検索結果 - Amy Calhoun
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P145: Paradigm shift in Occam’s Razor and the need for genotype driven reverse phenotyping in rare diseases with complex phenotypes* 著者: Moon Ley Tung, Bharatendu Chandra, Jaime Nagy, Hatem El-Shanti, John Bernat, Nicole Safina, Amy Calhoun, Georgianne Younger, Kyle Dillahunt, Anna Paulson, Taylor Warner, Hannah Bombei, Jaclyn Kotlarek
出版年 Genetics in Medicine Open (2024-01-01)全文の入手
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The Splicing Efficiency of Activating HRAS Mutations Can Determine Costello Syndrome Phenotype and Frequency in Cancer. 著者: Anne-Mette Hartung, Jeff Swensen, Inaki E Uriz, Morten Lapin, Karen Kristjansdottir, Ulrika S S Petersen, Jeanne Mari V Bang, Barbara Guerra, Henriette Skovgaard Andersen, Steven F Dobrowolski, John C Carey, Ping Yu, Cecily Vaughn, Amy Calhoun, Martin R Larsen, Lars Dyrskjøt, David A Stevenson, Brage S Andresen
出版年 PLoS Genetics (2016-05-01)全文の入手
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