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Published in Nature (London) (02.01.2020)
Published in Nature (London) (02.01.2020)
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Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease
Zhou, Qing, Wang, Hongying, Schwartz, Daniella M, Stoffels, Monique, Park, Yong Hwan, Zhang, Yuan, Yang, Dan, Demirkaya, Erkan, Takeuchi, Masaki, Tsai, Wanxia Li, Lyons, Jonathan J, Yu, Xiaomin, Ouyang, Claudia, Chen, Celeste, Chin, David T, Zaal, Kristien, Chandrasekharappa, Settara C, P Hanson, Eric, Yu, Zhen, Mullikin, James C, Hasni, Sarfaraz A, Wertz, Ingrid E, Ombrello, Amanda K, Stone, Deborah L, Hoffmann, Patrycja, Jones, Anne, Barham, Beverly K, Leavis, Helen L, van Royen-Kerkof, Annet, Sibley, Cailin, Batu, Ezgi D, Gül, Ahmet, Siegel, Richard M, Boehm, Manfred, Milner, Joshua D, Ozen, Seza, Gadina, Massimo, Chae, JaeJin, Laxer, Ronald M, Kastner, Daniel L, Aksentijevich, Ivona
Published in Nature genetics (01.01.2016)
Published in Nature genetics (01.01.2016)
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PFAPA: a single phenotype with genetic heterogeneity
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Published in Pediatric rheumatology online journal (13.07.2012)
Published in Pediatric rheumatology online journal (13.07.2012)
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Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
Zhou, Qing, Yang, Dan, Ombrello, Amanda K, Zavialov, Andrey V, Toro, Camilo, Zavialov, Anton V, Stone, Deborah L, Chae, Jae Jin, Rosenzweig, Sergio D, Bishop, Kevin, Barron, Karyl S, Kuehn, Hye Sun, Hoffmann, Patrycja, Negro, Alejandra, Tsai, Wanxia L, Cowen, Edward W, Pei, Wuhong, Milner, Joshua D, Silvin, Christopher, Heller, Theo, Chin, David T, Patronas, Nicholas J, Barber, John S, Lee, Chyi-Chia R, Wood, Geryl M, Ling, Alexander, Kelly, Susan J, Kleiner, David E, Mullikin, James C, Ganson, Nancy J, Kong, Heidi H, Hambleton, Sophie, Candotti, Fabio, Quezado, Martha M, Calvo, Katherine R, Alao, Hawwa, Barham, Beverly K, Jones, Anne, Meschia, James F, Worrall, Bradford B, Kasner, Scott E, Rich, Stephen S, Goldbach-Mansky, Raphaela, Abinun, Mario, Chalom, Elizabeth, Gotte, Alisa C, Punaro, Marilynn, Pascual, Virginia, Verbsky, James W, Torgerson, Troy R, Singer, Nora G, Gershon, Timothy R, Ozen, Seza, Karadag, Omer, Fleisher, Thomas A, Remmers, Elaine F, Burgess, Shawn M, Moir, Susan L, Gadina, Massimo, Sood, Raman, Hershfield, Michael S, Boehm, Manfred, Kastner, Daniel L, Aksentijevich, Ivona
Published in The New England journal of medicine (06.03.2014)
Published in The New England journal of medicine (06.03.2014)
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Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early onset autoinflammatory syndrome
Zhou, Qing, Wang, Hongying, Schwartz, Daniella M., Stoffels, Monique, Park, Yong Hwan, Zhang, Yuan, Yang, Dan, Demirkaya, Erkan, Takeuchi, Masaki, Tsai, Wanxia Li, Lyons, Jonathan J., Yu, Xiaomin, Ouyang, Claudia, Chen, Celeste, Chin, David T., Zaal, Kristien, Chandrasekharappa, Settara C., Hanson, Eric P., Yu, Zhen, Mullikin, James C., Hasni, Sarfaraz A., Wertz, Ingrid, Ombrello, Amanda K., Stone, Deborah L., Hoffmann, Patrycja, Jones, Anne, Barham, Beverly K., Leavis, Helen L., van Royen-Kerkof, Annet, Sibley, Cailin, Batu, Ezgi D., Gül, Ahmet, Siegel, Richard M., Boehm, Manfred, Milner, Joshua D., Ozen, Seza, Gadina, Massimo, Chae, JaeJin, Laxer, Ronald M., Kastner, Daniel L., Aksentijevich, Ivona
Published in Nature genetics (07.12.2015)
Published in Nature genetics (07.12.2015)
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