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1دورية أكاديمية
المؤلفون: Barzaghi, F, Hernandez, LCA, Neven, B, Ricci, S, Kucuk, ZY, Bleesing, JJ, Nademi, Z, Slatter, MA, Ulloa, ER, Shcherbina, A, Roppelt, A, Worth, A, Silva, J, Aiuti, A, Murguia-Favela, L, Speckmann, C, Carneiro-Sampaio, M, Fernandes, JF, Baris, S, Ozen, A, Karakoc-Aydiner, E, Kiykim, A, Schulz, A, Steinmann, S, Notarangelo, LD, Gambineri, E, Lionetti, P, Shearer, WT, Forbes, LR, Martinez, C, Moshous, D, Blanche, S, Fisher, A, Ruemmele, FM, Tissandier, C, Ouachee-Chardin, M, Rieux-Laucat, F, Cavazzana, M, Qasim, W, Lucarelli, B, Albert, MH, Kobayashi, I, Alonso, L, De Heredia, CD, Kanegane, H, Lawitschka, A, Seo, JJ, Gonzalez-Vicent, M, Diaz, MA, Goyal, RK, Sauer, MG, Yesilipek, A, Kim, M, Yilmaz-Demirdag, Y, Bhatia, M, Khlevner, J, Padilla, EJR, Martino, S, Montin, D, Neth, O, Molinos-Quintana, A, Valverde-Fernandez, J, Broides, A, Pinsk, V, Ballauf, A, Haerynck, F, Bordon, V, Dhooge, C, Garcia-Lloret, ML, Bredius, RG, Kawak, K, Haddad, E, Seidel, MG, Duckers, G, Pai, S-Y, Dvorak, CC, Ehl, S, Locatelli, F, Goldman, F, Gennery, AR, Cowan, MJ, Roncarolo, M-G, Bacchetta, R
المصدر: Journal of Allergy and Clinical Immunology , 141 (3) 1036-1049.e5. (2018)
مصطلحات موضوعية: IPEX, primary immune deficiency, FOXP3, Treg cells, hematopoietic stem cell, transplantation, immunosuppression, rapamycin, enteropathy, neonatal diabetes, genetic autoimmunity
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10047458/1/1-s2.0-S0091674917318936-main.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10047458Test/
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2دورية أكاديمية
المؤلفون: Slack, J, Albert, MH, Balashov, D, Belohradsky, BH, Bertaina, A, Bleesing, J, Booth, C, Buechner, J, Buckley, RH, Ouachée-Chardin, M, Deripapa, E, Drabko, K, Eapen, M, Feuchtinger, T, Finocchi, A, Gaspar, HB, Ghosh, S, Gillio, A, Gonzalez-Granado, LI, Grunebaum, E, Güngör, T, Heilmann, C, Helminen, M, Higuchi, K, Imai, K, Kalwak, K, Kanazawa, N, Karasu, G, Kucuk, ZY, Laberko, A, Lange, A, Mahlaoui, N, Meisel, R, Moshous, D, Muramatsu, H, Parikh, S, Pasic, S, Schmid, I, Schuetz, C, Schulz, A, Schultz, KR, Shaw, PJ, Slatter, MA, Sykora, K-W, Tamura, S, Taskinen, M, Wawer, A, Wolska-Kus Nierz, B, Cowan, MJ, Fischer, A, Gennery, AR
المصدر: Journal of Allergy and Clinical Immunology , 141 (1) 322-328.e10. (2018)
مصطلحات موضوعية: Ataxia-telangiectasia, Cernunnos-XLF deficiency, DNA ligase IV deficiency, DNA repair disorders, Nijmegen breakage syndrome, hematopoietic stem cell transplantation
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/1552326/1/Gaspar_outcome%20of%20hematopoietic%20cell.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1552326Test/
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3دورية أكاديمية
المؤلفون: Coulter, TI, Chandra, A, Bacon, CM, Babar, J, Curtis, J, Screaton, N, Goodlad, JR, Farmer, G, Steele, CL, Leahy, TR, Doffinger, R, Baxendale, H, Bernatoniene, J, Edgar, JD, Longhurst, HJ, Ehl, S, Speckmann, C, Grimbacher, B, Sediva, A, Milota, T, Faust, SN, Williams, AP, Hayman, G, Kucuk, ZY, Hague, R, French, P, Brooker, R, Forsyth, P, Herriot, R, Cancrini, C, Palma, P, Ariganello, P, Conlon, N, Feighery, C, Gavin, PJ, Jones, A, Imai, K, Ibrahim, MA, Markelj, G, Abinun, M, Rieux-Laucat, F, Latour, S, Pellier, I, Fischer, A, Touzot, F, Casanova, JL, Durandy, A, Burns, SO, Savic, S, Kumararatne, DS, Moshous, D, Kracker, S, Vanhaesebroeck, B, Okkenhaug, K, Picard, C, Nejentsev, S, Condliffe, AM, Cant, AJ
المصدر: J Allergy Clin Immunol (2016)
مصطلحات موضوعية: Activated phosphoinositide 3-kinase δ syndrome, PIK3CD gene, bronchiectasis, hematopoietic stem cell transplantation, immunodeficiency, p110δ-activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency, phosphoinositide 3-kinase inhibitor, phosphoinositide 3-kinase δ
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/1508831/1/1-s2.0-S0091674916306236-main.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1508831Test/
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4دورية أكاديمية
المؤلفون: Coulter, TI, Chandra, A, Bacon, CM, Babar, J, Curtis, J, Screaton, N, Goodlad, JR, Farmer, G, Steele, CL, Leahy, TR, Doffinger, R, Baxendale, H, Bernatoniene, J, Edgar, JD, Longhurst, HJ, Ehl, S, Speckmann, C, Grimbacher, B, Sediva, A, Milota, T, Faust, SN, Williams, AP, Hayman, G, Kucuk, ZY, Hague, R, French, P, Brooker, R, Forsyth, P, Herriot, R, Cancrini, C, Palma, P, Ariganello, P, Conlon, N, Feighery, C, Gavin, PJ, Jones, A, Imai, K, Ibrahim, MA, Markelj, G, Abinun, M, Rieux-Laucat, F, Latour, S, Pellier, I, Fischer, A, Touzot, F, Casanova, JL, Durandy, A, Burns, SO, Savic, S, Kumararatne, DS, Moshous, D, Kracker, S, Vanhaesebroeck, B, Okkenhaug, K, Picard, C, Nejentsev, S, Condliffe, AM, Cant, AJ
وصف الملف: text
العلاقة: https://eprints.whiterose.ac.uk/104289/7/1-s2.0-S0091674916306236-main.pdfTest; Coulter, TI, Chandra, A, Bacon, CM et al. (55 more authors) (2017) Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study. Journal of Allergy and Clinical Immunology, 139 (2). pp. 597-606. ISSN 0091-6749
الإتاحة: https://doi.org/10.1016/j.jaci.2016.06.021Test
https://eprints.whiterose.ac.uk/104289Test/
https://eprints.whiterose.ac.uk/104289/7/1-s2.0-S0091674916306236-main.pdfTest -
5دورية أكاديمية
المؤلفون: Slack J., Albert M. H., Balashov D., Belohradsky B. H., Bertaina A., Bleesing J., Booth C., Buechner J., Buckley R. H., Ouachee-Chardin M., Deripapa E., Drabko K., Eapen M., Feuchtinger T., Finocchi A., Gaspar H. B., Ghosh S., Gillio A., Gonzalez-Granado L. I., Grunebaum E., Gungor T., Heilmann C., Helminen M., Higuchi K., Imai K., Kalwak K., Kanazawa N., Karasu G., Kucuk Z. Y., Laberko A., Lange A., Mahlaoui N., Meisel R., Moshous D., Muramatsu H., Parikh S., Pasic S., Schmid I., Schuetz C., Schulz A., Schultz K. R., Shaw P. J., Slatter M. A., Sykora K. -W., Tamura S., Taskinen M., Wawer A., Wolska-Kusnierz B., Cowan M. J., Fischer A., Gennery A. R.
المساهمون: Slack, J, Albert, Mh, Balashov, D, Belohradsky, Bh, Bertaina, A, Bleesing, J, Booth, C, Buechner, J, Buckley, Rh, Ouachee-Chardin, M, Deripapa, E, Drabko, K, Eapen, M, Feuchtinger, T, Finocchi, A, Gaspar, Hb, Ghosh, S, Gillio, A, Gonzalez-Granado, Li, Grunebaum, E, Gungor, T, Heilmann, C, Helminen, M, Higuchi, K, Imai, K, Kalwak, K, Kanazawa, N, Karasu, G, Kucuk, Zy, Laberko, A, Lange, A, Mahlaoui, N, Meisel, R, Moshous, D, Muramatsu, H, Parikh, S, Pasic, S, Schmid, I, Schuetz, C, Schulz, A, Schultz, Kr, Shaw, Pj, Slatter, Ma, Sykora, K-, Tamura, S, Taskinen, M, Wawer, A, Wolska-Kusnierz, B, Cowan, Mj, Fischer, A, Gennery, Ar
مصطلحات موضوعية: Ataxia-telangiectasia, Cernunnos-XLF deficiency, DNA ligase IV deficiency, DNA repair disorder, Nijmegen breakage syndrome, hematopoietic stem cell transplantation, Adolescent, Allele, Child, Preschool, DNA Repair-Deficiency Disorder, Female, Follow-Up Studie, Graft vs Host Disease, Human, Infant, Kaplan-Meier Estimate, Male, Mutation, Prognosi, Treatment Outcome, Virus Disease, Young Adult, DNA Breaks, Double-Stranded, DNA Repair, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/28392333; info:eu-repo/semantics/altIdentifier/wos/WOS:000419312200037; volume:141; issue:1; firstpage:322; lastpage:328.e10; journal:THE JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY; http://hdl.handle.net/2108/233839Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85018987484