المؤلفون: Oikonomou, Vasileios, Smith, Grace, Constantine, Gregory, Schmitt, Monica, Ferré, Elise, Alejo, Julie, Riley, Deanna, Kumar, Dhaneshwar, Dos Santos Dias, Lucas, Pechacek, Joseph, Hadjiyannis, Yannis, Webb, Taura, Seifert, Bryce, Ghosh, Rajarshi, Walkiewicz, Magdalena, Martin, Daniel, Besnard, Marine, Snarr, Brendan, Deljookorani, Shiva, Lee, Chyi-Chia, DiMaggio, Tom, Barber, Princess, Rosen, Lindsey, Cheng, Aristine, Rastegar, Andre, de Jesus, Adriana, Stoddard, Jennifer, Kuehn, Hye, Break, Timothy, Kong, Heidi, Castelo-Soccio, Leslie, Colton, Ben, Warner, Blake, Kleiner, David, Quezado, Martha, Davis, Jeremy, Fennelly, Kevin, Olivier, Kenneth, Rosenzweig, Sergio, Suffredini, Anthony, Anderson, Mark, Swidergall, Marc, Guillonneau, Carole, Notarangelo, Luigi, Goldbach-Mansky, Raphaela, Neth, Olaf, Monserrat-Garcia, Maria, Valverde-Fernandez, Justo, Lucena, Jose, Gomez-Gila, Ana, Garcia Rojas, Angela, Seppänen, Mikko, Lohi, Jouko, Hero, Matti, Laakso, Saila, Klemetti, Paula, Lundberg, Vanja, Ekwall, Olov, Olbrich, Peter, Winer, Karen, Afzali, Behdad, Moutsopoulos, Niki, Holland, Steven, Heller, Theo, Pittaluga, Stefania, Lionakis, Michail

المصدر: New England Journal of Medicine. 390(20)

مصطلحات موضوعية: Adult, Animals, Female, Humans, Male, Mice, AIRE Protein, Autoantibodies, Chemokine CXCL9, Interferon-gamma, Janus Kinase Inhibitors, Mice, Knockout, Nitriles, Polyendocrinopathies, Autoimmune, Pyrazoles, Pyrimidines, T-Lymphocytes, Transcription Factors, Pilot Projects, Disease Models, Animal, Child, Adolescent, Middle Aged

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/6cw64500
https://escholarship.org/content/qt6cw64500/qt6cw64500.pdf

المؤلفون: Beers, Breanna J., Davidson-Swinton, Hannah R., Lewis, Katie L., Setzer, Michael R., Walkiewicz, Magdalena A., Similuk, Morgan N.

المساهمون: National Institutes of Health

المصدر: Journal of Community Genetics ; ISSN 1868-6001

الاتاحة: https://doi.org/10.1007/s12687-024-00758-z
https://link.springer.com/content/pdf/10.1007/s12687-024-00758-z.pdf
https://link.springer.com/article/10.1007/s12687-024-00758-z/fulltext.html

المؤلفون: Aluri, Jahnavi, Bach, Alicia, Kaviany, Saara, Chiquetto Paracatu, Luana, Kitcharoensakkul, Maleewan, Walkiewicz, Magdalena A, Putnam, Christopher D, Shinawi, Marwan, Saucier, Nermina, Rizzi, Elise M, Harmon, Michael T, Keppel, Molly P, Ritter, Michelle, Similuk, Morgan, Kulm, Elaine, Joyce, Michael, de Jesus, Adriana A, Goldbach-Mansky, Raphaela, Lee, Yi-Shan, Cella, Marina, Kendall, Peggy L, Dinauer, Mary C, Bednarski, Jeffrey J, Bemrich-Stolz, Christina, Canna, Scott W, Abraham, Shirley M, Demczko, Matthew M, Powell, Jonathan, Jones, Stacie M, Scurlock, Amy M, De Ravin, Suk See, Bleesing, Jack J, Connelly, James A, Rao, V Koneti, Schuettpelz, Laura G, Cooper, Megan A

المصدر: Blood. 137(18)

مصطلحات موضوعية: Stem Cell Research, Clinical Research, Genetics, Transplantation, Stem Cell Research - Nonembryonic - Human, Hematology, 2.1 Biological and endogenous factors, Aetiology, Underpinning research, 1.1 Normal biological development and functioning, Inflammatory and immune system, Good Health and Well Being, Adolescent, Adult, B-Lymphocytes, Bone Marrow Failure Disorders, Cell Differentiation, Child, Child, Preschool, Cytokines, Female, Follow-Up Studies, Gain of Function Mutation, Humans, Immunologic Deficiency Syndromes, Infant, Inflammation, Lymphocyte Activation, Male, Mosaicism, Pancytopenia, Pedigree, Prognosis, T-Lymphocytes, Toll-Like Receptor 8, Young Adult, Cardiorespiratory Medicine and Haematology, Clinical Sciences, Paediatrics and Reproductive Medicine, Immunology

URL الوصول: https://escholarship.org/uc/item/8zm7z9p5

المؤلفون: Moses, Rachel Gore, Jodarski, Colleen, Setzer, Michael, Lewis, Katie L., Yan, Jia, Byers, Sophie, Yavi, Mani, Ballard, Elizabeth D., Walkiewicz, Magdalena, Zarate, Carlos A., Austin, Jehannine C., Similuk, Morgan

المساهمون: Division of Intramural Research, National Institute of Mental Health

المصدر: Journal of Genetic Counseling ; ISSN 1059-7700 1573-3599

الاتاحة: http://dx.doi.org/10.1002/jgc4.1949
https://onlinelibrary.wiley.com/doi/pdf/10.1002/jgc4.1949

المؤلفون: Beck, David B, Basar, Mohammed A, Asmar, Anthony J, Thompson, Joyce J, Oda, Hirotsugu, Uehara, Daniela T, Saida, Ken, Pajusalu, Sander, Talvik, Inga, D’Souza, Precilla, Bodurtha, Joann, Mu, Weiyi, Barañano, Kristin W, Miyake, Noriko, Wang, Raymond, Kempers, Marlies, Tamada, Tomoko, Nishimura, Yutaka, Okada, Satoshi, Kosho, Tomoki, Dale, Ryan, Mitra, Apratim, Macnamara, Ellen, Matsumoto, Naomichi, Inazawa, Johji, Walkiewicz, Magdalena, Õunap, Katrin, Tifft, Cynthia J, Aksentijevich, Ivona, Kastner, Daniel L, Rocha, Pedro P, Werner, Achim

المصدر: Science Advances. 7(4)

مصطلحات موضوعية: Biochemistry and Cell Biology, Biomedical and Clinical Sciences, Genetics, Biological Sciences, Human Genome, Rare Diseases, Pediatric, Generic health relevance, Chromatin, Genomics, Humans, Signal Transduction, Ubiquitin, Ubiquitination, Undiagnosed Diseases Network

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/9t7682d4

المؤلفون: Beers, Breanna J., Similuk, Morgan N., Ghosh, Rajarshi, Seifert, Bryce A., Jamal, Leila, Kamen, Michael, Setzer, Michael R., Jodarski, Colleen, Duncan, Rylee, Hunt, Devin, Mixer, Madison, Cao, Wenjia, Bi, Weimin, Veltri, Daniel, Karlins, Eric, Zhang, Lingwen, Li, Zhiwen, Oler, Andrew J., Jevtich, Kathleen, Yu, Yunting, Hullfish, Haley, Bielekova, Bibiana, Frischmeyer-Guerrerio, Pamela, Dang Do, An, Huryn, Laryssa A., Olivier, Kenneth N., Su, Helen C., Lyons, Jonathan J., Zerbe, Christa S., Rao, V. Koneti, Keller, Michael D., Freeman, Alexandra F., Holland, Steven M., Franco, Luis M., Walkiewicz, Magdalena A., Yan, Jia

المساهمون: Division of Intramural Research, National Institute of Allergy and Infectious Diseases

المصدر: Frontiers in Immunology ; volume 14 ; ISSN 1664-3224

الاتاحة: http://dx.doi.org/10.3389/fimmu.2023.1172004
https://www.frontiersin.org/articles/10.3389/fimmu.2023.1172004/full

المؤلفون: Boast, Brigette, Goel, Shubham, González-Granado, Luis I., Niemela, Julie, Stoddard, Jennifer, Edwards, Emily S.J., Seneviratne, Sandali, Spensberger, Dominik, Quesada-Espinosa, Juan F., Allende, Luis M., McDonnell, John, Haseley, Alexandria, Lesmana, Harry, Walkiewicz, Magdalena A., Muhammad, Emad, Bosco, Julian J., Fleisher, Thomas A., Cohen, Shai, Holland, Steven M., van Zelm, Menno C., Enders, Anselm, Kuehn, Hye Sun, Rosenzweig, Sergio D.

المصدر: Journal of Allergy and Clinical Immunology ; volume 152, issue 3, page 736-747 ; ISSN 0091-6749

الاتاحة: http://dx.doi.org/10.1016/j.jaci.2023.05.017
https://api.elsevier.com/content/article/PII:S0091674923007121?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0091674923007121?httpAccept=text/plain

المؤلفون: Stray-Pedersen, Asbjørg, Sorte, Hanne Sørmo, Samarakoon, Pubudu, Gambin, Tomasz, Chinn, Ivan K, Akdemir, Zeynep H Coban, Erichsen, Hans Christian, Forbes, Lisa R, Gu, Shen, Yuan, Bo, Jhangiani, Shalini N, Muzny, Donna M, Rødningen, Olaug Kristin, Sheng, Ying, Nicholas, Sarah K, Noroski, Lenora M, Seeborg, Filiz O, Davis, Carla M, Canter, Debra L, Mace, Emily M, Vece, Timothy J, Allen, Carl E, Abhyankar, Harshal A, Boone, Philip M, Beck, Christine R, Wiszniewski, Wojciech, Fevang, Børre, Aukrust, Pål, Tjønnfjord, Geir E, Gedde-Dahl, Tobias, Hjorth-Hansen, Henrik, Dybedal, Ingunn, Nordøy, Ingvild, Jørgensen, Silje F, Abrahamsen, Tore G, Øverland, Torstein, Bechensteen, Anne Grete, Skogen, Vegard, Osnes, Liv TN, Kulseth, Mari Ann, Prescott, Trine E, Rustad, Cecilie F, Heimdal, Ketil R, Belmont, John W, Rider, Nicholas L, Chinen, Javier, Cao, Tram N, Smith, Eric A, Caldirola, Maria Soledad, Bezrodnik, Liliana, Reyes, Saul Oswaldo Lugo, Rosales, Francisco J Espinosa, Guerrero-Cursaru, Nina Denisse, Pedroza, Luis Alberto, Poli, Cecilia M, Franco, Jose L, Vargas, Claudia M Trujillo, Becerra, Juan Carlos Aldave, Wright, Nicola, Issekutz, Thomas B, Issekutz, Andrew C, Abbott, Jordan, Caldwell, Jason W, Bayer, Diana K, Chan, Alice Y, Aiuti, Alessandro, Cancrini, Caterina, Holmberg, Eva, West, Christina, Burstedt, Magnus, Karaca, Ender, Yesil, Gözde, Artac, Hasibe, Bayram, Yavuz, Atik, Mehmed Musa, Eldomery, Mohammad K, Ehlayel, Mohammad S, Jolles, Stephen, Flatø, Berit, Bertuch, Alison A, Hanson, I Celine, Zhang, Victor W, Wong, Lee-Jun, Hu, Jianhong, Walkiewicz, Magdalena, Yang, Yaping, Eng, Christine M, Boerwinkle, Eric, Gibbs, Richard A, Shearer, William T, Lyle, Robert, Orange, Jordan S, Lupski, James R

المصدر: Journal of Allergy and Clinical Immunology. 139(1)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Immunology, Human Genome, Prevention, Clinical Research, Genetic Testing, Genetics, Rare Diseases, 2.1 Biological and endogenous factors, Detection, screening and diagnosis, 4.1 Discovery and preclinical testing of markers and technologies, Aetiology, Good Health and Well Being, Adolescent, Adult, Aged, Child, Child, Preschool, DNA Copy Number Variations, Female, Genomics, High-Throughput Nucleotide Sequencing, Humans, Immunologic Deficiency Syndromes, Infant, Male, Middle Aged, Young Adult, Primary immunodeficiency disease, whole-exome sequencing, copy number variants, Allergy

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/8188960d

المؤلفون: Shashi, Vandana, Pena, Loren, Kim, Katherine, Burton, Barbara, Hempel, Maja, Schoch, Kelly, Walkiewicz, Magdalena, McLaughlin, Heather, Cho, Megan, Stong, Nicholas, Hickey, Scott, Shuss, Christine, Freemark, Michael, Bellet, Jane, Keels, Martha, Bonner, Melanie, El-Dairi, Maysantoine, Butler, Megan, Kranz, Peter, Stumpel, Constance, Klinkenberg, Sylvia, Oberndorff, Karin, Alawi, Malik, Santer, Rene, Petrovski, Slavé, Kuismin, Outi, Korpi-Heikkilä, Satu, Pietilainen, Olli, Aarno, Palotie, Kurki, Mitja, Hoischen, Alexander, Need, Anna, Goldstein, David, Kortüm, Fanny

المصدر: American Journal of Human Genetics. 99(4)

مصطلحات موضوعية: ASXL2, developmental delay, glabellar nevus flammeus, intellectual disability, macrocephaly, whole-exome sequencing, Child, Child, Preschool, Developmental Disabilities, Exome, Eyebrows, Humans, Hypertelorism, Infant, Infant, Newborn, Male, Megalencephaly, Muscle Hypotonia, Phenotype, RNA, Messenger, Repressor Proteins, Syndrome

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/29x678jv
https://escholarship.org/content/qt29x678jv/qt29x678jv.pdf

المؤلفون: Ochoa, Sebastian, Hsu, Amy P, Oler, Andrew J, Kumar, Dhaneshwar, Chauss, Daniel, van Hamburg, Jan Piet, van Laar, Gustaaf G, Oikonomou, Vasileios, Ganesan, Sundar, Ferré, Elise M N, Schmitt, Monica M, DiMaggio, Tom, Barber, Princess, Constantine, Gregory M, Rosen, Lindsey B, Auwaerter, Paul G, Gandhi, Bhumika, Miller, Jennifer L, Eisenberg, Rachel, Rubinstein, Arye, Schussler, Edith, Balliu, Erjola, Shashi, Vandana, Neth, Olaf, Olbrich, Peter, Le, Kim My, Mamia, Nanni, Laakso, Saila, Nevalainen, Pasi I, Grönholm, Juha, Seppänen, Mikko R J, Boon, Louis, Uzel, Gulbu, Franco, Luis M, Heller, Theo, Winer, Karen K, Ghosh, Rajarshi, Seifert, Bryce A, Walkiewicz, Magdalena, Notarangelo, Luigi D, Zhou, Qing, Askentijevich, Ivona, Gahl, William, Dalgard, Cliffton L, Perera, Lalith, Afzali, Behdad, Tas, Sander W, Holland, Steven M, Lionakis, Michail S

المساهمون: Ochoa, Sebastian, Hsu, Amy P, Oler, Andrew J, Kumar, Dhaneshwar, Chauss, Daniel, van Hamburg, Jan Piet, van Laar, Gustaaf G, Oikonomou, Vasileio, Ganesan, Sundar, Ferré, Elise M N, Schmitt, Monica M, Dimaggio, Tom, Barber, Prince, Constantine, Gregory M, Rosen, Lindsey B, Auwaerter, Paul G, Gandhi, Bhumika, Miller, Jennifer L, Eisenberg, Rachel, Rubinstein, Arye, Schussler, Edith, Balliu, Erjola, Shashi, Vandana, Neth, Olaf, Olbrich, Peter, Le, Kim My, Mamia, Nanni, Laakso, Saila, Nevalainen, Pasi I, Grönholm, Juha, Seppänen, Mikko R J, Boon, Loui, Uzel, Gulbu, Franco, Luis M, Heller, Theo, Winer, Karen K, Ghosh, Rajarshi, Seifert, Bryce A, Walkiewicz, Magdalena, Notarangelo, Luigi D, Zhou, Qing, Askentijevich, Ivona, Gahl, William, Dalgard, Cliffton L, Perera, Lalith, Afzali, Behdad, Tas, Sander W, Holland, Steven M, Lionakis, Michail S

Relation: info:eu-repo/semantics/altIdentifier/pmid/39292801; info:eu-repo/semantics/altIdentifier/wos/WOS:001315379200002; volume:16; issue:765; journal:SCIENCE TRANSLATIONAL MEDICINE; https://hdl.handle.net/11391/1586880

الاتاحة: https://hdl.handle.net/11391/1586880
https://doi.org/10.1126/scitranslmed.adk0845

المؤلفون: Drummond, Rebecca A., Desai, Jigar V., Hsu, Amy P., Oikonomou, Vasileios, Vinh, Donald C., Acklin, Joshua A., Abers, Michael S., Walkiewicz, Magdalena A., Anzick, Sarah L., Swamydas, Muthulekha, Vautier, Simon, Natarajan, Mukil, Oler, Andrew J., Yamanaka, Daisuke, Mayer-Barber, Katrin D., Iwakura, Yoichiro, Bianchi, David, Driscoll, Brian, Hauck, Ken, Kline, Ahnika, Viall, Nicholas S.P., Zerbe, Christa S., Ferré, Elise M.N., Schmitt, Monica M., DiMaggio, Tom, Pittaluga, Stefania, Butman, John A., Zelazny, Adrian M., Shea, Yvonne R., Arias, Cesar A., Ashbaugh, Cameron, Mahmood, Maryam, Temesgen, Zelalem, Theofiles, Alexander G., Nigo, Masayuki, Moudgal, Varsha, Bloch, Karen C., Kelly, Sean G., Whitworth, M. Suzanne, Rao, Ganesh, Whitener, Cindy J., Mafi, Neema, Gea-Banacloche, Juan, Kenyon, Lawrence C., Miller, William R., Boggian, Katia, Gilbert, Andrea, Sincock, Matthew, Freeman, Alexandra F., Bennett, John E., Hasbun, Rodrigo, Mikelis, Constantinos M., Kwon-Chung, Kyung J., Belkaid, Yasmine, Brown, Gordon D., Lim, Jean K., Kuhns, Douglas B., Holland, Steven M., Lionakis, Michail S.

المصدر: Department of Pathology, Anatomy, and Cell Biology Faculty Papers

مصطلحات موضوعية: animals, humans, male, mice, beta-glucans, CARD signaling adaptor proteins, lectins, C-type, macrophages, phaeohyphomycosis, tumor necrosis Factor-alpha, Medical Immunology, Medical Microbiology, Medicine and Health Sciences, Pathology

وصف الملف: application/pdf

Relation: https://jdc.jefferson.edu/pacbfp/372; https://jdc.jefferson.edu/cgi/viewcontent.cgi?article=1376&context=pacbfp

الاتاحة: https://jdc.jefferson.edu/pacbfp/372
https://jdc.jefferson.edu/cgi/viewcontent.cgi?article=1376&context=pacbfp

المؤلفون: Moshin, Noreen, Hunt, Devin, Jabbour, Austin J., Nghiem, Paul, Freemam, Alexandra F., Bergerson, Jenna R.E., Similuk, Morgan, Lachance, Kristina, Kulikauskas, Rima, Seifert, Bryce A., Ghosh, Rajarshi, Walkiewicz, Magdalena A., Brownell, Isaac

المصدر: Journal of Investigative Dermatology ; volume 142, issue 10, page 2839 ; ISSN 0022-202X

الاتاحة: http://dx.doi.org/10.1016/j.jid.2022.08.017
https://api.elsevier.com/content/article/PII:S0022202X22017493?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0022202X22017493?httpAccept=text/plain

المؤلفون: Ghosh, Rajarshi, Bosticardo, Marita, Singh, Sunita, Similuk, Morgan, Delmonte, Ottavia M., Pala, Francesca, Peng, Christine, Jodarski, Colleen, Keller, Michael D., Chinn, Ivan K., Groves, Andrew K., Notarangelo, Luigi D., Walkiewicz, Magdalena A., Chinen, Javier, Bundy, Vanessa

المساهمون: National Institutes of Health, National Institute of Allergy and Infectious Diseases

المصدر: Journal of Allergy and Clinical Immunology ; volume 150, issue 6, page 1556-1562 ; ISSN 0091-6749

الاتاحة: http://dx.doi.org/10.1016/j.jaci.2022.08.005
https://api.elsevier.com/content/article/PII:S0091674922010582?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0091674922010582?httpAccept=text/plain

المؤلفون: Shobnam, Nadia, Ratley, Grace, Saksena, Sarini, Yadav, Manoj, Chaudhary, Prem Prashant, Sun, Ashleigh A, Howe, Katherine N, Gadkari, Manasi, Franco, Luis M, Ganesan, Sundar, McCann, Katelyn J, Hsu, Amy P, Kanakabandi, Kishore, Ricklefs, Stacy, Lack, Justin, Yu, Weiming, Similuk, Morgan, Walkiewicz, Magdalena A, Gardner, Donna D, Barta, Kelly, Tullos, Kathryn, Myles, Ian A

المصدر: British Journal of Dermatology ; volume 191, issue Supplement_2 ; ISSN 0007-0963 1365-2133

الاتاحة: http://dx.doi.org/10.1093/bjd/ljae266.007
https://academic.oup.com/bjd/article-pdf/191/Supplement_2/ljae266.007/58750677/ljae266.007.pdf

المؤلفون: Durkee-Shock, Jessica, Cohen, Ariella, Pezzella, Gloria, Jensen-Wachspress, Mariah, Maghzian, Naseem, Saldana, Blachy Davila, Bollard, Catherine, Sosnovtsev, Stanislav, Chaimongkol, Natthawan, Cohen, Jeffrey, Walkiewicz, Magdalena, Freeman, Alexandra, Gonzalez, Corina, Notarangelo, Luigi, Green, Kim, Keller, Michael

المصدر: Clinical Immunology ; volume 262, page 110015 ; ISSN 1521-6616

الاتاحة: http://dx.doi.org/10.1016/j.clim.2024.110015
https://api.elsevier.com/content/article/PII:S1521661624001967?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1521661624001967?httpAccept=text/plain

المؤلفون: Orellana, Halyn, Reynolds-Lallement, Nadja, Byers, Sophie, Damskey, Ekaterina, Walkiewicz, Magdalena, Similuk, Morgan, Domínguez, Alejandra King, Notarangelo, Luigi, Delmonte, Ottavia, Seifert, Bryce

المصدر: Clinical Immunology ; volume 262, page 109970 ; ISSN 1521-6616

الاتاحة: http://dx.doi.org/10.1016/j.clim.2024.109970
https://api.elsevier.com/content/article/PII:S1521661624001517?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1521661624001517?httpAccept=text/plain

المؤلفون: Mohsin, Noreen, Hunt, Devin, Yan, Jia, Jabbour, Austin J., Nghiem, Paul, Choi, Jaehyuk, Zhang, Yue, Freeman, Alexandra F., Bergerson, Jenna R. E., Dell’Orso, Stefania, Lachance, Kristina, Kulikauskas, Rima, Collado, Loren, Cao, Wenjia, Lack, Justin, Similuk, Morgan, Seifert, Bryce A., Ghosh, Rajarshi, Walkiewicz, Magdalena A., Brownell, Isaac

المصدر: JAMA Dermatology ; volume 160, issue 2, page 172 ; ISSN 2168-6068

الاتاحة: http://dx.doi.org/10.1001/jamadermatol.2023.5362
https://jamanetwork.com/journals/jamadermatology/articlepdf/2813276/jamadermatology_mohsin_2024_oi_230064_1707346932.16001.pdf

المؤلفون: Delmonte, Ottavia M, Bergerson, Jenna Ruth Ember, Kawai, Tomoki, Kuehn, Hye Sun, McDermott, David H, Cortese, Irene, Zimmermann, Michael T, Dobbs, Kerry, Bosticardo, Marita, Fink, Danielle, Majumdar, Shamik, Palterer, Boaz, Pala, Francesca, Dsouza, Nikita R, Pouzolles, Marie, Taylor, Naomi, Calvo, Katherine Rainsford, Daley, Stephen R, Velez, Daniel S, Agharahimi, Anahita, Myint-Hpu, Katherine, Dropulic, Lesia, Lyons, Jonathan J, Holland, Steven M, Freeman, Alexandra F, Ghosh, Rajarshi, Similuk, Morgan N, Niemela, Julie E, Stoddard, Jennifer L, Kuhns, Douglas B, Urrutia, Raul, Rosenzweig, Sergio, Walkiewicz, Magdalena A, Murphy, Philip, Notarangelo, Luigi D

المصدر: Blood

وصف الملف: application/pdf

Relation: https://eprints.qut.edu.au/212847/1/97636079.pdf; Delmonte, Ottavia M, Bergerson, Jenna Ruth Ember, Kawai, Tomoki, Kuehn, Hye Sun, McDermott, David H, Cortese, Irene, Zimmermann, Michael T, Dobbs, Kerry, Bosticardo, Marita, Fink, Danielle, Majumdar, Shamik, Palterer, Boaz, Pala, Francesca, Dsouza, Nikita R, Pouzolles, Marie, Taylor, Naomi, Calvo, Katherine Rainsford, Daley, Stephen R, Velez, Daniel S, Agharahimi, Anahita, Myint-Hpu, Katherine, Dropulic, Lesia, Lyons, Jonathan J, Holland, Steven M, Freeman, Alexandra F, Ghosh, Rajarshi, Similuk, Morgan N, Niemela, Julie E, Stoddard, Jennifer L, Kuhns, Douglas B, Urrutia, Raul, Rosenzweig, Sergio, Walkiewicz, Magdalena A, Murphy, Philip, & Notarangelo, Luigi D (2021) SASH3 variants cause a novel form of X-linked combined immunodeficiency with immune dysregulation. Blood, 138(12), pp. 1019-1033.; https://eprints.qut.edu.au/212847/; Centre for Immunology and Infection Control; Faculty of Health; School of Biomedical Sciences

الاتاحة: https://eprints.qut.edu.au/212847/

المؤلفون: Kinoshita, Hannah, Durkee-Shock, Jessica, Jensen-Wachspress, Mariah, Kankate, Vaishnavi V., Lang, Haili, Lazarski, Christopher A., Keswani, Anjeni, Webber, Kathleen C., Montgomery-Recht, Kimberly, Walkiewicz, Magdalena, Notarangelo, Luigi D., Burbelo, Peter D., Fuss, Ivan, Cohen, Jeffrey I., Bollard, Catherine M., Keller, Michael D.

المساهمون: National Heart, Lung, and Blood Institute, Jeffrey Modell Foundation, National Institutes of Health

المصدر: Journal of Clinical Immunology ; volume 41, issue 6, page 1146-1153 ; ISSN 0271-9142 1573-2592

الاتاحة: http://dx.doi.org/10.1007/s10875-021-01046-y
https://link.springer.com/content/pdf/10.1007/s10875-021-01046-y.pdf
https://link.springer.com/article/10.1007/s10875-021-01046-y/fulltext.html

المؤلفون: Beers, Breanna J., Davidson, Hannah R., Lewis, Katie L., Setzer, Michael R., Walkiewicz, Magdalena A., Similuk, Morgan N.

الاتاحة: https://doi.org/10.21203/rs.3.rs-5145738/v1
https://www.researchsquare.com/article/rs-5145738/v1
https://www.researchsquare.com/article/rs-5145738/v1.html