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Material Type: Artigo
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Systematic Approach Revealed SERPING1 Splicing-Affecting Variants to be Highly Represented in the Czech National HAE CohortGrombirikova, Hana ; Bily, Viktor ; Soucek, Premysl ; Kramarek, Michal ; Hakl, Roman ; Ballonova, Lucie ; Ravcukova, Barbora ; Ricna, Dita ; Kozena, Karolina ; Kratochvilova, Lucie ; Sobotkova, Marta ; Zachova, Radana ; Kuklinek, Pavel ; Kralickova, Pavlina ; Krcmova, Irena ; Hanzlikova, Jana ; Vachova, Martina ; Krystufkova, Olga ; Dankova, Eva ; Jesenak, Milos ; Novackova, Martina ; Svoboda, Michal ; Litzman, Jiri ; Freiberger, TomasJournal of clinical immunology, 2023-11, Vol.43 (8), p.1974-1991 [Periódico revisado por pares]New York: Springer USTexto completo disponível |
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Material Type: Artigo
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A Rose Amongst the Thorns: the Mission of the J Project in a Conflictual WorldMaródi, László ; Abolhassani, Hassan ; Avcin, Tadej ; Bahceciler, Nerin ; Bataneant, Mihaela ; Belevtsev, Mikhail ; Bernatowska, Ewa ; Bolkov, Mikhail ; Bondarenko, Anastasia ; Boyarchuk, Oksana ; Erdős, Melinda ; Galal, Nermeen ; Iritsyan, Sevan ; Ismaili-Jaha, Vlora ; Kelecic, Jadranka ; Keles, Sevgi ; Kostyuchenko, Larysa ; Kovzel, Elena ; Kuli-Lito, Georgina ; Kurjane, Natalja ; Lázár, István ; Litzman, Jiri ; Mammadova, Vafa ; Miltner, Noémi ; Mironska, Kristina ; Murdjeva, Marianna ; Nabieva, Umida ; Nasrullayeva, Gulnara ; Naumova, Elissaveta ; Orozbekova, Bubusaira ; Pac, Malgorzata ; Pagava, Karaman ; Petrosyan, Mery ; Petrovic, Gordana ; Pocek, Lidija ; Reisli, Ismail ; Ress, Krista ; Rezaei, Nima ; Sciuca, Svetlana ; Sediva, Anna ; Serban, Margit ; Sharapova, Svetlana ; Snimshchikova, Irina ; Spahiu-Konjusha, Shqipe ; Toplak, Natasa ; Tuzankina, Irina ; Volokha, AllaJournal of clinical immunology, 2022-08, Vol.42 (6), p.1151-1155 [Periódico revisado por pares]New York: Springer USTexto completo disponível |
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Material Type: Artigo
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Placing the Blame: What If “They” REALLY Are Responsible?Xun, Zhou ; Gilman, SanderThe Journal of medical humanities, 2021-03, Vol.42 (1), p.17-49 [Periódico revisado por pares]New York: Springer USTexto completo disponível |
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Material Type: Artigo
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The Konya Declaration for Patients with Primary ImmunodeficienciesMaródi, László ; Abolhassani, Hassan ; Aghamohamaddi, Asghar ; Avcin, Tadej ; Bataneant, Mihaela ; Belevtsev, Mikhail ; Bernatowska, Ewa ; Bolkov, Mikhael ; Bondarenko, Anastasiia ; Boyarchuk, Oksana ; Caliskaner, Zafer ; Chernyshova, Liudmyla ; Ciznar, Peter ; El-Marsafy, Aisha ; Erdős, Melinda ; Galal, Nermeen ; Gherghina, Ioan ; Guseva, Marina ; Iritsyan, Sevan ; Ismaili-Jaha, Vlora ; Ispaeva, Zhanat ; Kelecic, Jadranka ; Keles, Sevgi ; Kondratenko, Irina ; Kostyuchenko, Larysa ; Kovzel, Elena ; Kuli-Lito, Georgina ; Kurjane, Natalja ; Lázár, István ; Litzman, Jiri ; Lutovac, Branko ; Mammadova, Vafa ; Markelj, Garper ; Mijanovic, Radovan ; Miltner, Noémi ; Mironska, Kristina ; Mulaosmanovich, Velma ; Murdjeva, Mariana ; Nabieva, Umida ; Naumova, Elissaveta ; Nashrullayeva, Gulnara ; Pac, Malgorzata ; Pagava, Karaman ; Pasic, Srdjan ; Pischalnikov, Alexander ; Prokofjeva, Tatjana ; Reisli, Ismail ; Rezaei, Nima ; Ress, Krista ; Sakovich, Inga ; Savchak, Ihor ; Sciuca, Svetlana ; Sediva, Anna ; Serban, Margit ; Sharapova, Svetlana ; Sitkauskiene, Brigita ; Skomska, Malgosia ; Snimschchikova, Irina ; Spahiu-Konjusha, Shquipe ; Szolnoky, Miklós ; Tóth, Beáta ; Totolian, Areg ; Tsyvkina, Galina ; Tuzankina, Irina ; Volokha, AllaJournal of clinical immunology, 2020-07, Vol.40 (5), p.770-773 [Periódico revisado por pares]New York: Springer USTexto completo disponível |
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Material Type: Artigo
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European Society for Immunodeficiencies (ESID) and European Reference Network on Rare Primary Immunodeficiency, Autoinflammatory and Autoimmune Diseases (ERN RITA) Complement Guideline: Deficiencies, Diagnosis, and ManagementBrodszki, Nicholas ; Frazer-Abel, Ashley ; Grumach, Anete S. ; Kirschfink, Michael ; Litzman, Jiri ; Perez, Elena ; Seppänen, Mikko R. J. ; Sullivan, Kathleen E. ; Jolles, StephenJournal of clinical immunology, 2020-05, Vol.40 (4), p.576-591 [Periódico revisado por pares]New York: Springer USTexto completo disponível |
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Material Type: Artigo
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Deep Intronic Mutation in SERPING1 Caused Hereditary Angioedema Through Pseudoexon ActivationHujová, Pavla ; Souček, Přemysl ; Grodecká, Lucie ; Grombiříková, Hana ; Ravčuková, Barbora ; Kuklínek, Pavel ; Hakl, Roman ; Litzman, Jiří ; Freiberger, TomášJournal of clinical immunology, 2020-04, Vol.40 (3), p.435-446 [Periódico revisado por pares]New York: Springer USTexto completo disponível |
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Material Type: Artigo
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Fifteen Years of the J ProjectMaródi, László ; Abolhassani, Hassan ; Aghamohamaddi, Asghar ; Avcin, Tadej ; Bataneant, Michaela ; Belevtsev, Michail ; Bernatowska, Ewa ; Bolkov, Michael ; Bondarenko, Anastasia ; Caliskaner, Zafer ; Chernyshova, Liudmyla ; Ciznar, Peter ; El-Marsafy, Aisha ; Erdős, Melinda ; Nereen Galal ; Guseva, Marina ; Iritsyan, Sevan ; Ismaili-Jaha, Vlora ; Kelecic, Jadranka ; Kondratenko, Irina ; Kostyuchenko, Larysa ; Kovzel, Elena ; Kuli-Lito, Georgina ; Lázár, István ; Litzman, Jiri ; Mironska, Kristina ; Mulaosmanovich, Velma ; Naumova, Elissaveta ; Nashrullayeva, Gulnara ; Pac, Malgorzata ; Karaman Pagava ; Pasic, Srdjan ; Pischalnikov, Alexander ; Prokofjeva, Tatjana ; Ismail Reisli ; Resaei, Nima ; Ress, Krista ; Savchak, Ihor ; Sciuca, Svetlana ; Sediva, Anna ; Serban, Margit ; Sharapova, Svetlana ; Sitkauskiene, Brigita ; Skomska, Malgosia ; Szolnoky, Miklós ; Tóth, Beáta ; Totolian, Areg ; Tuzankina, Irina ; Vamos, Katalin ; Volokha, AllaJournal of clinical immunology, 2019-05, Vol.39 (4), p.363-369 [Periódico revisado por pares]New York: Springer USTexto completo disponível |
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Material Type: Artigo
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Correction to: Imaging of Bronchial Pathology in Antibody Deficiency: Data from the European Chest CT GroupSchütz, Katharina ; Alecsandru, Diana ; Grimbacher, Bodo ; Haddock, Jamanda ; Bruining, Annemarie ; Driessen, Gertjan ; de Vries, Esther ; van Hagen, Peter M. ; Hartmann, Ieneke ; Fraioli, Francesco ; Milito, Cinzia ; Mitrevski, Milica ; Quinti, Isabella ; Serra, Goffredo ; Kelleher, Peter ; Loebinger, Michael ; Litzman, Jiri ; Postranecka, Vera ; Thon, Vojtech ; Babar, Judith ; Condliffe, Alison M. ; Exley, Andrew ; Kumararatne, Dinakantha ; Screaton, Nick ; Jones, Alison ; Bondioni, Maria P ; Lougaris, Vassilios ; Plebani, Alessandro ; Soresina, Annarosa ; Sirignano, Cesare ; Spadaro, Giuseppe ; Galal, Nermeen ; Gonzalez-Granado, Luis I. ; Dettmer, Sabine ; Stirling, Robert ; Chapel, Helen ; Lucas, Mary ; Patel, Smita ; Farber, Claire-Michele ; Meyts, Isabelle ; Banerjee, Arpan K ; Hackett, Scott ; Hurst, John R. ; Warnatz, Klaus ; Gathmann, Benjamin ; Weidemann, Jürgen ; Berthold, Daniel ; Baumann, UlrichJournal of clinical immunology, 2019-02, Vol.39 (2), p.225-227 [Periódico revisado por pares]New York: Springer USTexto completo disponível |
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Material Type: Artigo
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Imaging of Bronchial Pathology in Antibody Deficiency: Data from the European Chest CT GroupSchütz, Katharina ; Alecsandru, Diana ; Grimbacher, Bodo ; Haddock, Jamanda ; Bruining, Annemarie ; Driessen, Gertjan ; de Vries, Esther ; van Hagen, Peter M. ; Hartmann, Ieneke ; Fraioli, Francesco ; Milito, Cinzia ; Mitrevski, Milica ; Quinti, Isabella ; Serra, Goffredo ; Kelleher, Peter ; Loebinger, Michael ; Litzman, Jiri ; Postranecka, Vera ; Thon, Vojtech ; Babar, Judith ; Condliffe, Alison M. ; Exley, Andrew ; Kumararatne, Dinakantha ; Screaton, Nick ; Jones, Alison ; Bondioni, Maria P. ; Lougaris, Vassilios ; Plebani, Alessandro ; Soresina, Annarosa ; Sirignano, Cesare ; Spadaro, Giuseppe ; Galal, Nermeen ; Gonzalez-Granado, Luis I. ; Dettmer, Sabine ; Stirling, Robert ; Chapel, Helen ; Lucas, Mary ; Patel, Smita ; Farber, Claire-Michele ; Meyts, Isabelle ; Banerjee, Arpan K. ; Hackett, Scott ; Hurst, John R. ; Warnatz, Klaus ; Gathmann, Benjamin ; Baumann, UlrichJournal of clinical immunology, 2019-01, Vol.39 (1), p.45-54 [Periódico revisado por pares]New York: Springer USTexto completo disponível |
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Material Type: Artigo
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Imaging of Bronchial Pathology in Antibody Deficiency: Data from the European Chest CT GroupSchuetz, Katharina ; Alecsandru, Diana ; Grimbacher, Bodo ; Haddock, Jamanda ; Bruining, Annemarie ; Driessen, Gertjan ; de Vries, Esther ; van Hagen, Peter M ; Hartmann, Ieneke ; Fraioli, Francesco ; Milito, Cinzia ; Mitrevski, Milica ; Quinti, Isabella ; Serra, Goffredo ; Kelleher, Peter ; Loebinger, Michael ; Litzman, Jiri ; Postranecka, Vera ; Thon, Vojtech ; Babar, Judith ; Condliffe, Alison M ; Exley, Andrew ; Kumararatne, Dinakantha ; Screaton, Nick ; Jones, Alison ; Bondioni, Maria P ; Lougaris, Vassilios ; Plebani, Alessandro ; Soresina, Annarosa ; Sirignano, Cesare ; Spadaro, Giuseppe ; Galal, Nermeen ; Gonzalez-Granado, Luis I ; Dettmer, Sabine ; Stirling, Robert ; Chapel, Helen ; Lucas, Mary ; Patel, Smita ; Farber, Claire-Michele ; Meyts, Isabelle ; Banerjee, Arpan K ; Hackett, Scott ; Hurst, John R ; Warnatz, Klaus ; Gathmann, Benjamin ; Baumann, UlrichJOURNAL OF CLINICAL IMMUNOLOGY, 2019-01, Vol.39 (1), p.45-54 [Periódico revisado por pares]SPRINGER/PLENUM PUBLISHERSTexto completo disponível |