検索結果 - Toby Candler
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O13: Oral infigratinib for children with achondroplasia: Month 18 results from the PROPEL 2 study 著者: Ravi Savarirayan, Elena Muslimova, Josep Bergua, Paul Arundel, Jean Salles, Vrinda Saraff, Borja Delgado, Antonio Leiva-Gea, Helen McDevitt, Marc Nicolino, Massimiliano Rossi, Maria Salcedo, Valerie Cormier-Daire, Mars Skael, Peter Kannu, John Phillips, Howard Saal, Paul Harmatz, Toby Candler, Richard Weng, Yun Bai, Supriya Raj, Julie Hoover-Fong, Melita Irving, Daniela Rogoff
出版年 Genetics in Medicine Open (2025-01-01)全文の入手
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Systematic identification of disease-causing promoter and untranslated region variants in 8040 undiagnosed individuals with rare disease 著者: Alexandra C. Martin-Geary, Alexander J.M. Blakes, Ruebena Dawes, Scott D. Findlay, Jenny Lord, Shan Dong, Susan Walker, Jonathan Talbot-Martin, Nechama Wieder, Elston N. D’Souza, Maria Fernandes, Sarah Hilton, Nayana Lahiri, Christopher Campbell, Sarah Jenkinson, Christian G.E.L. DeGoede, Emily R. Anderson, Toby Candler, Helen Firth, Christopher B. Burge, Stephan J. Sanders, Jamie Ellingford, Diana Baralle, Siddharth Banka, Nicola Whiffin
出版年 Genome Medicine (2025-04-01)全文の入手
論文
