未登录 Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity Haimel, Matthias; Pazmandi, Julia; Heredia, Raul Jimenez; Dmytrus, Jasmin; Bal, Sevgi Koestel; 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; Truck, Johannes; Riviere, 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 分享 收藏
The VRNetzer platform enables interactive network analysis in Virtual Reality Pirch, Sebastian; Mueller, Felix; Iofinova, Eugenia; Pazmandi, Julia; Huetter, Christiane V. R.; Chiettini, Martin; Sin, Celine; Boztug, Kaan; Podkosova, Iana; Kaufmann, Hannes; Menche, Joerg 分享 收藏
The Human Phenotype Ontology in 2021 人类表型本体2021年 Koehler, 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; Yueksel, Zafer; Helbig, Ingo; Mungall, Christopher J.; Haendel, Melissa A.; Robinson, Peter N. 分享 收藏
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F-BAR domain only protein 1 (FCHO1) deficiency is a novel cause of combined immune deficiency in human subjects 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, Tomas; 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. 分享 收藏
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