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1دورية أكاديمية
المؤلفون: Lin, Howard, Scull, Brooks P, Goldberg, Baruch R, Abhyankar, Harshal A, Eckstein, Olive S, Zinn, Daniel J, Lubega, Joseph, Agrusa, Jennifer, El-Mallawanay, Nader K, Gulati, Nitya, Forbes, Lisa R, Chinn, Ivan K, Chakraborty, Rikhia, Velazquez, Jessica, Goldman, Jordana, Bashir, Dalia A, Lam, Fong Wilson, Muscal, Eyal, Henry, Michael M, Greenberg, Jay, Ladisch, Stephan, Hermiston, Michelle L, Meyer, Lauren K, Jeng, Michael Raymond, Naqvi, Ahmed, McClain, Kenneth L, Nguyen, Trung, Wong, Hector R, Man, Tsz-Kwong, Jordan, Michael B, Allen, Carl E
المصدر: Blood Advances. 5(17)
مصطلحات موضوعية: Pediatric, Infectious Diseases, Rare Diseases, Hematology, Clinical Research, Sepsis, Detection, screening and diagnosis, 2.1 Biological and endogenous factors, Aetiology, 4.1 Discovery and preclinical testing of markers and technologies, Inflammatory and immune system, Child, Diagnosis, Differential, Humans, Interferon-gamma, Lymphohistiocytosis, Hemophagocytic, Proteome, Systemic Inflammatory Response Syndrome
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/4617m929Test
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2دورية أكاديمية
المؤلفون: Dorsey, Morna J, Wright, Nicola AM, Chaimowitz, Natalia S, Dávila Saldaña, Blachy J, Miller, Holly, Keller, Michael D, Thakar, Monica S, Shah, Ami J, Abu-Arja, Rolla, Andolina, Jeffrey, Aquino, Victor, Barnum, JL, Bednarski, Jeffrey J, Bhatia, Monica, Bonilla, Francisco A, Butte, Manish J, Bunin, Nancy J, Chandra, Sharat, Chaudhury, Sonali, Chen, Karin, Chong, Hey, Cuvelier, Geoffrey DE, Dalal, Jignesh, DeFelice, Magee L, DeSantes, Kenneth B, Forbes, Lisa R, Gillio, Alfred, Goldman, Fred, Joshi, Avni Y, Kapoor, Neena, Knutsen, Alan P, Kobrynski, Lisa, Lieberman, Jay A, Leiding, Jennifer W, Oshrine, Benjamin, Patel, Kiran P, Prockop, Susan, Quigg, Troy C, Quinones, Ralph, Schultz, Kirk R, Seroogy, Christine, Shyr, David, Siegel, Subhadra, Smith, Angela R, Torgerson, Troy R, Vander Lugt, Mark T, Yu, Lolie C, Cowan, Morton J, Buckley, Rebecca H, Dvorak, Christopher C, Griffith, Linda M, Haddad, Elie, Kohn, Donald B, Logan, Brent, Notarangelo, Luigi D, Pai, Sung-Yun, Puck, Jennifer, Pulsipher, Michael A, Heimall, Jennifer
المصدر: Journal of clinical immunology. 41(1)
مصطلحات موضوعية: Humans, Severe Combined Immunodeficiency, Disease Susceptibility, Neonatal Screening, Prognosis, Antibiotic Prophylaxis, Hematopoietic Stem Cell Transplantation, Age of Onset, Infection Control, Infant, Infant, Newborn, Disease Management, Female, Male, Public Health Surveillance, Time-to-Treatment, Surveys and Questionnaires, Clinical Decision-Making, Infections, hematopoietic stem cell transplant, newborn screening, primary immunodeficiency, prophylaxis, severe combined immunodeficiency, Stem Cell Research, Perinatal Period - Conditions Originating in Perinatal Period, Pediatric, Prevention, Regenerative Medicine, Transplantation, Infant Mortality, Health Services, Clinical Research, Infection, Immunology
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/9rb2q0qsTest
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3دورية أكاديمية
المؤلفون: Chan, Alice Y, Leiding, Jennifer W, Liu, Xuerong, Logan, Brent R, Burroughs, Lauri M, Allenspach, Eric J, Skoda-Smith, Suzanne, Uzel, Gulbu, Notarangelo, Luigi D, Slatter, Mary, Gennery, Andrew R, Smith, Angela R, Pai, Sung-Yun, Jordan, Michael B, Marsh, Rebecca A, Cowan, Morton J, Dvorak, Christopher C, Craddock, John A, Prockop, Susan E, Chandrakasan, Shanmuganathan, Kapoor, Neena, Buckley, Rebecca H, Parikh, Suhag, Chellapandian, Deepak, Oshrine, Benjamin R, Bednarski, Jeffrey J, Cooper, Megan A, Shenoy, Shalini, Davila Saldana, Blachy J, Forbes, Lisa R, Martinez, Caridad, Haddad, Elie, Shyr, David C, Chen, Karin, Sullivan, Kathleen E, Heimall, Jennifer, Wright, Nicola, Bhatia, Monica, Cuvelier, Geoffrey DE, Goldman, Frederick D, Meyts, Isabelle, Miller, Holly K, Seidel, Markus G, Vander Lugt, Mark T, Bacchetta, Rosa, Weinacht, Katja G, Andolina, Jeffrey R, Caywood, Emi, Chong, Hey, de la Morena, Maria Teresa, Aquino, Victor M, Shereck, Evan, Walter, Jolan E, Dorsey, Morna J, Seroogy, Christine M, Griffith, Linda M, Kohn, Donald B, Puck, Jennifer M, Pulsipher, Michael A, Torgerson, Troy R
مصطلحات موضوعية: Animals, Humans, Treatment Outcome, Hematopoietic Stem Cell Transplantation, Adolescent, Adult, Middle Aged, Child, Child, Preschool, Infant, T-Lymphocytes, Regulatory, Young Adult, Surveys and Questionnaires, Primary Immunodeficiency Diseases, autoimmunity, genetics, hematopoietic cell transplant, immune dysregulation, primary immune deficiencies, Clinical Research, Rare Diseases, Transplantation, 5.2 Cellular and gene therapies, Development of treatments and therapeutic interventions, Inflammatory and immune system, Immunology, Medical Microbiology
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/1qm8w16wTest
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4دورية أكاديمية
المؤلفون: Marsh, Rebecca A, Leiding, Jennifer W, Logan, Brent R, Griffith, Linda M, Arnold, Danielle E, Haddad, Elie, Falcone, E Liana, Yin, Ziyan, Patel, Kadam, Arbuckle, Erin, Bleesing, Jack J, Sullivan, Kathleen E, Heimall, Jennifer, Burroughs, Lauri M, Skoda-Smith, Suzanne, Chandrakasan, Shanmuganathan, Yu, Lolie C, Oshrine, Benjamin R, Cuvelier, Geoffrey DE, Thakar, Monica S, Chen, Karin, Teira, Pierre, Shenoy, Shalini, Phelan, Rachel, Forbes, Lisa R, Chellapandian, Deepak, Dávila Saldaña, Blachy J, Shah, Ami J, Weinacht, Katja G, Joshi, Avni, Boulad, Farid, Quigg, Troy C, Dvorak, Christopher C, Grossman, Debi, Torgerson, Troy, Graham, Pamela, Prasad, Vinod, Knutsen, Alan, Chong, Hey, Miller, Holly, de la Morena, M Teresa, DeSantes, Kenneth, Cowan, Morton J, Notarangelo, Luigi D, Kohn, Donald B, Stenger, Elizabeth, Pai, Sung-Yun, Routes, John M, Puck, Jennifer M, Kapoor, Neena, Pulsipher, Michael A, Malech, Harry L, Parikh, Suhag, Kang, Elizabeth M, submitted on behalf of the Primary Immune Deficiency Treatment Consortium
المصدر: Journal of clinical immunology. 39(7)
مصطلحات موضوعية: submitted on behalf of the Primary Immune Deficiency Treatment Consortium, Neutrophils, Transplantation Chimera, Humans, Inflammatory Bowel Diseases, Granulomatous Disease, Chronic, Graft vs Host Disease, Leukocyte Count, Prognosis, Treatment Outcome, Hematopoietic Stem Cell Transplantation, Transplantation, Homologous, Severity of Illness Index, Incidence, Retrospective Studies, Adolescent, Adult, Child, Child, Preschool, Infant, Female, Male, Young Adult, Allogeneic hematopoietic cell transplantation, allogeneic bone marrow transplantation, allogeneic hematopoietic stem cell transplantation, chronic granulomatous disease, inflammatory bowel disease, primary immunodeficiency, Autoimmune Disease, Inflammatory Bowel Disease, Digestive Diseases, Rare Diseases, Clinical Research, Transplantation, Oral and gastrointestinal, Immunology
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/4cj1m3zgTest
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5دورية أكاديمية
المؤلفون: Barzaghi, Federica, Amaya Hernandez, Laura Cristina, Neven, Benedicte, Ricci, Silvia, Kucuk, Zeynep Yesim, Bleesing, Jack J, Nademi, Zohreh, Slatter, Mary Anne, Ulloa, Erlinda Rose, Shcherbina, Anna, Roppelt, Anna, Worth, Austen, Silva, Juliana, Aiuti, Alessandro, Murguia-Favela, Luis, Speckmann, Carsten, Carneiro-Sampaio, Magda, Fernandes, Juliana Folloni, Baris, Safa, Ozen, Ahmet, Karakoc-Aydiner, Elif, Kiykim, Ayca, Schulz, Ansgar, Steinmann, Sandra, Notarangelo, Lucia Dora, Gambineri, Eleonora, Lionetti, Paolo, Shearer, William Thomas, Forbes, Lisa R, Martinez, Caridad, Moshous, Despina, Blanche, Stephane, Fisher, Alain, Ruemmele, Frank M, Tissandier, Come, Ouachee-Chardin, Marie, Rieux-Laucat, Frédéric, Cavazzana, Marina, Qasim, Waseem, Lucarelli, Barbarella, Albert, Michael H, Kobayashi, Ichiro, Alonso, Laura, Diaz De Heredia, Cristina, Kanegane, Hirokazu, Lawitschka, Anita, Seo, Jong Jin, Gonzalez-Vicent, Marta, Diaz, Miguel Angel, Goyal, Rakesh Kumar, Sauer, Martin G, Yesilipek, Akif, Kim, Minsoo, Yilmaz-Demirdag, Yesim, Bhatia, Monica, Khlevner, Julie, Richmond Padilla, Erick J, Martino, Silvana, Montin, Davide, Neth, Olaf, Molinos-Quintana, Agueda, Valverde-Fernandez, Justo, Broides, Arnon, Pinsk, Vered, Ballauf, Antje, Haerynck, Filomeen, Bordon, Victoria, Dhooge, Catharina, Garcia-Lloret, Maria Laura, Bredius, Robbert G, Kałwak, Krzysztof, Haddad, Elie, Seidel, Markus Gerhard, Duckers, Gregor, Pai, Sung-Yun, Dvorak, Christopher C, Ehl, Stephan, Locatelli, Franco, Goldman, Frederick, Gennery, Andrew Richard, Cowan, Mort J, Roncarolo, Maria-Grazia, Bacchetta, Rosa, Primary Immune Deficiency Treatment Consortium (PIDTC) and the Inborn Errors Working Party (IEWP) of the European Society for Blood and Marrow Transplantation (EBMT)
المصدر: The Journal of allergy and clinical immunology. 141(3)
مصطلحات موضوعية: Primary Immune Deficiency Treatment Consortium (PIDTC) and the Inborn Errors Working Party (IEWP) of the European Society for Blood and Marrow Transplantation, Humans, Genetic Diseases, X-Linked, Diabetes Mellitus, Type 1, Immune System Diseases, Diarrhea, Disease-Free Survival, Hematopoietic Stem Cell Transplantation, Survival Rate, Retrospective Studies, Follow-Up Studies, Mutation, Adolescent, Adult, Child, Child, Preschool, Infant, Female, Male, Forkhead Transcription Factors, Allografts, Immunosuppression Therapy, FOXP3, IPEX, Treg cells, enteropathy, genetic autoimmunity, hematopoietic stem cell transplantation, immunosuppression, neonatal diabetes, primary immune deficiency, rapamycin, Clinical Research, Stem Cell Research, Regenerative Medicine, Pediatric, Genetics, Transplantation, Aetiology, 2.1 Biological and endogenous factors, Immunology, Allergy
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/56g0d17dTest
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6دورية أكاديمية
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
الوصول الحر: https://escholarship.org/uc/item/8188960dTest
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7دورية أكاديمية
المؤلفون: Forbes, Lisa R., Eckstein, Olive S., Gulati, Nitya, Peckham-Gregory, Erin C., Ozuah, Nmazuo W., Lubega, Joseph, El-Mallawany, Nader K., Agrusa, Jennifer, Poli, M. Cecilia, Vogel, Tiphanie P., Chaimowitz, Natalia S., Rider, Nicholas L., Mace, Emily M., Orange, Jordan S., Caldwell, Jason W., Aldave-Becerra, Juan C., Jolles, Stephen, Saettini, Francesco, Chong, Hey J., Stray-Pedersen, Asbjorg, Heslop, Helen E., Kamdar, Kala Y., Rouce, R. Helen, Muzny, Donna M., Jhangiani, Shalini N., Gibbs, Richard A., Coban-Akdemir, Zeynep H., Lupski, James R., McClain, Kenneth L., Allen, Carl E., Chinn, Ivan K.
وصف الملف: application/pdf
العلاقة: https://orca.cardiff.ac.uk/id/eprint/143141/1/1-s2.0-S0091674921011350-main.pdfTest; Forbes, Lisa R., Eckstein, Olive S., Gulati, Nitya, Peckham-Gregory, Erin C., Ozuah, Nmazuo W., Lubega, Joseph, El-Mallawany, Nader K., Agrusa, Jennifer, Poli, M. Cecilia, Vogel, Tiphanie P., Chaimowitz, Natalia S., Rider, Nicholas L., Mace, Emily M., Orange, Jordan S., Caldwell, Jason W., Aldave-Becerra, Juan C., Jolles, Stephen https://orca.cardiff.ac.uk/view/cardiffauthors/A076912M.htmlTest, Saettini, Francesco, Chong, Hey J., Stray-Pedersen, Asbjorg, Heslop, Helen E., Kamdar, Kala Y., Rouce, R. Helen, Muzny, Donna M., Jhangiani, Shalini N., Gibbs, Richard A., Coban-Akdemir, Zeynep H., Lupski, James R., McClain, Kenneth L., Allen, Carl E. and Chinn, Ivan K. 2022. Genetic errors of immunity distinguish pediatric non-malignant lymphoproliferative disorders. Journal of Allergy and Clinical Immunology 149 (2) , pp. 758-766. 10.1016/j.jaci.2021.07.015 https://doi.org/10.1016/j.jaci.2021.07.015Test file https://orca.cardiff.ac.uk/id/eprint/143141/1/1-s2.0-S0091674921011350-main.pdfTest
الإتاحة: https://doi.org/10.1016/j.jaci.2021.07.015Test
https://orca.cardiff.ac.uk/id/eprint/143141Test/
https://orca.cardiff.ac.uk/id/eprint/143141/1/1-s2.0-S0091674921011350-main.pdfTest -
8دورية أكاديمية
المؤلفون: Arnold, Danielle E., Parikh, Suhag, Logan, Brent, Marsh, Rebecca, Griffith, Linda M., Wu, Ruizhe, Mallhi, Kanwaldeep, Chellapandian, Deepak, Si, Stephanie, Grunebaum, Eyal, Broglie, Larisa, Prasad, Vinod K., Heimall, Jennifer, Bunin, Nancy J., Teira, Pierre, Touzot, Fabien, Burroughs, Lauri M., Petrovic, Aleksandra, Bleesing, Jack J., Chandra, Sharat, Kapoor, Neena, Dara, Jasmeen, Dorsey, Morna, Williams, Olatundun, Kapadia, Malika, Bednarski, Jeffrey, Rayes, Ahmad, Chen, Karin, Chong, Hey, Cuvelier, Geoff D.E., Forbes, Lisa R., Martinez, Caridad, Vander Lugt, Mark T., Yu, Lolie C., Chandrakasan, Shanmuganathan, Joshi, Avni, Prockop, Susan E., Davila Saldana, Blachy J., Aquino, Victor, Ebens, Christen L., Madden, Lisa, DeSantes, Kenneth, Milner, Jordan, Rangarajan, Hemalatha G., Shah, Ami J, Gillio, Alfred P., Knutsen, Alan P., Miller, Holly K., Moore, Theodore B., Wright, Nicola
المصدر: Transplantation and Cellular Therapy ; volume 28, issue 3, page S101-S103 ; ISSN 2666-6367
مصطلحات موضوعية: Transplantation, Cell Biology, Hematology, Molecular Medicine, Immunology and Allergy
الإتاحة: https://doi.org/10.1016/s2666-6367Test(22)00286-x
https://api.elsevier.com/content/article/PII:S266663672200286X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S266663672200286X?httpAccept=text/plainTest -
9دورية أكاديمية
المؤلفون: Watkin, Levi B, Jessen, Birthe, Wiszniewski, Wojciech, Vece, Timothy J, Jan, Max, Sha, Youbao, Thamsen, Maike, Santos-Cortez, Regie LP, Lee, Kwanghyuk, Gambin, Tomasz, Forbes, Lisa R, Law, Christopher S, Stray-Pedersen, Asbjørg, Cheng, Mickie H, Mace, Emily M, Anderson, Mark S, Liu, Dongfang, Tang, Ling Fung, Nicholas, Sarah K, Nahmod, Karen, Makedonas, George, Canter, Debra L, Kwok, Pui-Yan, Hicks, John, Jones, Kirk D, Penney, Samantha, Jhangiani, Shalini N, Rosenblum, Michael D, Dell, Sharon D, Waterfield, Michael R, Papa, Feroz R, Muzny, Donna M, Zaitlen, Noah, Leal, Suzanne M, Gonzaga-Jauregui, Claudia, Boerwinkle, Eric, Eissa, N Tony, Gibbs, Richard A, Lupski, James R, Orange, Jordan S, Shum, Anthony K
المصدر: Nature Genetics. 47(6)
مصطلحات موضوعية: Biochemistry and Cell Biology, Biological Sciences, Autoimmune Disease, Lung, Arthritis, Genetics, 2.1 Biological and endogenous factors, Aetiology, Inflammatory and immune system, Amino Acid Sequence, Autoimmune Diseases, Child, Preschool, Coatomer Protein, Endoplasmic Reticulum, Endoplasmic Reticulum Stress, Female, Genetic Association Studies, Genetic Predisposition to Disease, Golgi Apparatus, HEK293 Cells, Humans, Infant, Lod Score, Lung Diseases, Interstitial, Male, Molecular Sequence Data, Pedigree, Protein Transport, Baylor-Hopkins Center for Mendelian Genomics, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/8w121536Test
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10دورية أكاديمية
المؤلفون: McAtee, Casey Lee, Lubega, Joseph, Underbrink, Kristen, Curry, Kristen, Msaouel, Pavlos, Barrow, Martha, Muscal, Eyal, Lotze, Timothy, Srivaths, Poyyapakkam, Forbes, Lisa R., Allen, Carl, Bernhardt, M. Brooke
المصدر: JAMA Network Open ; volume 4, issue 2, page e2036321 ; ISSN 2574-3805
الإتاحة: https://doi.org/10.1001/jamanetworkopen.2020.36321Test
https://jamanetwork.com/journals/jamanetworkopen/articlepdf/2775825/mcatee_2021_oi_201086_1614014610.79044.pdfTest