檢索結果 - Pazmandi, Julia
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Common Genetic Variants of the Human Steroid 21-Hydroxylase Gene (CYP21A2) Are Related to Differences in Circulating Hormone Levels 由 Doleschall, Márton, Szabó, Julianna Anna, Pázmándi, Júlia, Szilágyi, Ágnes, Koncz, Klára, Farkas, Henriette, Tóth, Miklós, Igaz, Péter, Gláz, Edit, Prohászka, Zoltán, Korbonits, Márta, Rácz, Károly, Füst, George, Patócs, Attila
出版 2014Text -
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RhoG deficiency abrogates cytotoxicity of human lymphocytes and causes hemophagocytic lymphohistiocytosis 由 Kalinichenko, Artem, Perinetti Casoni, Giovanna, Dupré, Loïc, Trotta, Luca, Huemer, Jakob, Galgano, Donatella, German, Yolla, Haladik, Ben, Pazmandi, Julia, Thian, Marini, Yüce Petronczki, Özlem, Chiang, Samuel C., Taskinen, Mervi, Hekkala, Anne, Kauppila, Saila, Lindgren, Outi, Tapiainen, Terhi, Kraakman, Michael J., Vettenranta, Kim, Lomakin, Alexis J., Saarela, Janna, Seppänen, Mikko R. J., Bryceson, Yenan T., Boztug, Kaan
出版 2021Text -
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F-BAR domain only protein 1 (FCHO1) deficiency is a novel cause of combined immune deficiency in humans 由 Calzoni, Enrica, Platt, Craig D., Keles, Sevgi, Kuehn, Hye Sun, Beaussant-Cohen, Sarah, Zhang, Yu, Pazmandi, Julia, Lanzi, Gaetana, Pala, Francesca, Tahiat, Azzeddine, Artac, Hasibe, Heredia, Raul Jimenez, Dmytrus, Jasmin, Reisli, Ismail, Uygun, Vedat, Uygun, Dilara, Bingol, Aysen, Basaran, Erdem, Djenouhat, Kamel, Benhalla, Nafissa, Bendahmane, Chafa, Emiroglu, Melike, Kirchhausen, Tom, Pasham, Mithun, Jones, Jennifer, Wallace, Jacqueline G., Zheng, Lixin, Boisson, Bertrand, Porta, Fulvio, Rosenzweig, Sergio D., Su, Helen, Giliani, Silvia, Lenardo, Michael, Geha, Raif S., Boztug, Kaan, Chou, Janet, Notarangelo, Luigi D.
出版 2019Text -
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Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity 由 Haimel, Matthias, Pazmandi, Julia, Heredia, Raú Jiménez, Dmytrus, Jasmin, Bal, Sevgi Köstel, Zoghi, Samaneh, van Daele, Paul, Briggs, Tracy A., Wouters, Carine, Bader-Meunier, Brigitte, Aeschlimann, Florence A., Caorsi, Roberta, Eleftheriou, Despina, Hoppenreijs, Esther, Salzer, Elisabeth, Bakhtiar, Shahrzad, Derfalvi, Beata, Saettini, Francesco, Kusters, Maaike A. A., Elfeky, Reem, Trück, Johannes, Rivière, Jacques G., van der Burg, Mirjam, Gattorno, Marco, Seidel, Markus G., Burns, Siobhan, Warnatz, Klaus, Hauck, Fabian, Brogan, Paul, Gilmour, Kimberly C., Schuetz, Catharina, Simon, Anna, Bock, Christoph, Hambleton, Sophie, de Vries, Esther, Robinson, Peter N., van Gijn, Marielle, Boztug, Kaan
出版 2022Text -
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The Human Phenotype Ontology in 2021 由 Köhler, Sebastian, Gargano, Michael, Matentzoglu, Nicolas, Carmody, Leigh C, Lewis-Smith, David, Vasilevsky, Nicole A, Danis, Daniel, Balagura, Ganna, Baynam, Gareth, Brower, Amy M, Callahan, Tiffany J, Chute, Christopher G, Est, Johanna L, Galer, Peter D, Ganesan, Shiva, Griese, Matthias, Haimel, Matthias, Pazmandi, Julia, Hanauer, Marc, Harris, Nomi L, Hartnett, Michael J, Hastreiter, Maximilian, Hauck, Fabian, He, Yongqun, Jeske, Tim, Kearney, Hugh, Kindle, Gerhard, Klein, Christoph, Knoflach, Katrin, Krause, Roland, Lagorce, David, McMurry, Julie A, Miller, Jillian A, Munoz-Torres, Monica C, Peters, Rebecca L, Rapp, Christina K, Rath, Ana M, Rind, Shahmir A, Rosenberg, Avi Z, Segal, Michael M, Seidel, Markus G, Smedley, Damian, Talmy, Tomer, Thomas, Yarlalu, Wiafe, Samuel A, Xian, Julie, Yüksel, Zafer, Helbig, Ingo, Mungall, Christopher J, Haendel, Melissa A, Robinson, Peter N
出版 2020Text