検索結果 - Daniel Ben-Isvy
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Loss of CFHR5 function reduces the risk for age-related macular degeneration 著者: Mary Pat Reeve, Stephanie Loomis, Eija Nissilä, Thomas W. Soare, Tobias Rausch, Zhili Zheng, Pietro DELLA BRIOTTA PAROLO, Daniel Ben-Isvy, Elias Aho, Emilia Cesetti, Yoko Okunuki, Helen McLaughlin, Johanna Mäkelä, FinnGen, Mitja Kurki, Michael E. Talkowski, Jan O. Korbel, Kip Connor, Seppo Meri, Mark J. Daly, Heiko Runz
出版年 Nature Communications (2025-07-01)全文の入手
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Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features 著者: Morad Ansari, Kamli N.W. Faour, Akiko Shimamura, Graeme Grimes, Emeline M. Kao, Erica R. Denhoff, Ana Blatnik, Daniel Ben-Isvy, Lily Wang, Benjamin M. Helm, Helen Firth, Amy M. Breman, Emilia K. Bijlsma, Aiko Iwata-Otsubo, Thomy J.L. de Ravel, Vincent Fusaro, Alan Fryer, Keith Nykamp, Lara G. Stühn, Tobias B. Haack, G. Christoph Korenke, Panayiotis Constantinou, Kinga M. Bujakowska, Karen J. Low, Emily Place, Jennifer Humberson, Melanie P. Napier, Jessica Hoffman, Jane Juusola, Matthew A. Deardorff, Wanqing Shao, Shira Rockowitz, Ian Krantz, Maninder Kaur, Sarah Raible, Victoria Dortenzio, Sabine Kliesch, Moriel Singer-Berk, Emily Groopman, Stephanie DiTroia, Sonia Ballal, Siddharth Srivastava, Kathrin Rothfelder, Saskia Biskup, Jessica Rzasa, Jennifer Kerkhof, Haley McConkey, Bekim Sadikovic, Sarah Hilton, Siddharth Banka, Frank Tüttelmann, Donald F. Conrad, Anne O’Donnell-Luria, Michael E. Talkowski, David R. FitzPatrick, Philip M. Boone
出版年 HGG Advances (2024-04-01)全文の入手
論文
