Torthaí cuardaigh - Calhoun, Amy

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

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Next Generation Sequencing in Endocrine Practice de réir 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 de réir 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 de réir 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 de réir 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 de réir 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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