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PLAUR splicing pattern in hereditary angioedema patients’ monocytes and macrophagesBallonová, Lucie ; Kulíšková, Petra ; Slanina, Peter ; Štíchová, Julie ; Vlková, Marcela ; Hakl, Roman ; Litzman, Jiří ; Souček, Přemysl ; Freiberger, TomášMolecular biology reports, 2023-06, Vol.50 (6), p.4975-4982 [Periódico revisado por pares]Dordrecht: Springer NetherlandsTexto completo disponível |
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Wegener's granulomatosis: ischemic stroke as the first clinical manifestation (case study)Bares, Martin ; Muchová, Miroslava ; Dufek, Michal ; Litzman, Jirí ; Krupa, Petr ; Rektor, IvanJournal of neurology, 2002-11, Vol.249 (11), p.1593-1594 [Periódico revisado por pares]Germany: Springer Nature B.VTexto completo disponível |
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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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Selective IgM Deficiency: Clinical and Laboratory Features of 17 Patients and a Review of the LiteratureChovancova, Zita ; Kralickova, Pavlina ; Pejchalova, Alena ; Bloomfield, Marketa ; Nechvatalova, Jana ; Vlkova, Marcela ; Litzman, JiriJournal of clinical immunology, 2017-08, Vol.37 (6), p.559-574 [Periódico revisado por pares]New York: Springer USTexto completo disponível |
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Successful renal transplantation in a patient with a Wiskott–Aldrich syndrome protein (WASP) gene mutationChovancova, Zita ; Kuman, Milan ; Vlkova, Marcela ; Litzman, JiriTransplant international, 2015-08, Vol.28 (8), p.1005-1009 [Periódico revisado por pares]England: Blackwell Publishing LtdTexto completo disponível |
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Long term outcomes of 176 patients with X-linked hyper IgM syndrome treated with or without hematopoietic cell transplantationde la Morena, M Teresa ; Leonard, David ; Torgerson, Troy R ; Cabral-Marques, Otavio ; Slatter, Mary ; Aghamohammadi, Asghar ; Chandra, Sharat ; Murguia-Favela, Luis ; Bonilla, Francisco ; Kanariou, Maria ; Damrongwatanasuk, Rongras ; Kuo, Caroline Y ; Dvorak, Christopher C ; Meyts, Isabelle ; Chen, Karin ; Kobrynski, Lisa ; Kapoor, Neena ; Richter, Darko ; DiGiovanni, Daniela ; Dhalla, Fatima ; Farmaki, Evangelia ; Speckmann, Carsten ; Espanol, Teresa ; Shcherbina, Anna ; Hanson, Celine ; Litzman, Jiri ; Routes, John ; Wong, Melanie ; Fuleihan, Ramsay ; Seneviratne, Suranjith L ; Small, Trudy N ; Janda, Ales ; Bezrodnik, Liliana ; Seger, Reinhard ; Raccio, Andrea Gomez ; Edgar, J David M ; Chou, Janet ; Abbott, Jordan K ; van Montfrans, Joris ; Gonzalez-Granado, Luis Ignacio ; Bunin, Nancy ; Kutukculer, Necil ; Gray, Paul ; Seminario, Gisela ; Pasic, Srdjan ; Aquino, Victor ; Wysocki, Christian ; Abolhassani, Hassan ; Grunebaum, Eyal ; Dorsey, Morna ; Costa Carvalho, Beatriz Tavares ; Condino-Neto, Antonio ; Cunningham-Rundles, Charlotte ; Knutsen, Alan P ; Sleasman, John ; Chapel, Helen ; Ochs, Hans D ; Filipovich, Alexandra ; Cowan, Mort ; Gennery, Andrew ; Cant, Andrew ; Notarangelo, Luigi D ; Roifman, ChaimJournal of Allergy and Clinical Immunology, 2017-04, Vol.139 (4), p.1282-1292 [Periódico revisado por pares]ElsevierTexto completo disponível |
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Material Type: Artigo
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Therapeutic options for CTLA-4 insufficiencyEgg, David ; Rump, Ina Caroline ; Mitsuiki, Noriko ; Rojas-Restrepo, Jessica ; Maccari, Maria-Elena ; Schwab, Charlotte ; Gabrysch, Annemarie ; Warnatz, Klaus ; Goldacker, Sigune ; Patiño, Virginia ; Wolff, Daniel ; Okada, Satoshi ; Hayakawa, Seiichi ; Shikama, Yoshiaki ; Kanda, Kenji ; Imai, Kohsuke ; Sotomatsu, Manabu ; Kuwashima, Makoto ; Kamiya, Takahiro ; Morio, Tomohiro ; Matsumoto, Kazuaki ; Mori, Takeshi ; Yoshimoto, Yuri ; Dybedal, Ingunn ; Kanariou, Maria ; Kucuk, Zeynep Yesim ; Chapdelaine, Hugo ; Petruzelkova, Lenka ; Lorenz, Hanns-Martin ; Sullivan, Kathleen E. ; Heimall, Jennifer ; Moutschen, Michel ; Litzman, Jiri ; Recher, Mike ; Albert, Michael H. ; Hauck, Fabian ; Seneviratne, Suranjith ; Pachlopnik Schmid, Jana ; Kolios, Antonios ; Unglik, Gary ; Klemann, Christian ; Snapper, Scott ; Giulino-Roth, Lisa ; Svaton, Michael ; Platt, Craig D. ; Hambleton, Sophie ; Neth, Olaf ; Gosse, Geraldine ; Reinsch, Steffen ; Holzinger, Dirk ; Kim, Yae-Jean ; Bakhtiar, Shahrzad ; Atschekzei, Faranaz ; Schmidt, Reinhold ; Sogkas, Georgios ; Chandrakasan, Shanmuganathan ; Rae, William ; Derfalvi, Beata ; Marquart, Hanne Vibeke ; Ozen, Ahmet ; Kiykim, Ayca ; Karakoc-Aydiner, Elif ; Králíčková, Pavlína ; de Bree, Godelieve ; Kiritsi, Dimitra ; Seidel, Markus G. ; Kobbe, Robin ; Dantzer, Jennifer ; Alsina, Laia ; Armangue, Thais ; Lougaris, Vassilios ; Agyeman, Philipp ; Nyström, Sofia ; Buchbinder, David ; Arkwright, Peter D. ; Grimbacher, BodoJournal of allergy and clinical immunology, 2022-02, Vol.149 (2), p.736-746 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Role of Flow Cytometry in the Diagnosis of Chronic Granulomatous Disease: the Egyptian ExperienceEl Hawary, Rabab ; Meshaal, Safa ; Deswarte, Caroline ; Galal, Nermeen ; Abdelkawy, Mahitab ; Alkady, Radwa ; Elaziz, Dalia Abd ; Freiberger, Tomas ; Ravcukova, Barbora ; Litzman, Jiri ; Bustamante, Jacinta ; Boutros, Jeannette ; Gaafar, Taghrid ; Elmarsafy, AishaJournal of clinical immunology, 2016-08, Vol.36 (6), p.610-618 [Periódico revisado por pares]New York: Springer USTexto completo disponível |
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Material Type: Artigo
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Five novel mutations in the C1 inhibitor gene (C1NH) leading to a premature stop codon in patients with type I hereditary angioedema: Mutations in BriefFreiberger, Tomáš ; Kolárová, Lenka ; Mejstrík, Pavel ; Vyskocilová, Martina ; Kuklínek, Pavel ; Litzman, JiríHuman mutation, 2002-04, Vol.19 (4), p.461-461 [Periódico revisado por pares]Texto completo disponível |
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Material Type: Artigo
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Five novel mutations in the C1 inhibitor gene (C1NH) leading to a premature stop codon in patients with type I hereditary angioedemaFreiberger, Tomáš ; Kolárová, Lenka ; Mejstrík, Pavel ; Vyskocilová, Martina ; Kuklínek, Pavel ; Litzman, JiríHuman mutation, 2002-04, Vol.19 (4), p.461-461 [Periódico revisado por pares]New York: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |