المؤلفون: Slack, James, Albert, Michael H, Balashov, Dmitry, Belohradsky, Bernd H, Bertaina, Alice, Bleesing, Jack, Booth, Claire, Buechner, Jochen, Buckley, Rebecca H, Ouachée-Chardin, Marie, Deripapa, Elena, Drabko, Katarzyna, Eapen, Mary, Feuchtinger, Tobias, Finocchi, Andrea, Gaspar, H Bobby, Ghosh, Sujal, Gillio, Alfred, Gonzalez-Granado, Luis I, Grunebaum, Eyal, Güngör, Tayfun, Heilmann, Carsten, Helminen, Merja, Higuchi, Kohei, Imai, Kohsuke, Kalwak, Krzysztof, Kanazawa, Nubuo, Karasu, Gülsün, Kucuk, Zeynep Y, Laberko, Alexandra, Lange, Andrzej, Mahlaoui, Nizar, Meisel, Roland, Moshous, D, Muramatsu, Hideki, Parikh, Suhag, Pasic, Srdjan, Schmid, Irene, Schuetz, Catharina, Schulz, Ansgar, Schultz, Kirk R, Shaw, Peter J, Slatter, Mary A, Sykora, Karl-Walter, Tamura, Shinobu, Taskinen, Mervi, Wawer, Angela, Wolska-Kuśnierz, Beata, Cowan, Morton J, Fischer, Alain, Gennery, Andrew R

المصدر: Journal of Allergy and Clinical Immunology. 141(1)

مصطلحات موضوعية: Rare Diseases, Transplantation, Hematology, Genetics, Cancer, Pediatric, Adolescent, Alleles, Child, Child, Preschool, DNA Breaks, Double-Stranded, DNA Repair, DNA Repair-Deficiency Disorders, Female, Follow-Up Studies, Graft vs Host Disease, Hematopoietic Stem Cell Transplantation, Humans, Infant, Kaplan-Meier Estimate, Male, Mutation, Prognosis, Treatment Outcome, Virus Diseases, Young Adult, Ataxia-telangiectasia, Cernunnos-XLF deficiency, DNA repair disorders, DNA ligase IV deficiency, hematopoietic stem cell transplantation, Nijmegen breakage syndrome, Inborn Errors Working Party of the European Society for Blood and Marrow Transplantation and the European Society for Immunodeficiencies, Stem Cell Transplant for Immunodeficiencies in Europe, Center for International Blood and Marrow Transplant Research, Primary Immunodeficiency Treatment Consortium, Immunology, Allergy

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/3dv35396Test

المؤلفون: Graf, Anna, Hartl, Dominik, Urschel, Simon, Belohradsky, Bernd H., Liese, Johannes, Rieber, Nikolaus

الوصول الحر: https://www.europeana.eu/item/2048441/item_EKIFR4YQKOEF33FE3URZJWKMH3NPY5NZ?utm_source=api&utm_medium=api&utm_campaign=YuvuWBeCaTest

المؤلفون: Hoffmann, Florian, Albert, Michael H., Arenz, Stephan, Bidlingmaier, Christoph, Berkowicz, Nadine, Sedlaczek, Sabine, Till, Holger, Pawlita, Ingo, Renner, Ellen, Weiss, Michael, Belohradsky, Bernd H.

العلاقة: https://opus.bibliothek.uni-augsburg.de/opus4/frontdoor/index/index/docId/111021Test

الإتاحة: https://opus.bibliothek.uni-augsburg.de/opus4/frontdoor/index/index/docId/111021Test

المؤلفون: Stojanov, Silvia, Hoffmann, Florian, Kéry, Anja, Renner, Ellen, Hartl, Dominik, Lohse, Peter, Huss, Kristina, Fraunberger, Peter, Malley, James D., Zellerer, Stephanie, Albert, Michael H., Belohradsky, Bernd H.

العلاقة: https://opus.bibliothek.uni-augsburg.de/opus4/frontdoor/index/index/docId/110957Test

الإتاحة: https://opus.bibliothek.uni-augsburg.de/opus4/frontdoor/index/index/docId/110957Test

المؤلفون: Slack, James, Albert, Michael H., Balashov, Dmitry, Belohradsky, Bernd H., Bertaina, Alice, Bleesing, Jack, Booth, Claire, Buechner, Jochen, Buckley, Rebecca H., Ouachee-Chardin, Marie, Deripapa, Elena, Drabko, Katarzyna, Eapen, Mary, Feuchtinger, Tobias, Finocchi, Andrea, Gaspar, H. Bobby, Ghosh, Sujal, Gillio, Alfred, Gonzalez-Granado, Luis I., Grunebaum, Eyal, Gungor, Tayfun, Heilmann, Carsten, Helminen, Merja, Higuchi, Kohei, Imai, Kohsuke, Kalwak, Krzysztof, Kanazawa, Nubuo, Karasu, Gulsun, Kucuk, Zeynep Y., Laberko, Alexandra, Lange, Andrzej, Mahlaoui, Nizar, Meisel, Roland, Moshous, D., Muramatsu, Hideki, Parikh, Suhag, Pasic, Srdjan, Schmid, Irene, Schuetz, Catharina, Schulz, Ansgar, Schultz, Kirk R., Shaw, Peter J., Slatter, Mary A., Sykora, Karl-Walter, Tamura, Shinobu, Taskinen, Mervi, Wawer, Angela, Wolska-Kusnierz, Beata, Cowan, Morton J., Fischer, Alain, European Soc Blood Marrow, European Soc Immunodeficiencies, Stem Cell Transplant, Ctr Int Blood Marrow, Primary Immunodeficiency Treatment

المساهمون: Lastentautien yksikkö, Children's Hospital, Clinicum, HUS Children and Adolescents, HUS Comprehensive Cancer Center

مصطلحات موضوعية: Ataxia-telangiectasia, Cernunnos-XLF deficiency, DNA repair disorders, DNA ligase IV deficiency, hematopoietic stem cell transplantation, Nijmegen breakage syndrome, SEVERE COMBINED IMMUNODEFICIENCY, LIGASE IV MUTATIONS, FANCONI-ANEMIA, MARROW TRANSPLANTATION, HYPOMORPHIC MUTATIONS, ARTEMIS, PATIENT, BLOOD, 3121 General medicine, internal medicine and other clinical medicine

وصف الملف: application/pdf

العلاقة: M.J.C. was supported by the Division of Allergy, Immunology, and Transplantation; the National Institute of Allergy and Infectious Diseases; the Intramural Research Program of the National Institute of Allergy and Infectious Diseases; and the Office of Rare Diseases Research, National Center for Advancing Translational Sciences, National Institutes of Health (U54-AI082973). M.E. was funded in part by Public Health Service grant U24-CA76518 from the National Cancer Institute; the National Heart, Lung, and Blood Institute; and the National Institute of Allergy and Infectious Diseases. L.I.G.-G. was supported by a grant from Fondo de Investigacion Sanitaria (FIS-PI16/2053). H.B.G. is supported by the Great Ormond Street Hospital Children's Charity and by the National Institute of Health Research Biomedical Research Centre at Great Ormond Street Hospital and University College London.; 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 , European Soc Blood Marrow , European Soc Immunodeficiencies , Stem Cell Transplant , Ctr Int Blood Marrow & Primary Immunodeficiency Treatment 2018 , ' Outcome of hematopoietic cell transplantation for DNA double-strand break repair disorders ' , Journal of Allergy and Clinical Immunology , vol. 141 , no. 1 , pp. 322-+ . https://doi.org/10.1016/j.jaci.2017.02.036Test; 85018987484; 184774d6-03cf-4e13-b807-2c69ec23f20d; http://hdl.handle.net/10138/298620Test; 000419312200037

الإتاحة: http://hdl.handle.net/10138/298620Test

المؤلفون: El-Helou, Sabine M., Biegner, Anika-Kerstin, Bode, Sebastian, Ehl, Stephan R., Heeg, Maximilian, Maccari, Maria E., Ritterbusch, Henrike, Speckmann, Carsten, Rusch, Stephan, Scheible, Raphael, Warnatz, Klaus, Atschekzei, Faranaz, Beider, Renata, Ernst, Diana, Gerschmann, Stev, Jablonka, Alexandra, Mielke, Gudrun, Schmidt, Reinhold E., Schürmann, Gesine, Sogkas, Georgios, Baumann, Ulrich H., Klemann, Christian, Viemann, Dorothee, Bernuth, Horst von, Krüger, Renate, Hanitsch, Leif G., Scheibenbogen, Carmen M., Wittke, Kirsten, Albert, Michael H., Eichinger, Anna, Hauck, Fabian, Klein, Christoph, Rack-Hoch, Anita, Sollinger, Franz M., Avila, Anne, Borte, Michael, Borte, Stephan, Fasshauer, Maria, Hauenherm, Anja, Kellner, Nils, Müller, Anna H., Ülzen, Anett, Bader, Peter, Bakhtiar, Shahrzad, Lee, Jae-Yun, Heß, Ursula, Schubert, Ralf, Wölke, Sandra, Zielen, Stefan, Ghosh, Sujal, Laws, Hans-Juergen, Neubert, Jennifer, Oommen, Prasad T., Hönig, Manfred, Schulz, Ansgar, Steinmann, Sandra, Klaus, Schwarz, Dückers, Gregor, Lamers, Beate, Langemeyer, Vanessa, Niehues, Tim, Shai, Sonu, Graf, Dagmar, Müglich, Carmen, Schmalzing, Marc T., Schwaneck, Eva C., Tony, Hans-Peter, Dirks, Johannes, Haase, Gabriele, Liese, Johannes G., Morbach, Henner, Foell, Dirk, Hellige, Antje, Wittkowski, Helmut, Masjosthusmann, Katja, Mohr, Michael, Geberzahn, Linda, Hedrich, Christian M., Müller, Christiane, Rösen-Wolff, Angela, Roesler, Joachim, Zimmermann, Antje, Behrends, Uta, Rieber, Nikolaus, Schauer, Uwe, Handgretinger, Rupert, Holzer, Ursula, Henes, Jörg, Kanz, Lothar, Boesecke, Christoph, Rockstroh, Jürgen K., Schwarze-Zander, Carolynne, Wasmuth, Jan-Christian, Dilloo, Dagmar, Hülsmann, Brigitte, Schönberger, Stefan, Schreiber, Stefan, Zeuner, Rainald, Ankermann, Tobias, Bismarck, Philipp von, Huppertz, Hans-Iko, Kaiser-Labusch, Petra, Greil, Johann, Jakoby, Donate, Kulozik, Andreas E., Metzler, Markus, Naumann-Bartsch, Nora, Sobik, Bettina, Graf, Norbert, Heine, Sabine, Kobbe, Robin, Lehmberg, Kai, Müller, Ingo, Herrmann, Friedrich, Horneff, Gerd, Klein, Ariane, Peitz, Joachim, Schmidt, Nadine, Bielack, Stefan, Groß-Wieltsch, Ute, Classen, Carl F., Klasen, Jessica, Deutz, Peter, Kamitz, Dirk, Lassy, Lisa, Tenbrock, Klaus, Wagner, Norbert, Bernbeck, Benedikt, Brummel, Bastian, Lara-Villacanas, Eusebia, Münstermann, Esther, Schneider, Dominik T., Tietsch, Nadine, Westkemper, Marco, Weiß, Michael, Kramm, Christof, Kühnle, Ingrid, Kullmann, Silke, Girschick, Hermann, Specker, Christof, Vinnemeier-Laubenthal, Elisabeth, Haenicke, Henriette, Schulz, Claudia, Schweigerer, Lothar, Müller, Thomas G., Stiefel, Martina, Belohradsky, Bernd H., Soetedjo, Veronika, Kindle, Gerhard, Grimbacher, Bodo

مصطلحات موضوعية: ddc:610

وصف الملف: application/pdf

العلاقة: https://opus.bibliothek.uni-wuerzburg.de/frontdoor/index/index/docId/22662Test; urn:nbn:de:bvb:20-opus-226629; https://nbn-resolving.org/urn:nbn:de:bvb:20-opus-226629Test; https://doi.org/10.3389/fimmu.2019.01272Test; https://opus.bibliothek.uni-wuerzburg.de/files/22662/fimmu-10-01272.pdfTest

الإتاحة: https://doi.org/10.3389/fimmu.2019.01272Test
https://opus.bibliothek.uni-wuerzburg.de/frontdoor/index/index/docId/22662Test
https://nbn-resolving.org/urn:nbn:de:bvb:20-opus-226629Test
https://opus.bibliothek.uni-wuerzburg.de/files/22662/fimmu-10-01272.pdfTest

المؤلفون: Neven, Benedicte, Pai, Sung-Yun, Parikh, Suhag H., Picard, Capucine, Renner, Ellen D., Sanal, Ozden, Schulz, Ansgar S., Schuster, Friedhelm, Shah, Nirali N., Shereck, Evan B., Su, Helen C., van Montfrans, Joris, Woessmann, Wilhelm, Ziegler, John B., Albert, Michael H., Ciocarlie, Oana C., Gaspar, Hubert B., Matthes, Susanne, Al-Herz, Waleed, Al-Mousa, Hamoud A., Aydin, Susanne E., Geha, Raif S., Hauck, Fabian, Hawwari, Abbas, Hickstein, Dennis D., Arnaout, Rand K., Aydin, Roland C., Ifversen, Marianne R. S., Hoenig, Manfred, Ikinciogullari, Aydan, Klein, Christoph, Barlogis, Vincent, Belohradsky, Bernd H., Bonfim, Carmem, Dogu, Figen, Bredius, Robbert G., Chu, Julia I., Kumar, Ashish, Metin, Ayse, Gennery, Andrew R., Slatter, Mary A., Freeman, Alexandra F.

العلاقة: 90781972-8763-47a7-9968-951169769925; https://avesis.hacettepe.edu.tr/publication/details/90781972-8763-47a7-9968-951169769925/oaiTest

الإتاحة: https://doi.org/10.1016/j.jaip.2018.10.035Test
https://avesis.hacettepe.edu.tr/publication/details/90781972-8763-47a7-9968-951169769925/oaiTest

المؤلفون: Welte, Tobias, Dellinger, R. Phillip, Ebelt, Henning, Ferrer, Miguel, Opal, Steven M., Singer, Mervyn, Vincent, Jean-Louis, Werdan, Karl, Martin-Loeches, Ignacio, Almirall i Pujol, Jordi, Artigas Raventós, Antoni, Ignacio Ayestarán, Jose, Nuding, Sebastian, Ferrer, Ricard, Sirgo Rodríguez, Gonzalo, Shankar-Hari, Manu, Ãlvarez Lerma, Francisco, Riessen, Reimer, Sirvent, Josep-Maria, Kluge, Stefan, Zacharowski, Kai, Bonastre Mora, Juan, Lapp, Harald, Wöbker, Gabriele, Achtzehn, Ute, Brealey, David, Kempa, Axel, Sánchez García, Miguel, Brederlau, Jörg, Kochanek, Matthias, Reschreiter, Henrik Peer, Wise, Matthew P., Belohradsky, Bernd H., Bobenhausen, Iris, Dälken, Benjamin, Dubovy, Patrick, Langohr, Patrick, Mayer, Monika, Schüttrumpf, Jörg, Wartenberg-Demand, Andrea, Wippermann, Ulrike, Wolf, Daniele, Torres, Antoni

مصطلحات موضوعية: Trimodulin, Polyclonal antibody, Severe community-acquired pneumonia, Add-on therapy, Immunoglobulin M

وصف الملف: application/pdf

العلاقة: Intensive Care Medicine; Vol. 44 (april 2018), p. 438-448; https://ddd.uab.cat/record/190777Test; urn:10.1007/s00134-018-5143-7; urn:oai:ddd.uab.cat:190777; urn:pmid:29632995; urn:pmcid:PMC5924663; urn:pmc-uid:5924663; urn:articleid:14321238v44p438; urn:scopus_id:85045110708; urn:wos_id:000431171300004; urn:altmetric_id:35963581; urn:oai:egreta.uab.cat:publications/ed516cae-c916-4240-a810-c958002b9631; urn:oai:pubmedcentral.nih.gov:5924663

الإتاحة: https://ddd.uab.cat/record/190777Test

المؤلفون: Siler, Ulrich, Romao, Susana, Tejera, Emilio, Pastukhov, Oleksandr, Kuzmenko, Elena, Valencia, Rocio G., Meda Spaccamela, Virginia, Belohradsky, Bernd H., Speer, Oliver, Schmugge, Markus, Kohne, Elisabeth, Hoenig, Manfred, Freihorst, Joachim, Schulz, Ansgar S., Reichenbach, Janine

المصدر: Journal of Allergy and Clinical Immunology ; volume 139, issue 1, page 212-219.e3 ; ISSN 0091-6749

مصطلحات موضوعية: Immunology, Immunology and Allergy

الإتاحة: https://doi.org/10.1016/j.jaci.2016.04.041Test
https://api.elsevier.com/content/article/PII:S0091674916304353?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0091674916304353?httpAccept=text/plainTest

المؤلفون: de Boer, Martin, van Leeuwen, Karin, Geissler, Judy, Belohradsky, Bernd H., Kuijpers, Taco W., Roos, Dirk

المصدر: Blood Cells, Molecules, and Diseases ; volume 66, page 50-57 ; ISSN 1079-9796

مصطلحات موضوعية: Cell Biology, Hematology, Molecular Biology, Molecular Medicine

الإتاحة: https://doi.org/10.1016/j.bcmd.2017.08.012Test
https://api.elsevier.com/content/article/PII:S1079979617302668?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1079979617302668?httpAccept=text/plainTest