検索結果 - Calhoun, Amy

Misclassification of VLCAD carriers due to variable confirmatory testing after a positive NBS result 著者: Atkins, Anne E., Tarini, Beth A., Phillips, Emily K., Calhoun, Amy R. U. L.

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Next Generation Sequencing in Endocrine Practice 著者: Forlenza, Gregory P., Calhoun, Amy, Beckman, Kenneth B., Halvorsen, Tanya, Hamdoun, Elwaseila, Zierhut, Heather, Sarafoglou, Kyriakie, Polgreen, Lynda E., Miller, Bradley S., Nathan, Brandon, Petryk, Anna

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Chromosomal microarray testing identifies a 4p terminal region associated with seizures in Wolf–Hirschhorn syndrome 著者: Ho, Karen S, South, Sarah T, Lortz, Amanda, Hensel, Charles H, Sdano, Mallory R, Vanzo, Rena J, Martin, Megan M, Peiffer, Andreas, Lambert, Christophe G, Calhoun, Amy, Carey, John C, Battaglia, Agatino

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MUC1* Ligand, NM23-H1, Is a Novel Growth Factor That Maintains Human Stem Cells in a More Naïve State 著者: Smagghe, Benoit J., Stewart, Andrew K., Carter, Mark G., Shelton, Laura M., Bernier, Kyle J., Hartman, Eric J., Calhoun, Amy K., Hatziioannou, Vasilios M., Lillacci, Gabriele, Kirk, Brian A., DiNardo, Brian A., Kosik, Kenneth S., Bamdad, Cynthia

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The Splicing Efficiency of Activating HRAS Mutations Can Determine Costello Syndrome Phenotype and Frequency in Cancer 著者: Hartung, Anne-Mette, Swensen, Jeff, Uriz, Inaki E., Lapin, Morten, Kristjansdottir, Karen, Petersen, Ulrika S. S., Bang, Jeanne Mari V., Guerra, Barbara, Andersen, Henriette Skovgaard, Dobrowolski, Steven F., Carey, John C., Yu, Ping, Vaughn, Cecily, Calhoun, Amy, Larsen, Martin R., Dyrskjøt, Lars, Stevenson, David A., Andresen, Brage S.

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De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay 著者: Yang, Hui, Douglas, Ganka, Monaghan, Kristin G., Retterer, Kyle, Cho, Megan T., Escobar, Luis F., Tucker, Megan E., Stoler, Joan, Rodan, Lance H., Stein, Diane, Marks, Warren, Enns, Gregory M., Platt, Julia, Cox, Rachel, Wheeler, Patricia G., Crain, Carrie, Calhoun, Amy, Tryon, Rebecca, Richard, Gabriele, Vitazka, Patrik, Chung, Wendy K.

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