المؤلفون: Le Voyer, Tom, Parent, Audrey V., Liu, Xian, Cederholm, Axel, Gervais, Adrian, Rosain, Jeremie, Nguyen, Tina, Lorenzo, Malena Perez, Rackaityte, Elze, Rinchai, Darawan, Zhang, Peng, Bizien, Lucy, Hancioglu, Gonca, Ghillani-Dalbin, Pascale, Charuel, Jean-Luc, Philippot, Quentin, Gueye, Mame Sokhna, Renkilaraj, Majistor Raj Luxman Maglorius, Ogishi, Masato, Soudee, Camille, Migaud, Melanie, Rozenberg, Flore, Momenilandi, Mana, Riller, Quentin, Imberti, Luisa, Delmonte, Ottavia M., Mueller, Gabriele, Keller, Baerbel, Orrego, Julio, Gallego, William Alexander Franco, Rubin, Tamar, Emiroglu, Melike, Parvaneh, Nima, Eriksson, Daniel, Aranda-Guillen, Maribel, Berrios, David I., Vong, Linda, Katelaris, Constance H., Mustillo, Peter, Raedler, Johannes, Bohlen, Jonathan, Celik, Jale Bengi, Astudillo, Camila, Winter, Sarah, McLean, Catriona, Guffroy, Aurelien, DeRisi, Joseph L., Yu, David, Miller, Corey, Feng, Yi, Guichard, Audrey, Beziat, Vivien, Bustamante, Jacinta, Pan-Hammarstrom, Qiang, Zhang, Yu, Rosen, Lindsey B., Holland, Steve M., Bosticardo, Marita, Kenney, Heather, Castagnoli, Riccardo, Slade, Charlotte A., Boztug, Kaan, Mahlaoui, Nizar, Latour, Sylvain, Abraham, Roshini S., Lougaris, Vassilios, Hauck, Fabian, Sediva, Anna, Atschekzei, Faranaz, Sogkas, Georgios, Poli, M. Cecilia, Slatter, Mary A., Palterer, Boaz, Keller, Michael D., Pinzon-Charry, Alberto, Sullivan, Anna, Droney, Luke, Suan, Daniel, Wong, Melanie, Kane, Alisa, Hu, Hannah, Ma, Cindy, Grombirikova, Hana, Ciznar, Peter, Dalal, Ilan, Aladjidi, Nathalie, Hie, Miguel, Lazaro, Estibaliz, Franco, Jose, Keles, Sevgi, Malphettes, Marion, Pasquet, Marlene, Maccari, Maria Elena, Meinhardt, Andrea, Ikinciogullari, Aydan, Shahrooei, Mohammad, Celmeli, Fatih, Frosk, Patrick, Goodnow, Christopher C., Gray, Paul E., Belot, Alexandre, Kuehn, Hye Sun, Rosenzweig, Sergio D., Miyara, Makoto, Licciardi, Francesco, Servettaz, Amelie, Barlogis, Vincent, Le Guenno, Guillaume, Herrmann, Vera-Maria, Kuijpers, Taco, Ducoux, Gregoire, Sarrot-Reynauld, Francoise, Schuetz, Catharina, Cunningham-Rundles, Charlotte, Rieux-Laucat, Frederic, Tangye, Stuart G., Sobacchi, Cristina, Doffinger, Rainer, Warnatz, Klaus, Grimbacher, Bodo, Fieschi, Claire, Berteloot, Laureline, Bryant, Vanessa L., Assant, Sophie Trouillet, Su, Helen, Neven, Benedicte, Abel, Laurent, Zhang, Qian, Boisson, Bertrand, Cobat, Aurelie, Jouanguy, Emmanuelle, Kampe, Olle, Bastard, Paul, Roifman, Chaim M., Landegren, Nils, 1986, Notarangelo, Luigi D., Anderson, Mark S., Casanova, Jean-Laurent, Puel, Anne

المصدر: Nature. 623(7988):803-813

وصف الملف: electronic

الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-525531Test
https://doi.org/10.1038/s41586-023-06717-xTest
https://uu.diva-portal.org/smash/get/diva2:1846552/FULLTEXT01.pdfTest

المؤلفون: Grombirikova, 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, Tomas

المساهمون: Ministerstvo Zdravotnictví Ceské Republiky, Ministerstvo Školství, Mládeže a Tělovýchovy, Masaryk University

المصدر: Journal of Clinical Immunology ; volume 43, issue 8, page 1974-1991 ; ISSN 0271-9142 1573-2592

مصطلحات موضوعية: Immunology, Immunology and Allergy

الإتاحة: https://doi.org/10.1007/s10875-023-01565-wTest

المؤلفون: Drouet, Christian, López-Lera, Alberto, Ghannam, Arije, López-Trascasa, Margarita, Cichon, Sven, Ponard, Denise, Parsopoulou, Faidra, Grombirikova, Hana, Freiberger, Tomáš, Rijavec, Matija, Veronez, Camila, L, Pesquero, João, Bosco, Germenis, Anastasios, E

المساهمون: Institut Cochin Departement Infection, immunité, inflammation, Institut Cochin (IC UM3 (UMR 8104 / U1016)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), University Grenoble Alpes, Grenoble University Hospital, Hospital La Paz Institute for Health Research (IdiPAZ), CIBERER U-754, Madrid, KininX, University Grenoble Alpes, Hospital Universitario La Paz, Université de Bâle = University of Basel = Basel Universität (Unibas), Grenoble University Hospital, Grenoble, France, CeMIA, Larissa, Masaryk University, Centre for Cardiovascular Surgery and Transplantation Brno and Medical Faculty, University Clinic of Respiratory and Allergic Diseases Golnik, Federal University of São Paolo, Department of Biophysics, Centre for Research and Genetic Diagnosis of Genetic Diseases, University of Thessaly Larissa, Ministry of Health, Czech Republic, grant no.NV18-05-00330, Ministry of Education, Youth and Sports, Czech Republic, grant no.MUNI/A/1099/2019

المصدر: ISSN: 2673-6101 ; Frontiers in Allergy ; https://hal.univ-grenoble-alpes.fr/hal-04464374Test ; Frontiers in Allergy, 2022, 3, pp.835503. ⟨10.3389/falgy.2022.835503⟩.

مصطلحات موضوعية: C1-INH-HAE, C1 Inhibitor, SERPING1 gene, genetic variation, serpin function, serpinopathy, angioedema, hereditary-diagnosis, C1-INH-HAE C1 Inhibitor SERPING1 gene genetic variation serpin function serpinopathy angioedema hereditary-diagnosis, [SDV]Life Sciences [q-bio]

العلاقة: hal-04464374; https://hal.univ-grenoble-alpes.fr/hal-04464374Test; https://hal.univ-grenoble-alpes.fr/hal-04464374/documentTest; https://hal.univ-grenoble-alpes.fr/hal-04464374/file/2203Drouet_SERPING1%20%26%20C1INH%20rev_FrontAllergy.pdfTest

الإتاحة: https://doi.org/10.3389/falgy.2022.835503Test
https://hal.univ-grenoble-alpes.fr/hal-04464374Test
https://hal.univ-grenoble-alpes.fr/hal-04464374/documentTest
https://hal.univ-grenoble-alpes.fr/hal-04464374/file/2203Drouet_SERPING1%20%26%20C1INH%20rev_FrontAllergy.pdfTest

المؤلفون: Sharapova, Svetlana O., Skomska-Pawliszak, Małgorzata, Rodina, Yulia A., Wolska-Kuśnierz, Beata, Dabrowska-Leonik, Nel, Mikołuć, Bozena, Pashchenko, Olga E., Pasic, Srdjan, Freiberger, Tomáš, Milota, Tomáš, Formánková, Renata, Szaflarska, Anna, Siedlar, Maciej, Avčin, Tadej, Markelj, Gašper, Ciznar, Peter, Kalwak, Krzysztof, Kołtan, Sylwia, Jackowska, Teresa, Drabko, Katarzyna, Gagro, Alenka, Pac, Małgorzata, Naumova, Elissaveta, Kandilarova, Snezhina, Babol-Pokora, Katarzyna, Varabyou, Dzmitry S., Barendregt, Barbara H., Raykina, Elena V., Varlamova, Tatiana V., Pavlova, Anna V., Grombirikova, Hana, Debeljak, Maruša, Mersiyanova, Irina V., Bondarenko, Anastasiia V., Chernyshova, Liudmyla I., Kostyuchenko, Larysa V., Guseva, Marina N., Rascon, Jelena, Mulevičienė, Audronė, Preikšaitienė, Eglė, Geier, Christoph B., Leiss-Piller, Alexander, Yamazaki, Yasuhiro, Kawai, Tomoki, Walter, Jolan E., Kondratenko, Irina V., Šedivá, Anna, van der Burg, Mirjam, Kuzmenko, Natalia B., Notarangelo, Luigi D., Bernatowska, Ewa, Aleinikova, Olga V.

المصدر: Frontiers in immunology., Lausanne : Frontiers Media SA, 2020, vol. 11, art. no. 900, p. [1-13]. ; eISSN 1664-3224

مصطلحات موضوعية: geographic distribution, incidence, primary immunodeficiency, RAG1, RAG2, Slavic children

وصف الملف: application/pdf

العلاقة: https://epublications.vu.lt/object/elaba:83948915/83948915.pdfTest; https://repository.vu.lt/VU:ELABAPDB83948915&prefLang=en_USTest

الإتاحة: https://doi.org/10.3389/fimmu.2020.00900Test
https://repository.vu.lt/VU:ELABAPDB83948915&prefLang=en_USTest

المؤلفون: Sharapova, Svetlana, Skomska-Pawliszak, Małgorzata, Rodina, Yulia, Wolska-Kuśnierz, Beata, Dabrowska-Leonik, Nel, Mikołuć, Bozena, Pashchenko, Olga, Pasic, Srdjan, Freiberger, Tomáš, Milota, Tomáš, Formánková, Renata, Szaflarska, Anna, Siedlar, Maciej, Avcin, Tadej, Markelj, Gašper, Ciznar, Peter, Kałwak, Krzysztof, Kołtan, Sylwia, Jackowska, Teresa, Drabko, Katarzyna, Gagro, Alenka, Pac, Małgorzata, Naumova, Elissaveta, Kandilarova, Snezhina, Babol-Pokora, Katarzyna, Varabyou, Dzmitry, Barendregt, Barbara, Raykina, Elena, Varlamova, Tatiana, Pavlova, Anna, Grombirikova, Hana, Debeljak, Maruša, Mersiyanova, Irina, Bondarenko, Anastasiia, Chernyshova, Liudmyla, Kostyuchenko, Larysa, Guseva, Marina, Rascon, Jelena, Muleviciene, Audrone, Preiksaitiene, Egle, Geier, Christoph, Leiss-Piller, Alexander, Yamazaki, Yasuhiro, Kawai, Tomoki, Walter, Jolan, Kondratenko, Irina, Šedivá, Anna, Van der Burg, Mirjam, Kuzmenko, Natalia, Notarangelo, Luigi, Bernatowska, Ewa, Aleinikova, Olga

العلاقة: Frontiers in Immunology, T. 11; https://ruj.uj.edu.pl/xmlui/handle/item/263820Test

الإتاحة: https://doi.org/10.3389/fimmu.2020.00900Test
https://ruj.uj.edu.pl/xmlui/handle/item/263820Test

المؤلفون: Kyselak, Ondrej, Soska, Vladimir, Kovar, Jan, Tichy, Lukas, Grombirikova, Hana, Hubacek, Jaroslav A., Freiberger, Tomas

المساهمون: Ministerstvo Zdravotnictví Ceské Republiky, Ministerio de Sanidad, Consumo y Bienestar Social

المصدر: Journal of Clinical Lipidology ; volume 15, issue 3, page 435-440 ; ISSN 1933-2874

مصطلحات موضوعية: Cardiology and Cardiovascular Medicine, Nutrition and Dietetics, Endocrinology, Diabetes and Metabolism, Internal Medicine

الإتاحة: https://doi.org/10.1016/j.jacl.2021.04.006Test
https://api.elsevier.com/content/article/PII:S1933287421000647?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1933287421000647?httpAccept=text/plainTest

المؤلفون: Hujová, Pavla, Souček, Přemysl, Grodecká, Lucie, Grombiříková, Hana, Ravčuková, Barbora, Kuklínek, Pavel, Hakl, Roman, Litzman, Jiří, Freiberger, Tomáš

المساهمون: Ministerstvo Zdravotnictví Ceské Republiky, Centre for Cardiovascular Surgery and Transplantation

المصدر: Journal of Clinical Immunology ; volume 40, issue 3, page 435-446 ; ISSN 0271-9142 1573-2592

مصطلحات موضوعية: Immunology, Immunology and Allergy

الإتاحة: https://doi.org/10.1007/s10875-020-00753-2Test

المؤلفون: Prucha, Miroslav, Grombirikova, Hana, Zdrahal, Pavel, Bloomfield, Marketa, Parackova, Zuzana, Freiberger, Tomas

المصدر: Case Reports in Immunology.

مصطلحات موضوعية: Article Subject

وصف الملف: text/xhtml

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=hindawi_publ::124d7990e11b885ac10710d4a6ed97b4Test

المؤلفون: Formankova, Renata, Kanderova, Veronika, Rackova, Marketa, Svaton, Michael, Brdicka, Tomas, Riha, Petr, Keslova, Petra, Mejstrikova, Ester, Zaliova, Marketa, Freiberger, Tomas, Grombirikova, Hana, Zemanova, Zuzana, Vlkova, Marcela, Fencl, Filip, Copova, Ivana, Bronsky, Jiri, Jabandziev, Petr, Sedlacek, Petr, Soukalova, Jana, Zapletal, Ondrej, Stary, Jan, Trka, Jan, Kalina, Tomas, Skvarova Kramarzova, Karolina, Hlavackova, Eva, Litzman, Jiri, Fronkova, Eva

المصدر: Frontiers in Immunology

مصطلحات موضوعية: dysphagia, SAMD9, MIRAGE, Immunology, hematopoietic stem cell transplantation, gastrointestinal disorder, neutropenia, Case Report, cytomegalovirus infection, immunodeficiency

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::4f7e274aa40f5598daf58839635fbcffTest
http://europepmc.org/articles/PMC6759462Test

المؤلفون: Kanderova, Veronika, Grombirikova, Hana, Zentsova, Irena, Reblova, Kamila, Klocperk, Adam, Fejtkova, Martina, Bloomfield, Marketa, Ravcukova, Barbora, Kalina, Tomas, Freiberger, Tomas, Sediva, Anna

مصطلحات موضوعية: Online Only Articles

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::1dd7488dc4724831b768399f2d23849aTest
https://europepmc.org/articles/PMC6312013Test/