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1Academic Journal
المؤلفون: Sharma, Mehul, Leung, Daniel, Momenilandi, Mana, Jones, Lauren CW, Pacillo, Lucia, James, Alyssa E, Murrell, Jill R, Delafontaine, Selket, Maimaris, Jesmeen, Vaseghi-Shanjani, Maryam, Del Bel, Kate L, Lu, Henry Y, Chua, Gilbert T, Di Cesare, Silvia, Fornes, Oriol, Liu, Zhongyi, Di Matteo, Gigliola, Fu, Maggie P, Amodio, Donato, San Tam, Issan Yee, Chan, Gavin Shueng Wai, Sharma, Ashish A, Dalmann, Joshua, van der Lee, Robin, Blanchard-Rohner, Géraldine, Lin, Susan, Philippot, Quentin, Richmond, Phillip A, Lee, Jessica J, Matthews, Allison, Seear, Michael, Turvey, Alexandra K, Philips, Rachael L, Brown-Whitehorn, Terri F, Gray, Christopher J, Izumi, Kosuke, Treat, James R, Wood, Kathleen H, Lack, Justin, Khleborodova, Asya, Niemela, Julie E, Yang, Xingtian, Liang, Rui, Kui, Lin, Wong, Christina Sze Man, Poon, Grace Wing Kit, Hoischen, Alexander, van der Made, Caspar I, Yang, Jing, Chan, Koon Wing, Da Rosa Duque, Jaime Sou, Lee, Pamela Pui Wah, Ho, Marco Hok Kung, Chung, Brian Hon Yin, Le, Huong Thi Minh, Yang, Wanling, Rohani, Pejman, Fouladvand, Ali, Rokni-Zadeh, Hassan, Changi-Ashtiani, Majid, Miryounesi, Mohammad, Puel, Anne, Shahrooei, Mohammad, Finocchi, Andrea, Rossi, Paolo, Rivalta, Beatrice, Cifaldi, Cristina, Novelli, Antonio, Passarelli, Chiara, Arasi, Stefania, Bullens, Dominique, Sauer, Kate, Claeys, Tania, Biggs, Catherine M, Morris, Emma C, Rosenzweig, Sergio D, O’Shea, John J, Wasserman, Wyeth W, Bedford, H Melanie, van Karnebeek, Clara DM, Palma, Paolo, Burns, Siobhan O, Meyts, Isabelle, Casanova, Jean-Laurent, Lyons, Jonathan J, Parvaneh, Nima, Van Nguyen, Anh Thi, Cancrini, Caterina, Heimall, Jennifer, Ahmed, Hanan, McKinnon, Margaret L, Lau, Yu Lung, Béziat, Vivien, Turvey, Stuart E
المصدر: Journal of Experimental Medicine. 220(5)
مصطلحات موضوعية: Genetics, Rare Diseases, Clinical Research, 2.1 Biological and endogenous factors, Aetiology, Inflammatory and immune system, Humans, STAT6 Transcription Factor, Gain of Function Mutation, Asthma, Food Hypersensitivity, Immunoglobulin E, Medical and Health Sciences, Immunology
URL الوصول: https://escholarship.org/uc/item/4cc3m83q
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2Academic Journal
المؤلفون: Coppola, Emma, Sgrulletti, Mayla, Cortesi, Manuela, Romano, Roberta, Cirillo, Emilia, Giardino, Giuliana, Dotta, Laura, Cancrini, Caterina, Bruzzese, Dario, Badolato, Raffaele, Moschese, Viviana, Pignata, Claudio, Tommasini, Alberto, IEI-VCS Task Force
المساهمون: Coppola, Emma, Sgrulletti, Mayla, Cortesi, Manuela, Romano, Roberta, Cirillo, Emilia, Giardino, Giuliana, Dotta, Laura, Cancrini, Caterina, Bruzzese, Dario, Badolato, Raffaele, Moschese, Viviana, Pignata, Claudio, Tommasini, Alberto, IEI-VCS Task, Force
مصطلحات موضوعية: Inborn errors of immunity, Virtual Consultation System, IPINet, web-based platform, complex IEI, undiagnosed IEIs
وصف الملف: ELETTRONICO
Relation: info:eu-repo/semantics/altIdentifier/pmid/38231401; info:eu-repo/semantics/altIdentifier/wos/WOS:001144087100010; volume:44; issue:2; firstpage:"-"; lastpage:"-"; numberofpages:11; journal:JOURNAL OF CLINICAL IMMUNOLOGY; https://hdl.handle.net/11368/3069238; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85182416372; https://link.springer.com/article/10.1007/s10875-023-01644-y; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10794402/
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3Academic Journal
المؤلفون: Pulvirenti, Federica, Milito, Cinzia, Cinetto, Francesco, Garzi, Giulia, Sardella, Germano, Spadaro, Giuseppe, Lippi, Francesca, Guarnieri, Valentina, Cinicola, Bianca Laura, Carrabba, Maria, Guadagnolo, Daniele, Fabio, Giovanna, Martire, Baldassarre, Cancrini, Caterina, Lanzoni, Giulia, Finocchi, Andrea, Di Matteo, Gigliola, Pompilii, Eva, Ferrari, Simona, Quinti, Isabella
المساهمون: Pulvirenti, Federica, Milito, Cinzia, Cinetto, Francesco, Garzi, Giulia, Sardella, Germano, Spadaro, Giuseppe, Lippi, Francesca, Guarnieri, Valentina, Cinicola, Bianca Laura, Carrabba, Maria, Guadagnolo, Daniele, Fabio, Giovanna, Martire, Baldassarre, Cancrini, Caterina, Lanzoni, Giulia, Finocchi, Andrea, Di Matteo, Gigliola, Pompilii, Eva, Ferrari, Simona, Quinti, Isabella
مصطلحات موضوعية: Bruton, X-linked agammaglobulinemia, XLA, carrier, genetic counseling, genetic diagnosi, inborn errors of immunity, pregnancie, prenatal testing
Relation: info:eu-repo/semantics/altIdentifier/pmid/39867744; volume:4; issue:1; journal:JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY. GLOBAL; https://hdl.handle.net/11577/3546345
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4Academic Journal
المؤلفون: Zangari, Paola, Giancotta, Carmela, Pacillo, Lucia, Colantoni, Nicole, Leone, Fabrizio, Amodio, Donato, Santilli, Veronica, Manno, Emma Concetta, Cotugno, Nicola, Rivalta, Beatrice, Rotulo, Gioacchino Andrea, Di Cesare, Silvia, Diociaiuti, Andrea, El Hachem, May, Cancrini, Caterina, Finocchi, Andrea, Palma, Paolo
المساهمون: Ministero della Salute
المصدر: Pediatric Allergy and Immunology ; volume 35, issue 8 ; ISSN 0905-6157 1399-3038
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5Academic Journal
المؤلفون: Rivalta, Beatrice, Zangari, Paola, Pacillo, Lucia, Manno, Emma Concetta, Santilli, Veronica, Rotulo, Gioacchino Andrea, Cotugno, Nicola, Rossetti, Chiara, Vallese, Silvia, Paglietti, Maria Giovanna, Tomà, Paolo, Pardi, Valerio, Inserra, Alessandro, Francalanci, Paola, Milano, Giuseppe Maria, Alaggio, Rita, Cancrini, Caterina, Finocchi, Andrea, Palma, Paolo, Amodio, Donato
المساهمون: Ministero della Salute
المصدر: Pediatric Blood & Cancer ; volume 71, issue 7 ; ISSN 1545-5009 1545-5017
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6Academic Journal
المؤلفون: Lougaris, Vassilios, Piane, Federico Le, Cancrini, Caterina, Conti, Francesca, Tommasini, Alberto, Badolato, Raffaele, Trizzino, Antonino, Zecca, Marco, De Rosa, Antonio, Barzaghi, Federica, Pignata, Claudio
المساهمون: Pharming Group N.V.
المصدر: Italian Journal of Pediatrics ; volume 50, issue 1 ; ISSN 1824-7288
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7Academic Journal
المؤلفون: Cesana, Daniela, Cicalese, Maria Pia, Calabria, Andrea, Merli, Pietro, Caruso, Roberta, Volpin, Monica, Rudilosso, Laura, Migliavacca, Maddalena, Barzaghi, Federica, Fossati, Claudia, Gazzo, Francesco, Pizzi, Simone, Ciolfi, Andrea, Bruselles, Alessandro, Tucci, Francesca, Spinozzi, Giulio, Pais, Giulia, Benedicenti, Fabrizio, Barcella, Matteo, Merelli, Ivan, Gallina, Pierangela, Giannelli, Stefania, Dionisio, Francesca, Scala, Serena, Casiraghi, Miriam, Strocchio, Luisa, Vinti, Luciana, Pacillo, Lucia, Draghi, Eleonora, Cesana, Marcella, Riccardo, Sara, Colantuono, Chiara, Six, Emmanuelle, Cavazzana, Marina, Carlucci, Filippo, Schmidt, Manfred, Cancrini, Caterina, Ciceri, Fabio, Vago, Luca, Cacchiarelli, Davide, Gentner, Bernhard, Naldini, Luigi, Tartaglia, Marco, Montini, Eugenio, Locatelli, Franco, Aiuti, Alessandro
المساهمون: Fondazione Telethon, Ministry of Health, Italy | Agenzia Italiana del Farmaco, Ministero della Salute, Fondazione Italiana per la Ricerca sul Cancro, Ministero dell'Istruzione, dell'Università e della Ricerca
المصدر: Nature Communications ; volume 15, issue 1 ; ISSN 2041-1723
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8Academic Journal
المؤلفون: Federici, Silvia, Cinicola, Bianca Laura, La Torre, Francesco, Castagnoli, Riccardo, Lougaris, Vassilios, Giardino, Giuliana, Volpi, Stefano, Caorsi, Roberta, Leonardi, Lucia, Corrente, Stefania, Soresina, Annarosa, Cancrini, Caterina, Insalaco, Antonella, Gattorno, Marco, De Benedetti, Fabrizio, Marseglia, Gian Luigi, Del Giudice, Michele Miraglia, Cardinale, Fabio
المصدر: Frontiers in Pediatrics ; volume 11 ; ISSN 2296-2360
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9Academic Journal
المؤلفون: Romani, L., Del Chierico, F., Pane, S., Ristori, M. V., Pirona, I., Guarrasi, V., Cotugno, N., Bernardi, S., Lancella, L., Perno, C. F., Rossi, P., Villani, A., Campana, A., Palma, P., Putignani, L., Carducci, Francesca Calò, Cancrini, Caterina, Chiurchiù, Sara, degli Atti, Marta Ciofi, Cursi, Laura, Cutrera, Renato, D’Amore, Carmen, D’Argenio, Patrizia, De Ioris, Maria A., De Luca, Maia, Finocchi, Andrea, Manno, Emma Concetta, Morrocchi, Elena, Pansa, Paola, Sessa, Libera, Zangari, Paola
المساهمون: Li, Junhua, Ministero della Salute, The BioArte Limited, Italian Ministry of Health
المصدر: Microbiology Spectrum ; volume 12, issue 3 ; ISSN 2165-0497
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10Academic Journal
المؤلفون: Bosticardo, Marita, Dobbs, Kerry, Delmonte, Ottavia M., Martins, Andrew J., Pala, Francesca, Kawai, Tomoki, Kenney, Heather, Magro, Gloria, Rosen, Lindsey B., Yamazaki, Yasuhiro, Yu, Hsin-Hui, Calzoni, Enrica, Lee, Yu Nee, Liu, Can, Stoddard, Jennifer, Niemela, Julie, Fink, Danielle, Castagnoli, Riccardo, Ramba, Meredith, Cheng, Aristine, Riley, Deanna, Oikonomou, Vasileios, Shaw, Elana, Belaid, Brahim, Keles, Sevgi, Al-Herz, Waleed, Cancrini, Caterina, Cifaldi, Cristina, Baris, Safa, Sharapova, Svetlana, Schuetz, Catharina, Gennery, Andrew R., Freeman, Alexandra F., Somech, Raz, Choo, Sharon, Giliani, Silvia C., Güngör, Tayfun, Drozdov, Daniel, Meyts, Isabelle, Moshous, Despina, Neven, Benedicte, Abraham, Roshini S., El-Marsafy, Aisha, Kanariou, Maria, King, Alejandra, Licciardi, Francesco, Cruz-Muñoz, Mario E., Palma, Paolo, Poli, Cecilia, Adeli, Mehdi
المصدر: Science Immunology ; volume 10, issue 103 ; ISSN 2470-9468
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11Academic Journal
المؤلفون: Farmer, Jocelyn R, Foldvari, Zsofia, Ujhazi, Boglarka, De Ravin, Suk See, Chen, Karin, Bleesing, Jack JH, Schuetz, Catharina, Al-Herz, Waleed, Abraham, Roshini S, Joshi, Avni Y, Costa-Carvalho, Beatriz T, Buchbinder, David, Booth, Claire, Reiff, Andreas, Ferguson, Polly J, Aghamohammadi, Asghar, Abolhassani, Hassan, Puck, Jennifer M, Adeli, Mehdi, Cancrini, Caterina, Palma, Paolo, Bertaina, Alice, Locatelli, Franco, Di Matteo, Gigliola, Geha, Raif S, Kanariou, Maria G, Lycopoulou, Lilia, Tzanoudaki, Marianna, Sleasman, John W, Parikh, Suhag, Pinero, Gloria, Fischer, Bernard M, Dbaibo, Ghassan, Unal, Ekrem, Patiroglu, Turkan, Karakukcu, Musa, Al-Saad, Khulood Khalifa, Dilley, Meredith A, Pai, Sung-Yun, Dutmer, Cullen M, Gelfand, Erwin W, Geier, Christoph B, Eibl, Martha M, Wolf, Hermann M, Henderson, Lauren A, Hazen, Melissa M, Bonfim, Carmem, Wolska-Kuśnierz, Beata, Butte, Manish J, Hernandez, Joseph D, Nicholas, Sarah K, Stepensky, Polina, Chandrakasan, Shanmuganathan, Miano, Maurizio, Westermann-Clark, Emma, Goda, Vera, Kriván, Gergely, Holland, Steven M, Fadugba, Olajumoke, Henrickson, Sarah E, Ozen, Ahmet, Karakoc-Aydiner, Elif, Baris, Safa, Kiykim, Ayca, Bredius, Robbert, Hoeger, Birgit, Boztug, Kaan, Pashchenko, Olga, Neven, Benedicte, Moshous, Despina, Villartay, Jean-Pierre de, Bousfiha, Ahmed Aziz, Hill, Harry R, Notarangelo, Luigi D, Walter, Jolan E
المصدر: The Journal of Allergy and Clinical Immunology In Practice. 7(6)
مصطلحات موضوعية: Autoimmune Disease, Genetics, Hematology, Inflammatory and immune system, Adolescent, Adult, Autoimmunity, Child, Child, Preschool, Female, Hematopoietic Stem Cell Transplantation, Homeodomain Proteins, Humans, Immunologic Deficiency Syndromes, Immunosuppressive Agents, Infant, Inflammation, Male, Middle Aged, Treatment Outcome, Young Adult, Recombination activating gene, Severe combined immunodeficiency, Immune dysregulation, Autoimmune cytopenias, Hematopoietic stem cell transplantation
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/4ft3f9d0
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12Academic Journal
المؤلفون: Cifaldi, Cristina, Sgrulletti, Mayla, Cesare, Silvia Di, Rivalta, Beatrice, Emanuele, Agolini, Colucci, Lucia, Moscato, Giusella Maria Francesca, Matraxia, Marta, Perrone, Chiara, Di Matteo, Gigliola, Cancrini, Caterina, Moschese, Viviana
المصدر: Journal of Clinical Medicine; Jan2025, Vol. 14 Issue 2, p363, 15p
مصطلحات موضوعية: PULMONARY aspergillosis, ECTODERMAL dysplasia, FAMILY history (Genealogy), GENETIC variation, T cells
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13Academic Journal
المصدر: Frontiers in Immunology; 2024, p1-14, 14p
مصطلحات موضوعية: LYMPHOBLASTOID cell lines, KILLER cells, LIFE cycles (Biology), LYTIC cycle, VIRAL proteins
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14Academic Journal
المؤلفون: Petersheim, Daniel, Massaad, Michel J, Lee, Saetbyul, Scarselli, Alessia, Cancrini, Caterina, Moriya, Kunihiko, Sasahara, Yoji, Lankester, Arjan C, Dorsey, Morna, Di Giovanni, Daniela, Bezrodnik, Liliana, Ohnishi, Hidenori, Nishikomori, Ryuta, Tanita, Kay, Kanegane, Hirokazu, Morio, Tomohiro, Gelfand, Erwin W, Jain, Ashish, Secord, Elizabeth, Picard, Capucine, Casanova, Jean-Laurent, Albert, Michael H, Torgerson, Troy R, Geha, Raif S
المصدر: Journal of Allergy and Clinical Immunology. 141(3)
مصطلحات موضوعية: Genetics, Aetiology, 2.1 Biological and endogenous factors, Carrier Proteins, Chemokine CCL20, Ectodermal Dysplasia, Genetic Diseases, X-Linked, Genotype, HEK293 Cells, Humans, Immunologic Deficiency Syndromes, Intercellular Adhesion Molecule-1, Interleukin-6, NF-KappaB Inhibitor alpha, NF-kappa B p52 Subunit, Point Mutation, Primary Immunodeficiency Diseases, Proto-Oncogene Mas, Signal Transduction, Ectodermal dysplasia with immune deficiency, NF-kappa B inhibitor alpha, canonical nuclear factor kappa B pathway, noncanonical nuclear factor kappa B pathway, lymphorganogenesis, hematopoietic stem cell transplantation, NF-κB inhibitor α, canonical nuclear factor κB pathway, noncanonical nuclear factor κB pathway, Immunology, Allergy
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/7dk0b08m
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15Academic 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, Pachlopnik Schmid, Jana, Prader, Seraina, Trück, Johannes
المصدر: 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; Pachlopnik Schmid, Jana; Prader, Seraina; Trück, Johannes (2023). Activated Phosphoinositide 3-Kinase δ Syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity. Journal of Allergy and Clinical Immunology, 152(4):984-996.e10.
مصطلحات موضوعية: Medical Clinic, 610 Medicine & health, Immunology, Immunology and Allergy
وصف الملف: application/pdf
Relation: https://www.zora.uzh.ch/id/eprint/234513/1/1_s2.0_S0091674923008126_main.pdf; info:pmid/37390899; urn:issn:0091-6749
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16Academic Journal
المؤلفون: Carrabba, Maria, Dellepiane, Rosa Maria, Cortesi, Manuela, Baselli, Lucia Augusta, Soresina, Annarosa, Cirillo, Emilia, Giardino, Giuliana, Conti, Francesca, Dotta, Laura, Finocchi, Andrea, Cancrini, Caterina, Milito, Cinzia, Pacillo, Lucia, Cinicola, Bianca Laura, Cossu, Fausto, Consolini, Rita, Montin, Davide, Quinti, Isabella, Pession, Andrea, Fabio, Giovanna, Pignata, Claudio, Pietrogrande, Maria Cristina, Badolato, Raffaele
المساهمون: Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
المصدر: Allergy, Asthma & Clinical Immunology ; volume 19, issue 1 ; ISSN 1710-1492
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17Academic Journal
المؤلفون: Giancotta, Carmela, Colantoni, Nicole, Pacillo, Lucia, Santilli, Veronica, Amodio, Donato, Manno, Emma Concetta, Cotugno, Nicola, Rotulo, Gioacchino Andrea, Rivalta, Beatrice, Finocchi, Andrea, Cancrini, Caterina, Diociaiuti, Andrea, El Hachem, May, Zangari, Paola
المصدر: Frontiers in Pediatrics ; volume 11 ; ISSN 2296-2360
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18Academic Journal
المؤلفون: Sarli, Walter Maria, Ricci, Silvia, Lodi, Lorenzo, Cavone, Federica, Pacillo, Lucia, Giancotta, Carmela, Ubertini, Graziamaria, Baroncelli, Giampiero, Cancrini, Caterina, Azzari, Chiara, Stagi, Stefano
المصدر: Frontiers in Endocrinology ; volume 14 ; ISSN 1664-2392
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19Academic Journal
المؤلفون: Attardi, Enrico, Rivalta, Beatrice, Cifaldi, Cristina, Rosti, Vittorio, Pacillo, Lucia, Hajrullaj, Hajro, Cesare, Silvia Di, Luciani, Matteo, Barzaghi, Federica, Finocchi, Andrea, Matteo, Gigliola Di, Aiuti, Alessandro, Locatelli, Franco, Voso, Maria Teresa, Palumbo, Giuseppe, Cancrini, Caterina
المصدر: EJC Paediatric Oncology ; volume 2, page 100104 ; ISSN 2772-610X
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20Academic Journal
المؤلفون: Baccelli, Francesco, Leardini, Davide, Muratore, Edoardo, Messelodi, Daria, Bertuccio, Salvatore Nicola, Chiriaco, Maria, Cancrini, Caterina, Conti, Francesca, Castagnetti, Fausto, Pedace, Lucia, Pession, Andrea, Yoshimi, Ayami, Niemeyer, Charlotte, Tartaglia, Marco, Locatelli, Franco, Masetti, Riccardo
المساهمون: Baccelli, Francesco, Leardini, Davide, Muratore, Edoardo, Messelodi, Daria, Bertuccio, Salvatore Nicola, Chiriaco, Maria, Cancrini, Caterina, Conti, Francesca, Castagnetti, Fausto, Pedace, Lucia, Pession, Andrea, Yoshimi, Ayami, Niemeyer, Charlotte, Tartaglia, Marco, Locatelli, Franco, Masetti, Riccardo
مصطلحات موضوعية: CBL, CBL syndrome, Immune dysregulation, JMML, SH2B3, Germ Cell, Germ-Line Mutation, Human, Leukocytes, Mononuclear, Leukemia, Myelomonocytic, Juvenile, Proto-Oncogene Proteins c-cbl
وصف الملف: ELETTRONICO
Relation: info:eu-repo/semantics/altIdentifier/pmid/36123612; info:eu-repo/semantics/altIdentifier/wos/WOS:000855449300002; volume:16; issue:1; firstpage:1640; lastpage:1651; numberofpages:12; journal:HUMAN GENOMICS; https://hdl.handle.net/11585/896424; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85138129924; https://humgenomics.biomedcentral.com/articles/10.1186/s40246-022-00414-y