検索結果 - J. Tinker
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A review of multiple diagnostic approaches in the undiagnosed diseases network to identify inherited metabolic diseases 著者: Yutaka Furuta, Rory J. Tinker, Rizwan Hamid, Joy D. Cogan, Kimberly M. Ezell, Devin Oglesbee, Ralph J. DeBerardinis, John A. Phillips, the Undiagnosed Diseases Network
出版年 Orphanet Journal of Rare Diseases (2024-11-01)全文の入手
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A novel, likely pathogenic variant in UBTF‐related neurodegeneration with brain atrophy is associated with a severe divergent neurodevelopmental phenotype 著者: Rory J. Tinker, Tiffany Guess, David C. Rinker, Jonathan H. Sheehan, Daniel Lubarsky, Binu Porath, Mackenzie Mosera, Ping Mayo, Emily Solem, Laura A. Lee, Asha Sarma, Jennifer Brault
出版年 Molecular Genetics & Genomic Medicine (2022-12-01)全文の入手
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Projected sea level rise and changes in extreme storm surge and wave events during the 21st century in the region of Singapore 著者: H. Cannaby, M. D. Palmer, T. Howard, L. Bricheno, D. Calvert, J. Krijnen, R. Wood, J. Tinker, C. Bunney, J. Harle, A. Saulter, C. O'Neill, C. Bellingham, J. Lowe
出版年 Ocean Science (2016-05-01)全文の入手
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Review and metabolomic profiling of unsolved case reveals newly reported autosomal dominant congenital disorder of glycosylation, type Iw formerly thought to only be an autosomal r... 著者: Kimberly M. Ezell, Yutaka Furuta, Devin Oglesbee, Eniko K. Pivnick, David Rinker, Jonathan H. Sheehan, Rory J. Tinker, Rizwan Hamid, Joy D. Cogan, Lynette Rives, Serena Neumann, Brian Corner, Mary Koziura, John A. Phillips, III
出版年 Molecular Genetics and Metabolism Reports (2024-12-01)全文の入手
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Genomic Analyses of Potential Novel Recombinant Human Adenovirus C in Brazil 著者: Roozbeh Tahmasebi, Antonio Charlys da Costa, Kaelan Tardy, Rory J. Tinker, Flavio Augusto de Padua Milagres, Rafael Brustulin, Maria da Aparecida Rodrigues Teles, Rogério Togisaki das Chagas, Cassia Vitória de Deus Alves Soares, Aripuana Sakurada Aranha Watanabe, Cecilia Salete Alencar, Fabiola Villanova, Xutao Deng, Eric Delwart, Adriana Luchs, Élcio Leal, Ester Cerdeira Sabino
出版年 Viruses (2020-05-01)全文の入手
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