المؤلفون: Rota, IA, Handel, AE, Maio, S, Klein, F, Dhalla, F, Deadman, ME, Cheuk, S, Newman, JA, Michaels, YS, Zuklys, S, Prevot, N, Hublitz, P, Charles, PD, Gkazi, AS, Adamopoulou, E, Qasim, W, Davies, EG, Hanson, I, Pagnamenta, AT, Camps, C, Dreau, HM, White, A, James, K, Fischer, R, Gileadi, O, Taylor, JC, Fulga, T, Lagerholm, BC, Anderson, G, Sezgin, E, Hollander, GA

المصدر: Science advances. 7(49)

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:148406730

المؤلفون: Martinez, Caridad, Aguayo-Hiraldo, Paibel, Chaimowitz, Natalia, Forbes, Lisa, Rider, Nicholas, Nicholas, Sarah, Seeborg, Filiz, Chinen, Javier, Chinn, Ivan, Davis, Carla, Roseblatt, Howard, Noroski, Lenora, Omer, Bilal, John, Tami, Yassine, Khaled, Naik, Swati, Craddock, John, Bhar, Saleh, Allen, Carl, Ahmed, Nabil, Sasa, Ghadir, Steffin, David, Doherty, Erin, George, Anil, Salem, Baheyeldin, Friend, Brian, Hegde, Meenakshi, Brenner, Malcolm K., Heslop, Helen E., Leen, Ann, Peña, Amanda, Wu, Mengfen, Hanson, I. Celine, Krance, Robert A.

المصدر: In Blood Advances 9 May 2023 7(9):1823-1830

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: Hunt, A., Hanson, I., Dunlop, A., Barnes, H., Bower, L., Chick, J., Cruickshank, C., Hall, E., Herbert, T., Lawes, R., McQuaid, D., McNair, H., Mitchell, A., Mohajer, J., Morgan, T., Oelfke, U., Smith, G., Nill, S., Huddart, R., Hafeez, S.

المصدر: In Clinical and Translational Radiation Oncology November 2020 25:46-51

المؤلفون: De Ravin, Suk See, Wu, Xiaolin, Moir, Susan, Kardava, Lela, Anaya-O’Brien, Sandra, Kwatemaa, Nana, Littel, Patricia, Theobald, Narda, Choi, Uimook, Su, Ling, Marquesen, Martha, Hilligoss, Dianne, Lee, Janet, Buckner, Clarissa M, Zarember, Kol A, O’Connor, Geraldine, McVicar, Daniel, Kuhns, Douglas, Throm, Robert E, Zhou, Sheng, Notarangelo, Luigi D, Hanson, I Celine, Cowan, Mort J, Kang, Elizabeth, Hadigan, Coleen, Meagher, Michael, Gray, John T, Sorrentino, Brian P, Malech, Harry L

المصدر: Science Translational Medicine. 8(335)

مصطلحات موضوعية: Medical Biotechnology, Biomedical and Clinical Sciences, Stem Cell Research - Nonembryonic - Human, Biotechnology, Stem Cell Research, Pediatric, Gene Therapy, Genetics, Vaccine Related, Transplantation, Regenerative Medicine, Rare Diseases, Stem Cell Research - Nonembryonic - Non-Human, 2.1 Biological and endogenous factors, Aetiology, Development of treatments and therapeutic interventions, 5.2 Cellular and gene therapies, Inflammatory and immune system, Adolescent, Adult, B-Lymphocytes, Child, Genetic Therapy, Genetic Vectors, Hematopoietic Stem Cells, Humans, Interleukin Receptor Common gamma Subunit, Killer Cells, Natural, Lentivirus, Male, T-Lymphocytes, X-Linked Combined Immunodeficiency Diseases, Young Adult, Biological Sciences, Medical and Health Sciences, Medical biotechnology, Biomedical engineering

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/8p97n39f

المؤلفون: Kwan, Antonia, Abraham, Roshini S, Currier, Robert, Brower, Amy, Andruszewski, Karen, Abbott, Jordan K, Baker, Mei, Ballow, Mark, Bartoshesky, Louis E, Bonagura, Vincent R, Bonilla, Francisco A, Brokopp, Charles, Brooks, Edward, Caggana, Michele, Celestin, Jocelyn, Church, Joseph A, Comeau, Anne Marie, Connelly, James A, Cowan, Morton J, Cunningham-Rundles, Charlotte, Dasu, Trivikram, Dave, Nina, De La Morena, Maria T, Duffner, Ulrich, Fong, Chin-To, Forbes, Lisa, Freedenberg, Debra, Gelfand, Erwin W, Hale, Jaime E, Hanson, I Celine, Hay, Beverly N, Hu, Diana, Infante, Anthony, Johnson, Daisy, Kapoor, Neena, Kay, Denise M, Kohn, Donald B, Lee, Rachel, Lehman, Heather, Lin, Zhili, Lorey, Fred, Abdel-Mageed, Aly, Manning, Adrienne, McGhee, Sean, Moore, Theodore B, Naides, Stanley J, Notarangelo, Luigi D, Orange, Jordan S, Pai, Sung-Yun, Porteus, Matthew, Rodriguez, Ray, Romberg, Neil, Routes, John, Ruehle, Mary, Rubenstein, Arye, Saavedra-Matiz, Carlos A, Scott, Ginger, Scott, Patricia M, Secord, Elizabeth, Seroogy, Christine, Shearer, William T, Siegel, Subhadra, Silvers, Stacy K, Stiehm, E Richard, Sugerman, Robert W, Sullivan, John L, Tanksley, Susan, Tierce, Millard L, Verbsky, James, Vogel, Beth, Walker, Rosalyn, Walkovich, Kelly, Walter, Jolan E, Wasserman, Richard L, Watson, Michael S, Weinberg, Geoffrey A, Weiner, Leonard B, Wood, Heather, Yates, Anne B, Puck, Jennifer M

المصدر: JAMA. 312(7)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Public Health, Health Sciences, Infant Mortality, Pediatric, Rare Diseases, Perinatal Period - Conditions Originating in Perinatal Period, Prevention, Good Health and Well Being, Female, Humans, Incidence, Infant, Newborn, Lymphopenia, Male, Neonatal Screening, Prognosis, Receptors, Antigen, T-Cell, Retrospective Studies, Severe Combined Immunodeficiency, Survival Analysis, T-Lymphocytes, United States, Medical and Health Sciences, General & Internal Medicine, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/2qh1q6qx

المؤلفون: Dvorak, Christopher C, Cowan, Morton J, Logan, Brent R, Notarangelo, Luigi D, Griffith, Linda M, Puck, Jennifer M, Kohn, Donald B, Shearer, William T, O'Reilly, Richard J, Fleisher, Thomas A, Pai, Sung-Yun, Hanson, I Celine, Pulsipher, Michael A, Fuleihan, Ramsay, Filipovich, Alexandra, Goldman, Frederick, Kapoor, Neena, Small, Trudy, Smith, Angela, Chan, Ka-Wah, Cuvelier, Geoff, Heimall, Jennifer, Knutsen, Alan, Loechelt, Brett, Moore, Theodore, Buckley, Rebecca H

المصدر: Journal of clinical immunology. 33(7)

مصطلحات موضوعية: Humans, Severe Combined Immunodeficiency, Treatment Outcome, Hematopoietic Stem Cell Transplantation, Survival Analysis, Follow-Up Studies, Prospective Studies, Immunophenotyping, Genotype, Child, Child, Preschool, Infant, Infant, Newborn, Female, Male, Genetic Testing, Biomarkers, Genetics, Clinical Research, Transplantation, Prevention, Pediatric, Rare Diseases, Severe combined immunodeficiency, hematopoietic cell transplantation, newborn screening, Immunology

URL الوصول: https://escholarship.org/uc/item/3r5093m8

المؤلفون: Ngwube, Alexander, Hanson, I. Celine, Orange, Jordan, Rider, Nicholas L., Seeborg, Filiz, Shearer, William, Noroski, Lenora, Nicholas, Sarah, Forbes, Lisa, Leung, Kathryn, Sasa, Ghadir, Naik, Swati, Hegde, Meenakshi, Omer, Bilal, Ahmed, Nabil, Allen, Carl, Gottschalk, Stephen, Wu, Meng-Fen, Liu, Hao, Brenner, Malcolm, Heslop, Helen, Krance, Robert, Martinez, Caridad ^*

المصدر: In Biology of Blood and Marrow Transplantation March 2018 24(3):537-541

المؤلفون: Naik, Swati ^∗, Nicholas, Sarah K. ^∗, Martinez, Caridad A., Leen, Ann M., Hanley, Patrick J., Gottschalk, Steven M., Rooney, Cliona M., Hanson, I. Celine, Krance, Robert A., Shpall, Elizabeth J., Cruz, Conrad R., Amrolia, Persis, Lucchini, Giovanna, Bunin, Nancy, Heimall, Jennifer, Klein, Orly R., Gennery, Andrew R., Slatter, Mary A., Vickers, Mark A., Orange, Jordan S., Heslop, Helen E., Bollard, Catherine M., Keller, Michael D.

المصدر: In The Journal of Allergy and Clinical Immunology May 2016 137(5):1498-1505

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