未登录 Guideline for the Diagnosis and Management of Heritable IFNAR1 Deficiency in Oceania 《大洋洲遗传性IFNAR1缺乏症的诊断和管理指南》 Verryt, Cecilia; Gray, Paul; McNaughton, Peter; Peake, Jane; Wong, Melanie; Aho, George; Best, Emma; Brewerton, Maia; Lutui, Flora; Tulifau, Litara Esera; Qin, Rebecca; Viali, Satupaitea; White, Petine; Wood, Andrew; Woon, See- Tarn; Cole, Theresa; Charry, Alberto Pinzon; Hsiao, Kuang- Chih 分享 收藏
Developing a Standardised National Model of Care for Treatment of Peanut Allergy in Infants: The ADAPT Peanut Oral Immunotherapy Program 开发婴儿花生过敏治疗的国家标准化护理模型：ADAPT花生口服免疫疗法项目 Brettig, T. W.; Young, A.; Bhatia, R.; Bosi, I.; Cheung, A.; Czech, H.; Ford, L. S.; Katelaris, C. H.; Lloyd, M.; Loke, P.; McDonald, E.; Metcalfe, J.; O'sullivan, M. D.; Peake, J.; Preece, K.; Quinn, P.; South, C.; Smart, J.; Swamy, S.; Wainstein, B. K.; Wong, M.; Perrett, K. P. 分享 收藏
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Variants in IGLL1 cause a broad phenotype from agammaglobulinemia to transient hypogammaglobulinemia Soomann, Maarja; Bily, Viktor; Elgizouli, Magdeldin; Kraemer, Dennis; Akgul, Gulfirde; von Bernuth, Horst; Bloomfield, Marketa; Brodszki, Nicholas; Candotti, Fabio; Forster-Waldl, Elisabeth; Freiberger, Tomas; Gizewska, Maria; Klocperk, Adam; Koelsch, Uwe; Nichols, Kim E.; Krueger, Renate; Oak, Ninad; Pac, Malorzata; Prader, Seraina; Schmiegelow, Kjeld; Sediva, Anna; Sogkas, Georgios; Stittrich, Anna; Stoltze, Ulrik Kristoffer; Theodoropoulou, Katerina; Wadt, Karin; Wong, Melanie; Zeyda, Maximillian; Schmid, Jana Pachlopnik; Truck, Johannes 分享 收藏
Inborn errors of immunity reveal molecular requirements for generation and maintenance of human CD4+ IL-9-expressing cells 原发性免疫缺陷揭示了产生和维持人类CD4+ IL-9表达细胞的分子需求 Rao, Geetha; Mack, Corinne D.; Nguyen, Tina; Wong, Natalie; Payne, Kathryn; Worley, Lisa; Gray, Paul E.; Wong, Melanie; Hsu, Peter; Stormon, Michael O.; Preece, Kahn; Suan, Daniel; O'Sullivan, Michael; Blincoe, Annaliesse K.; Sinclair, Jan; Okada, Satoshi; Hambleton, Sophie; Arkwright, Peter D.; Boztug, Kaan; Stepensky, Polina; Cooper, Megan A.; Bezrodnik, Liliana; Nadeau, Kari C.; Abraham, Roshini S.; Seppanen, Mikko R. J.; Bustamante, Jacinta; Forbes, Lisa R.; Leiding, Jennifer W.; Meyts, Isabelle; Jouanguy, Emmanuelle; Boisson-Dupuis, Stephanie; Uzel, Gulbu; Tangye, Stuart G.; Ma, Cindy S. 分享 收藏
Identification of Vocal Cord Dysfunction Phenotypes by Latent Class Analysis Gardner, Logan; Denton, Eve; Mahoney, Janine; Stojanovic, Stephanie; Pham, Jonathan; De Silva, Anurika; Lin, Tiffany; Wong, Melanie; Tay, Tunn Ren; Sverrild, Asger; Murthee, Kavitha Garuna; Hore-Lacy, Fiona; Hoy, Ryan; Hew, Mark; Lee, Joy 分享 收藏
A Novel Case of IFNAR1 Deficiency Identified a Common Canonical Splice Site Variant in DOCK8 in Western Polynesia: The Importance of Validating Variants of Unknown Significance in Under-Represented Ancestries (vol 44, 170, 2024) Huynh, Aimee; Gray, Paul; Sullivan, Anna; Mackie, Joseph; Guerin, Antoine; Rao, Geetha; Pathmanandavel, Karrnan; Della Mina, Erika; Hollway, Georgina; Hobbs, Matthew; Enthoven, Karen; O'Young, Patrick; Mcmanus, Sam; Wainwright, Luke H.; Higgins, Megan; Noon, Fallon; Wong, Melanie; Bastard, Paul; Zhang, Qian; Casanova, Jean-Laurent; Hsiao, Kuang-Chih; Pinzon-Charry, Alberto; Ma, Cindy; Tangye, Stuart G. 分享 收藏
A Novel Case of IFNAR1 Deficiency Identified a Common Canonical Splice Site Variant in DOCK8 in Western Polynesia: The Importance of Validating Variants of Unknown Significance in Under-Represented Ancestries Huynh, Aimee; Gray, Paul E.; Sullivan, Anna; Mackie, Joseph; Guerin, Antoine; Rao, Geetha; Pathmanandavel, Karrnan; Della Mina, Erika; Hollway, Georgina; Hobbs, Matthew; Enthoven, Karen; O'Young, Patrick; McManus, Sam; Wainwright, Luke H.; Higgins, Megan; Noon, Fallon; Wong, Melanie; Bastard, Paul; Zhang, Qian; Casanova, Jean-Laurent; Hsiao, Kuang-Chih; Pinzon-Charry, Alberto; Ma, Cindy S.; Tangye, Stuart G. 分享 收藏
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Ketogenic diet modifies ribosomal protein dysregulation in KMT2D Kabuki syndrome Tsang, Erica; Han, Velda X.; Flutter, Chloe; Alshammery, Sarah; Keating, Brooke A.; Williams, Tracey; Gloss, Brian S.; Graham, Mark E.; Aryamanesh, Nader; Pang, Ignatius; Wong, Melanie; Winlaw, David; Cardamone, Michael; Mohammad, Shekeeb; Gold, Wendy; Patel, Shrujna; Dale, Russell C. 分享 收藏
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Human PIK3R1 mutations disrupt lymphocyte differentiation to cause activated PI3Kδ syndrome 2 Nguyen, Tina; Lau, Anthony; Bier, Julia; Cooke, Kristen C.; Lenthall, Helen; Ruiz-Diaz, Stephanie; Avery, Danielle T.; Brigden, Henry; Zahra, David; Sewell, William A.; Droney, Luke; Okada, Satoshi; Asano, Takaki; Abolhassani, Hassan; Chavoshzadeh, Zahra; Abraham, Roshini S.; Rajapakse, Nipunie; Klee, Eric W.; Church, Joseph A.; Williams, Andrew; Wong, Melanie; Burkhart, Christoph; Uzel, Gulbu; Croucher, David R.; James, David E.; Ma, Cindy S.; Brink, Robert; Tangye, Stuart G.; Deenick, Elissa K. 分享 收藏
Identification and analysis of deletion breakpoints in four Mohr-TranebjÆrg syndrome (MTS) patients Rendtorff, Nanna Dahl; Karstensen, Helena Gasdal; Lodahl, Marianne; Tolmie, John; McWilliam, Catherine; Bak, Mads; Tommerup, Niels; Nazaryan-Petersen, Lusine; Kunst, Henricus; Wong, Melanie; Joss, Shelagh; Carelli, Valerio; Tranebjaerg, Lisbeth 分享 收藏
Human T-bet governs the generation of a distinct subset of CD11chighCD21low B cells 人类t-bet控制CD11chighCD21low b细胞不同亚群的产生 Yang, Rui; Avery, Danielle T.; Jackson, Katherine J. L.; Ogishi, Masato; Benhsaien, Ibtihal; Du, Likun; Ye, Xiaofei; Han, Jing; Rosain, Jeremie; Peel, Jessica N.; Alyanakian, Marie-Alexandra; Neven, Benedicte; Winter, Sarah; Puel, Anne; Boisson, Bertrand; Payne, Kathryn J.; Wong, Melanie; Russell, Amanda J.; Mizoguchi, Yoko; Okada, Satoshi; Uzel, Gulbu; Goodnow, Christopher C.; Latour, Sylvain; El Bakkouri, Jalila; Bousfiha, Aziz; Preece, Kahn; Gray, Paul E.; Keller, Baerbel; Warnatz, Klaus; Boisson-Dupuis, Stephanie; Abel, Laurent; Pan-Hammarstrom, Qiang; Bustamante, Jacinta; Ma, Cindy S.; Casanova, Jean-Laurent; Tangye, Stuart G. 分享 收藏
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Assessing the impact of the 13 valent pneumococcal vaccine on childhood empyema in Australia Strachan, Roxanne; Homaira, Nusrat; Beggs, Sean; Bhuiyan, Mejbah U.; Gilbert, Gwendolyn L.; Lambert, Stephen B.; Macartney, Kristine; Marshall, Helen; Martin, Andrew C.; McCallum, Gabrielle B.; McCullagh, Angela; McDonald, Tim; McIntyre, Peter; Oftadeh, Shahin; Ranganathan, Sarath; Suresh, Sadasivam; Wainwright, Claire E.; Wilson, Angela; Wong, Melanie; Snelling, Thomas; Jaffe, Adam 分享 收藏
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