Search Results - David Rinker
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P328: The contribution of mosaicism to genetic diseases and presumed de novo mutations* by Rory Tinker, Lisa Bastarache, Kimberly Ezell, Shilpa Nadimpalli Kobren, Cecilia Esteves, Rizwan Hamid, Joy Cogan, David Rinker, Souhrid Mukharjee, John A. Phillips
Published in Genetics in Medicine Open (2023-01-01)Get full text
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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... by 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
Published in Molecular Genetics and Metabolism Reports (2024-12-01)Get full text
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Evolutionary origin and population diversity of a cryptic hybrid pathogen by Jacob L. Steenwyk, Sonja Knowles, Rafael W. Bastos, Charu Balamurugan, David Rinker, Matthew E. Mead, Christopher D. Roberts, Huzefa A. Raja, Yuanning Li, Ana Cristina Colabardini, Patrícia Alves de Castro, Thaila Fernanda dos Reis, Adiyantara Gumilang, María Almagro-Molto, Alexandre Alanio, Dea Garcia-Hermoso, Endrews Delbaje, Laís Pontes, Camila Figueiredo Pinzan, Angélica Zaninelli Schreiber, David Canóvas, Rafael Sanchez Luperini, Katrien Lagrou, Egídio Torrado, Fernando Rodrigues, Nicholas H. Oberlies, Xiaofan Zhou, Gustavo H. Goldman, Antonis Rokas
Published in Nature Communications (2024-09-01)Get full text
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