Որոնման արդյունքները - Vargas-Hernandez, Alexander
- Ցուցադրվում են 1 - 11 արդյունքները 11
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Gain-of-Function STAT1 Mutation With Familial Lymphadenopathy and Hodgkin Lymphoma Henrickson, Sarah E., Dolan, Joseph G., Forbes, Lisa R., Vargas-Hernández, Alexander, Nishimura, Shiho, Okada, Satoshi, Kersun, Leslie S., Brodeur, Garrett M., Heimall, Jennifer R.
Հրապարակվել է 2019Տեքստ -
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High-resolution phenotyping identifies NK cell subsets that distinguish healthy children from adults Mahapatra, Sanjana, Mace, Emily M., Minard, Charles G., Forbes, Lisa R., Vargas-Hernandez, Alexander, Duryea, Teresa K., Makedonas, George, Banerjee, Pinaki P., Shearer, William T., Orange, Jordan S.
Հրապարակվել է 2017Տեքստ -
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A Novel STAT3 Mutation in a Qatari Patient With Hyper-IgE Syndrome Chaimowitz, Natalia S., Branch, Justin, Reyes, Anaid, Vargas-Hernández, Alexander, Orange, Jordan S., Forbes, Lisa R., Ehlayel, Mohammed, Purayil, Saleema C., Al-Nesf, Maryam Ali, Vogel, Tiphanie P.
Հրապարակվել է 2019Տեքստ -
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Human STAT5b mutation causes dysregulated human natural killer cell maturation and impaired lytic function. Vargas-Hernández, Alexander, Witalisz-Siepracka, Agnieszka, Prchal-Murphy, Michaela, Klein, Klara, Mahapatra, Sanjana, Al-Herz, Waleed, Mace, Emily M., Carisey, Alexandre F., Orange, Jordan S, Sexl, Veronika, Forbes, Lisa R.
Հրապարակվել է 2019Տեքստ -
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Novel Heterozygous Mutation in NFKB2 Is Associated With Early Onset CVID and a Functional Defect in NK Cells Complicated by Disseminated CMV Infection and Severe Nephrotic Syndrome Aird, Alejandra, Lagos, Macarena, Vargas-Hernández, Alexander, Posey, Jennifer E., Coban-Akdemir, Zeynep, Jhangiani, Shalini, Mace, Emily M., Reyes, Anaid, King, Alejandra, Cavagnaro, Felipe, Forbes, Lisa R., Chinn, Ivan K., Lupski, James R., Orange, Jordan S., Poli, Maria Cecilia
Հրապարակվել է 2019Տեքստ -
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Mutations in PI3K110δ cause impaired NK cell function partially rescued by rapamycin treatment Ruiz-García, Raquel, Vargas-Hernandez, Alexander, Chinn, Ivan K., Angelo, Laura S., Cao, Tram N., Coban-Akdemir, Zeynep, Jhangiani, Shalini N., Meng, Qingchang, Forbes, Lisa R., Muzny, Donna M., Allende, Luis M., Ehlayel, Mohammed S., Gibbs, Richard A., Lupski, James R., Uzel, Gulbu, Orange, Jordan S., Mace, Emily M.
Հրապարակվել է 2018Տեքստ -
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Ruxolitinib partially reverses functional NK cell deficiency in patients with STAT1 gain-of-function mutations Vargas-Hernandez, Alexander, Mace, Emily M., Zimmerman, Ofer, Zerbe, Christa S., Freeman, Alexandra F., Rosenzweig, Sergio, Leiding, Jennifer W., Torgerson, Troy, Altman, Matthew C., Schussler, Edith, Cunningham-Rundles, Charlotte, Chinn, Ivan K., Carisey, Alexandre F., Hanson, Imelda C., Rider, Nicholas L., Holland, Steven M., Orange, Jordan S., Forbes, Lisa R.
Հրապարակվել է 2017Տեքստ -
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Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AID Kuhny, Marcel, Forbes, Lisa R., Çakan, Elif, Vega-Loza, Andrea, Kostiuk, Valentyna, Dinesh, Ravi K., Glauzy, Salomé, Stray-Pedersen, Asbjorg, Pezzi, Ashley E., Hanson, I. Celine, Vargas-Hernandez, Alexander, Xu, Mina LuQuing, Coban-Akdemir, Zeynep H., Jhangiani, Shalini N., Muzny, Donna M., Gibbs, Richard A., Lupski, James R., Chinn, Ivan K., Schatz, David G., Orange, Jordan S., Meffre, Eric
Հրապարակվել է 2020Տեքստ -
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HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease Cook, Sarah A., Comrie, William A., Poli, M. Cecilia, Similuk, Morgan, Oler, Andrew J., Faruqi, Aiman J., Kuhns, Douglas B., Yang, Sheng, Vargas-Hernández, Alexander, Carisey, Alexandre F., Fournier, Benjamin, Anderson, D. Eric, Price, Susan, Smelkinson, Margery, Abou Chahla, Wadih, Forbes, Lisa R., Mace, Emily M., Cao, Tram N., Coban-Akdemir, Zeynep H., Jhangiani, Shalini N., Muzny, Donna M., Gibbs, Richard A., Lupski, James R., Orange, Jordan S., Cuvelier, Geoffrey D.E., Al Hassani, Moza, AL Kaabi, Nawal, Al Yafei, Zain, Jyonouchi, Soma, Raje, Nikita, Caldwell, Jason W., Huang, Yanping, Burkhardt, Janis K., Latour, Sylvain, Chen, Baoyu, ElGhazali, Gehad, Rao, V. Koneti, Chinn, Ivan K., Lenardo, Michael J.
Հրապարակվել է 2020Տեքստ -
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Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations Milner, Joshua D., Vogel, Tiphanie P., Forbes, Lisa, Ma, Chi A., Stray-Pedersen, Asbjørg, Niemela, Julie E., Lyons, Jonathan J., Engelhardt, Karin R., Zhang, Yu, Topcagic, Nermina, Roberson, Elisha D. O., Matthews, Helen, Verbsky, James W., Dasu, Trivikram, Vargas-Hernandez, Alexander, Varghese, Nidhy, McClain, Kenneth L., Karam, Lina B., Nahmod, Karen, Makedonas, George, Mace, Emily M., Sorte, Hanne S., Perminow, Gøri, Rao, V. Koneti, O’Connell, Michael P., Price, Susan, Su, Helen C., Butrick, Morgan, McElwee, Joshua, Hughes, Jason D., Willet, Joseph, Swan, David, Xu, Yaobo, Santibanez-Koref, Mauro, Slowik, Voytek, Dinwiddie, Darrell L., Ciaccio, Christina E., Saunders, Carol J., Septer, Seth, Kingsmore, Stephen F., White, Andrew J., Cant, Andrew J., Hambleton, Sophie, Cooper, Megan A.
Հրապարակվել է 2015Տեքստ