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1Academic Journal
المؤلفون: Bintalib, Heba M., Ven, Annick van de, Jacob, Joseph, Davidsen, Jesper Rømhild, Fevang, Børre, Hanitsch, Leif G., Malphettes, Marion, Montfrans, Joris van, Maglione, Paul J., Milito, Cinzia, Routes, John M., Warnatz, Klaus, Hurst, John R.
المصدر: Frontiers in immunology. - 14 (2023) , 1190235, ISSN: 1664-3224
وصف الملف: pdf
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2Academic Journal
المؤلفون: Juliana, Noah, Abdelmoumen, Amir, Marsden, Jan Willem, Laclé, Miangela, Oldenburg, Bas, Montfrans, Joris Van, Ellerbroek, Pauline, Severs, Mirjam, Leavis, Helen
المصدر: Clinical Immunology ; volume 262, page 110106 ; ISSN 1521-6616
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3Conference
المؤلفون: Singh, Gurnoor, Velde, Joeri van der, Beliën, Jeroen, Böhmer, Jasmin, Stemkens, Daphne, Vissers, Lisenka, Reeuwijk, Jeroen van, Hiltemann, Saskia, Johansson, Lennart F., Stoep, Nienke van der, Sie, Daoud, Weiss, Janneke, Frederix, Geert, Roos, Marco, Iperen, Erik van, Vrijenhoek, Terry, Asselbergs, Folkert W., Montfrans, Joris van, Sijmons, Rolf, Deutekom, Hanneke van, Neerincx, Pieter, Andrade, Fernanda de, Niehues, Anna, Kerstens, Hindrik H.D., Thompson, Mark, Kaliyaperumal, Rajaram, Jacobsen, Annika, Wolstencroft, Katy, Nijman, Ies, Nelen, Marcel, Siezen, Ariaan, Hove, Koen ten, Knoers, Nine, Gilissen, Christian, Scheffer, Hans, Willems, Stefan, Zelst-Stams, Wendy van, Ijntema, Helger, Elsink, Kim, Koning, Bart de, Ylstra, Bauke, Sistermans, Erik, Kemmeren, Patrick, Holstege, Henne, Staiger, Christine, Tops, Bastiaan, Rebers, Susanne, Zessen, David van, Retèl, Valesca, Cuppen, Edwin, Tintelen, Peter van, Enckevort, David van, Steeghs, Lieneke, Scholtens, Salome, Laros, Jeroen, Mei, Leon, Oosterwijk, Cor, Stubbs, Andrew, Hoen, Peter A.C. 't, Gijn, Mariëlle van, Swertz, Morris
مصطلحات موضوعية: fair data principles, data sharing, genomics, healthcare, meta-data
Relation: https://doi.org/10.5281/zenodo.3621387; https://doi.org/10.5281/zenodo.3621388; oai:zenodo.org:3621388
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4Academic Journal
المؤلفون: Lamers, Olivia A. C., Smits, Bas M., Leavis, Helen L., Bree, Godelieve J. de, Cunningham-Rundles, Charlotte, Dalm, Virgil A. S. H., Ho, Hsi-en, Hurst, John R., IJspeert, Hanna, Prevaes, Sabine M. P. J., Robinson, Alex, Stigt, Astrid C. van, Terheggen-Lagro, Suzanne, Ven, Annick A. J. M. van de, Warnatz, Klaus, Wijgert, Janneke H. H. M. van de, Montfrans, Joris van
المصدر: Frontiers in immunology. - 12 (2021) , 606099, ISSN: 1664-3224
وصف الملف: pdf
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5Academic Journal
المؤلفون: Berbers, Roos-Marijn, Drylewicz, Julia, Ellerbroek, Pauline M., Montfrans, Joris van, Dalm, Virgil A. S. H., Hagen, P. Martin van, Keller, Bärbel, Warnatz, Klaus, Ven, Annick van de, Laar, Jaap M. van, Nierkens, Stefan, Leavis, Helen L.
المصدر: Journal of clinical immunology. - 41 (2021) , 362–373, ISSN: 1573-2592
وصف الملف: pdf
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6Academic Journal
المؤلفون: Ven, Annick van de, Alfaro, Tiago M., Robinson, Alexandra N., Baumann, Ulrich, Bergeron, Anne, Burns, Siobhan O., Condliffe, Alison M., Fevang, Børre, Gennery, Andrew R., Haerynck, Filomeen, Jacob, Joseph, Jolles, Stephen, Malphettes, Marion, Meignin, Véronique, Milota, Tomas, Montfrans, Joris van, Prasse, Antje, Quinti, Isabella, Renzoni, Elisabetta, Stolz, Daiana, Warnatz, Klaus, Hurst, John R., ERS e-GLILDnet Clinical Research Collaboration, Study Group
المصدر: Frontiers in immunology. - 11 (2020) , 606333, ISSN: 1664-3224
وصف الملف: pdf
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7Academic Journal
المؤلفون: Maccari, Maria Elena, Wolkewitz, Martin, Schwab, Charlotte, Lorenzini, Tiziana, Leiding, Jennifer W., Aladjdi, Nathalie, Abolhassani, Hassan, Abou-Chahla, Wadih, Aiuti, Alessandro, Azarnoush, Saba, Baris, Safa, Barlogis, Vincent, Barzaghi, Federica, Baumann, Ulrich, Bloomfield, Marketa, Bohynikova, Nadezda, Bodet, Damien, Boutboul, David, Bucciol, Giorgia, Buckland, Matthew S., Burns, Siobhan O., Cancrini, Caterina, Cathébras, Pascal, Cavazzana, Marina, Cheminant, Morgane, Chinello, Matteo, Ciznar, Peter, Coulter, Tanya I., D'Aveni, Maud, Ekwall, Olov, Eric, Zelimir, Eren, Efrem, Fasth, Anders, Frange, Pierre, Fournier, Benjamin, Garcia-Prat, Marina, Gardembas, Martine, Geier, Christoph, Ghosh, Sujal, Goda, Vera, Hammarström, Lennart, Hauck, Fabian, Heeg, Maximilian, Heropolitanska-Pliszka, Edyta, Hilfanova, Anna, Jolles, Stephen, Karakoc-Aydiner, Elif, Kindle, Gerhard R., Kiykim, Ayca, Klemann, Christian, Koletsi, Patra, Koltan, Sylwia, Kondratenko, Irina, Körholz, Julia, Krüger, Renate, Jeziorski, Eric, Levy, Romain, Le Guenno, Guillaume, Lefevre, Guillaume, Lougaris, Vassilios, Marzollo, Antonio, Mahlaoui, Nizar, Malphettes, Marion, Meinhardt, Andrea, Merlin, Etienne, Meyts, Isabelle, Milota, Tomas, Moreira, Fernando, Moshous, Despina, Mukhina, Anna, Neth, Olaf, Neubert, Jennifer, Neven, Benedicte, Nieters, Alexandra, Nove-Josserand, Raphaele, Oksenhendler, Eric, Ozen, Ahmet, Olbrich, Peter, Perlat, Antoinette, Pac, Malgorzata, Schmid, Jana Pachlopnik, Pacillo, Lucia, Parra-Martinez, Alba, Paschenko, Olga, Pellier, Isabelle, Sefer, Asena Pinar, Plebani, Alessandro, Plantaz, Dominique, Prader, Seraina, Raffray, Loic, Ritterbusch, Henrike, Riviere, Jacques G., Rivalta, Beatrice, Rusch, Stephan, Sakovich, Inga, Savic, Sinisa, Scheible, Raphael, Schleinitz, Nicolas, Schuetz, Catharina, Schulz, Ansgar, Sediva, Anna, Semeraro, Michaela, Sharapova, Svetlana O., Shcherbina, Anna, Slatter, Mary A., Sogkas, Georgios, Soler-Palacin, Pere, Speckmann, Carsten, Stephan, Jean-Louis, Suarez, Felipe, Tommasini, Alberto, Trück, Johannes, Uhlmann, Annette, Aerde, Koen J. van, Montfrans, Joris van, Bernuth, Horst von, Warnatz, Klaus, Williams, Tony, Worth, Austen J.J., Ip, Winnie, Picard, Capucine, Catherinot, Emilie, Nademi, Zohreh, Grimbacher, Bodo, Forbes Satter, Lisa R., Kracker, Sven, Chandra, Anita, Condliffe, Alison M., Ehl, Stephan, European Society for Immunodeficiencies Registry Working Party
Relation: Journal of Allergy and Clinical Immunology; The underlying dataset has been published as supplementary material of the article in the publisher platform at https://doi.org/10.1016/j.jaci.2023.06.015; https://doi.org/10.1016/j.jaci.2023.06.015; Sí; Journal of Allergy and Clinical Immunology 152(4): 984-996.e10 (2023); http://hdl.handle.net/10261/349312; 2-s2.0-85169451330; https://api.elsevier.com/content/abstract/scopus_id/85169451330
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8Academic Journal
المؤلفون: Maccari, Maria Elena, Abolhassani, Hassan, Aghamohammadi, Asghar, Aiuti, Alessandro, Aleinikova, Olga, Bangs, Catherine, Baris, Safa, Barzaghi, Federica, Baxendale, Helen, Buckland, Matthew, Burns, Siobhan O., Cancrini, Caterina, Cant, Andrew, Cathébras, Pascal, Cavazzana, Marina, Chandra, Anita, Conti, Francesca, Coulter, Tanya, Devlin, Lisa A., Edgar, J. David M., Faust, Saul, Fischer, Alain, Prat, Marina Garcia, Hammarström, Lennart, Heeg, Maximilian, Jolles, Stephen, Karakoc-Aydiner, Elif, Kindle, Gerhard, Kiykim, Ayca, Kumararatne, Dinakantha, Grimbacher, Bodo, Longhurst, Hilary, Mahlaoui, Nizar, Milota, Tomas, Moreira, Fernando, Moshous, Despina, Mukhina, Anna, Neth, Olaf, Neven, Benedicte, Nieters, Alexandra, Olbrich, Peter, Ozen, Ahmet, Schmid, Jana Pachlopnik, Picard, Capucine, Prader, Seraina, Rae, William, Reichenbach, Janine, Rusch, Stephan, Savic, Sinisa, Scarselli, Alessia, Scheible, Raphael, Sediva, Anna, Sharapova, Svetlana O., Shcherbina, Anna, Slatter, Mary, Soler-Palacin, Pere, Stanislas, Aurelie, Suarez, Felipe, Tucci, Francesca, Uhlmann, Annette, Montfrans, Joris van, Warnatz, Klaus, Williams, Anthony Peter, Wood, Phil, Kracker, Sven, Condliffe, Alison Mary, Ehl, Stephan
المساهمون: Immuno/reuma patientenzorg, Child Health, Infection & Immunity
مصطلحات موضوعية: Activated phosphoinositide 3-kinase δ syndrome, Natural history, PIK3CD, PIK3R1, Rapamycin, Registry, Europe, Humans, Middle Aged, Child, Preschool, Immunologic Deficiency Syndromes/drug therapy, Primary Immunodeficiency Diseases, Young Adult, Class I Phosphatidylinositol 3-Kinases, Societies, Medical, Adolescent, Adult, Registries, Immunosuppressive Agents/therapeutic use, Sirolimus/therapeutic use, activated phosphoinositide 3-kinase delta syndrome, Immunology and Allergy, Immunology, Research Support, Non-U.S. Gov't, Journal Article
وصف الملف: image/pdf
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9Book
المؤلفون: Hurst, John R., Abbas, S. Hamza, Bintalib, Heba M., Alfaro, Tiago M., Baumann, Ulrich, Burns, Siobhan O., Condliffe, Alison, Davidsen, Jesper R., Fevang, Børre, Gennery, Andrew R., Haerynck, Filomeen, Joseph, Jacob, Jolles, Stephen, Lamers, Olivia, Bergeron, Anne, Malphettes, Marion, Meignin, Véronique, Milito, Cinzia, Milota, Tomas, Pergent, Martine, Prasse, Antje, Quinti, Isabella, Renzoni, Elisabetta, Sediva, Anna, Stolz, Daiana, Smits, Bas, Strauss, Friedolin, Vab De Ven, Annick A.J.M., Montfrans, Joris van, Warnatz, Klaus
Relation: ERJ Open Research; https://publica.fraunhofer.de/handle/publica/445237
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10Academic Journal
المؤلفون: Seidel, Markus G., Kindle, Gerhard, Gathmann, Benjamin, Quinti, Isabella, Buckland, Matthew, Montfrans, Joris van, Scheible, Raphael, Rusch, Stephan, Gasteiger, Lukas M., Grimbacher, Bodo, Mahlaoui, Nizar, Ehl, Stephan
المصدر: The journal of allergy and clinical immunology. In practice. - 7, 6 (2019) , 1763-1770, ISSN: 2213-2198
مصطلحات موضوعية: Primärer Immundefekt, Einführung, Klassifikation, Konsens, Register, DEEP (Programm)
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11
المؤلفون: Maria Elena Maccari, Hassan Abolhassani, Asghar Aghamohammadi, Alessandro Aiuti, Olga Aleinikova, Catherine Bangs, Safa Baris, Federica Barzaghi, Helen Baxendale, Matthew Buckland, Siobhan O. Burns, Caterina Cancrini, Andrew Cant, Pascal Cathébras, Marina Cavazzana, Anita Chandra, Francesca Conti, Tanya Coulter, Lisa A. Devlin, J. David M. Edgar, Saul Faust, Alain Fischer, Marina Garcia Prat, Lennart Hammarström, Maximilian Heeg, Stephen Jolles, Elif Karakoc-Aydiner, Gerhard Kindle, Ayca Kiykim, Dinakantha Kumararatne, Bodo Grimbacher, Hilary Longhurst, Nizar Mahlaoui, Tomas Milota, Fernando Moreira, Despina Moshous, Anna Mukhina, Olaf Neth, Benedicte Neven, Alexandra Nieters, Peter Olbrich, Ahmet Ozen, Jana Pachlopnik Schmid, Capucine Picard, Seraina Prader, William Rae, Janine Reichenbach, Stephan Rusch, Sinisa Savic, Alessia Scarselli, Raphael Scheible, Anna Sediva, Svetlana O. Sharapova, Anna Shcherbina, Mary Slatter, Pere Soler-Palacin, Aurelie Stanislas, Felipe Suarez, Francesca Tucci, Annette Uhlmann, Joris van Montfrans, Klaus Warnatz, Anthony Peter Williams, Phil Wood, Sven Kracker, Alison Mary Condliffe, Stephan Ehl
المساهمون: Federal Ministry of Education and Research (Germany), Novartis, GlaxoSmithKline, University of Tehran, Service de Médecine Interne, CHU Saint-Etienne-Hôpital Nord - Saint-Etienne, Département de Biothérapie [CHU Necker], CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Descartes - Paris 5 (UPD5), Department of Medical Oncology, Regina Elena Cancer Institute, Developpement Normal et Pathologique du Système Immunitaire, Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Chaire Médecine expérimentale (A. Fischer), Collège de France (CdF (institution)), Istanbul University, Addenbrookes Hospital, Center for Chronic Immunodeficiency (CCI), University Medical Center Freiburg, Freiburg, Germany, IFR Necker-Enfants Malades (IRNEM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service d'immuno-hématologie pédiatrique [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Unité d'Immunologie Hématologie et Rhumatologie Pédiatrique [Necker, Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Division of Clinical Epidemiology, Deutches Krebsforschungszentrum, Faculty of Medicine, Division of Pediatric Allergy and Immunology, Marmara University, Génétique Humaine des Maladies Infectieuses (Inserm U980), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Dmitry Rogachev Federal Research and Clinical Center of Pediatric Hematology, Oncology and Immunology, Moscow, European Laboratory for Food Induced Diseases, Università degli studi di Napoli Federico II, Imagine - Institut des maladies génétiques (IMAGINE - U1163), CHU Necker - Enfants Malades [AP-HP]-Université Paris Descartes - Paris 5 (UPD5)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Necker - Enfants Malades [AP-HP], CHU Necker - Enfants Malades [AP-HP]-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5), Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Maccari, Maria Elena, Abolhassani, Hassan, Aghamohammadi, Asghar, Aiuti, Alessandro, Aleinikova, Olga, Bangs, Catherine, Baris, Safa, Barzaghi, Federica, Baxendale, Helen, Buckland, Matthew, Burns, Siobhan O., Cancrini, Caterina, Cant, Andrew, Cathebras, Pascal, Cavazzana, Marina, Chandra, Anita, Conti, Francesca, Coulter, Tanya, Devlin, Lisa A., Edgar, J. David M., Faust, Saul, Fischer, Alain, Prat, Marina Garcia, Hammarstrom, Lennart, Heeg, Maximilian, Jolles, Stephen, Karakoc-Aydiner, Elif, Kindle, Gerhard, Kiykim, Ayca, Kumararatne, Dinakantha, Grimbacher, Bodo, Longhurst, Hilary, Mahlaoui, Nizar, Milota, Tomas, Moreira, Fernando, Moshous, Despina, Mukhina, Anna, Neth, Olaf, Neven, Benedicte, Nieters, Alexandra, Olbrich, Peter, Ozen, Ahmet, Schmid, Jana Pachlopnik, Picard, Capucine, Prader, Seraina, Rae, William, Reichenbach, Janine, Rusch, Stephan, Savic, Sinisa, Scarselli, Alessia, Scheible, Raphael, Sediva, Anna, Sharapova, Svetlana O., Shcherbina, Anna, Slatter, Mary, Soler-Palacin, Pere, Stanislas, Aurelie, Suarez, Felipe, Tucci, Francesca, Uhlmann, Annette, van Montfrans, Joris, Warnatz, Klaus, Williams, Anthony Peter, Wood, Phil, Kracker, Sven, Condliffe, Alison Mary, Ehl, Stephan, Cathébras, Pascal, Hammarström, Lennart, Milota, Toma, Montfrans, Joris van, Warnatz, Klau
المصدر: Frontiers in Immunology
Frontiers in Immunology, Frontiers, 2018, 9, ⟨10.3389/fimmu.2018.00543⟩
Frontiers in Immunology, Vol 9 (2018)
Frontiers in Immunology, 9(MAR), 543. Frontiers Media S. A.
Digital.CSIC. Repositorio Institucional del CSIC
instnameمصطلحات موضوعية: 0301 basic medicine, Oncology, activated phosphoinositide 3-kinase δ syndrome, [SDV]Life Sciences [q-bio], SIROLIMUS, registry, Activated phosphoinositide 3-kinase δ syndrome, Immunology and Allergy, Registries, Young adult, Non-U.S. Gov't, Child, MUTATION, Societies, Medical, ComputingMilieux_MISCELLANEOUS, Research Support, Non-U.S. Gov't, Middle Aged, PIK3R1, 3. Good health, Europe, Settore MED/02, natural history, Child, Preschool, Perspective, Cohort, Sirolimus/therapeutic use, [SDV.IMM]Life Sciences [q-bio]/Immunology, medicine.symptom, Immunosuppressive Agents, medicine.drug, Adult, lcsh:Immunologic diseases. Allergy, medicine.medical_specialty, Registry, activated phosphoinositide 3-kinase delta syndrome, Adolescent, Class I Phosphatidylinositol 3-Kinases, Primary Immunodeficiency Diseases, Immunology, Natural history, Research Support, Asymptomatic, 03 medical and health sciences, Young Adult, Medical, Internal medicine, Journal Article, medicine, Humans, Rapamycin, Preschool, Sirolimus, Immunologic Deficiency Syndromes/drug therapy, Cytopenia, [SDV.GEN]Life Sciences [q-bio]/Genetics, Bronchiectasis, business.industry, rapamycin, Immunologic Deficiency Syndromes, PIK3CD, medicine.disease, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Autoimmune lymphoproliferative syndrome, Primary immunodeficiency, Immunosuppressive Agents/therapeutic use, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, Societies, business, lcsh:RC581-607
وصف الملف: application/pdf; image/pdf