Arama Sonuçları - Calhoun, Amy

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

Tam Metin Erişim Tam Metin Erişim Tam Metin Erişim

Next Generation Sequencing in Endocrine Practice Yazar: 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

Tam Metin Erişim Tam Metin Erişim Tam Metin Erişim

Chromosomal microarray testing identifies a 4p terminal region associated with seizures in Wolf–Hirschhorn syndrome Yazar: 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

Tam Metin Erişim Tam Metin Erişim Tam Metin Erişim

MUC1* Ligand, NM23-H1, Is a Novel Growth Factor That Maintains Human Stem Cells in a More Naïve State Yazar: 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

Tam Metin Erişim Tam Metin Erişim Tam Metin Erişim

The Splicing Efficiency of Activating HRAS Mutations Can Determine Costello Syndrome Phenotype and Frequency in Cancer Yazar: 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.

Tam Metin Erişim Tam Metin Erişim Tam Metin Erişim

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 Yazar: 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.

Tam Metin Erişim Tam Metin Erişim Tam Metin Erişim