未登录Heterozygous mutations in the C-terminal domain of COPA underlie a complex autoinflammatory syndrome
Delafontaine, Selket; Iannuzzo, Alberto; Bigley, Tarin M.; Mylemans, Bram; Rana, Ruchit; Baatsen, Pieter; Poli, Maria Cecilia; Rymen, Daisy; Jansen, Katrien; Mekahli, Djalila; Casteels, Ingele; Cassiman, Catherine; Demaerel, Philippe; Lepelley, Alice; Fremond, Marie -Louise; Schrijvers, Rik; Bossuyt, Xavier; Vints, Katlijn; Huybrechts, Wim; Tacine, Rachida; Willekens, Karen; Corveleyn, Anniek; Boeckx, Bram; Baggio, Marco; Ehlers, Lisa; Munck, Sebastian; Lambrechts, Diether; Voet, Arnout; Moens, Leen; Bucciol, Giorgia; Cooper, Megan A.; Davis, Carla M.; Delon, Jerome; Meyts, Isabelle .png)
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收藏Clinical application of multigene panel testing for bleeding, thrombotic, and platelet disorders: a 3-year Belgian experienceVan Laer, Christine; Jacquemin, Marc; Baert, Sarissa; Labarque, Veerle; Thys, Chantal; Vanassche, Thomas; Van Geet, Chris; Verhamme, Peter; Willekens, Karen; Corveleyn, Anniek; Peerlinck, Kathelijne; Freson, Kathleen 分享 收藏 Respiratory viral infections in otherwise healthy humans with inherited IRF7 deficiency (vol 219, e20220202, 2022)Campbell, Tessa Mollie; Liu, Zhiyong; Zhang, Qian; Moncada-Velez, Marcela; Covill, Laura E.; Zhang, Peng; Darazam, Ilad Alavi; Bastard, Paul; Bizien, Lucy; Bucciol, Giorgia; Enoksson, Sara Lind; Jouanguy, Emmanuelle; Karabela, Semsi Nur; Khan, Taushif; Kendir-Demirkol, Yasemin; Arias, Andres Augusto; Mansouri, Davood; Marits, Per; Marr, Nico; Migeotte, Isabelle; Moens, Leen; Ozcelik, Tayfun; Pellier, Isabelle; Sendel, Anton; Senoglu, Sevtap; Shahrooei, Mohammad; Smith, C. I. Edvard; Vandernoot, Isabelle; Willekens, Karen; Yasar, Kadriye Kart; COVID Human Genetic Effort, Peter; Bergman, Peter; Abel, Laurent; Cobat, Aurelie; Casanova, Jean-Laurent; Meyts, Isabelle T.; Bryceson, Yenan 分享 收藏 Common variable immunodeficiency in two kindreds with heterogeneous phenotypes caused by novel heterozygous NFKB1 mutations由新的杂合NFKB1突变引起的具有异质表型的两个家族的常见可变免疫缺陷Staels, Frederik; De Keukeleere, Kerstin; Kinnunen, Matias; Keskitalo, Salla; Lorenzetti, Flaminia; Vanmeert, Michiel; Prezzemolo, Teresa; Pasciuto, Emanuela; Lescrinier, Eveline; Bossuyt, Xavier; Gerbaux, Margaux; Willemsen, Mathijs; Neumann, Julika; Van Loo, Sien; Corveleyn, Anniek; Willekens, Karen; Stalmans, Ingeborg; Meyts, Isabelle; Liston, Adrian; Humblet-Baron, Stephanie; Seppanen, Mikko; Varjosalo, Markku; Schrijvers, Rik 分享 收藏 Respiratory viral infections in otherwise healthy humans with inherited IRF7 deficiencyCampbell, Tessa Mollie; Liu, Zhiyong; Zhang, Qian; Moncada-Velez, Marcela; Covill, Laura E.; Zhang, Peng; Darazam, Ilad Alavi; Bastard, Paul; Bizien, Lucy; Bucciol, Giorgia; Enoksson, Sara Lind; Jouanguy, Emmanuelle; Karabela, Semsi Nur; Khan, Taushif; Kendir-Demirkol, Yasemin; Augusto Arias, Andres; Mansouri, Davood; Marits, Per; Marr, Nico; Migeotte, Isabelle; Moens, Leen; Ozcelik, Tayfun; Pellier, Isabelle; Sendel, Anton; Senoglu, Sevtap; Shahrooei, Mohammad; Smith, C. I. Edvard; Vandernoot, Isabelle; Willekens, Karen; Yasar, Kadriye Kart; Bergman, Peter; Abel, Laurent; Cobat, Aurelie; Casanova, Jean-Laurent; Meyts, Isabelle; Bryceson, Yenan T. 分享 收藏 分享 收藏 分享 收藏 分享 收藏 Antisense oligonucleotide-mediated MDM4 exon 6 skipping impairs tumor growthDewaele, Michael; Tabaglio, Tommaso; Willekens, Karen; Bezzi, Marco; Teo, Shun Xie; Low, Diana H. P.; Koh, Cheryl M.; Rambow, Florian; Fiers, Mark; Rogiers, Aljosja; Radaelli, Enrico; Al-Haddawi, Muthafar; Tan, Soo Yong; Hermans, Els; Amant, Frederic; Yan, Hualong; Lakshmanan, Manikandan; Koumar, Ratnacaram Chandrahas; Lim, Soon Thye; Derheimer, Frederick A.; Campbell, Robert M.; Bonday, Zahid; Tergaonkar, Vinay; Shackleton, Mark; Blattner, Christine; Marine, Jean-Christophe; Guccione, Ernesto 分享 收藏 分享 收藏 分享 收藏 分享 收藏 Glaucoma patients have a significant decrease in retrobulbar blood flow velocities during general anesthesiaPinto, L. Abegao; Vandewalle, E.; Willekens, K.; Van Keer, K.; Van Calster, J.; Stalmans, P.; Vertommen, J.; Deckers, K.; Marques-Neves, C.; Stalmans, I. 分享 收藏 Different Levels of Twist1 Regulate Skin Tumor Initiation, Stemness, and ProgressionBeck, Benjamin; Lapouge, Gaelle; Rorive, Sandrine; Drogat, Benjamin; Desaedelaere, Kylie; Delafaille, Stephanie; Dubois, Christine; Salmon, Isabelle; Willekens, Karen; Marine, Jean-Christophe; Blanpain, Cedric 分享 收藏 分享 收藏 分享 收藏 
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