Nichols, Kim E., Aschenbrenner, Anna C., Koretzky, Gary A.

“…The adaptor protein SLP76 directs signaling downstream of the TCR and is essential for thymocyte development. SLP76 contains three tyrosines in its N-terminus…”
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Article: Complementation In Trans of Altered Thymocyte Development in Mice Expressing Mutant Forms of the Adaptor Molecule SLP76 by Jordan, Martha S, Smith, Jennifer E, Burns, Jeremy C, Austin, Jessica-Elise T, Nichols, Kim E, Aschenbrenner, Anna C, Koretzky, Gary A

“…The adaptor protein SLP76 directs signaling downstream of the T cell receptor (TCR) and is essential for thymocyte development. SLP76 contains three N-terminal…”
Get full text