1. SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals
- Author
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Ng, Bobby G., primary, Sosicka, Paulina, additional, Agadi, Satish, additional, Almannai, Mohammed, additional, Bacino, Carlos A., additional, Barone, Rita, additional, Botto, Lorenzo D., additional, Burton, Jennifer E., additional, Carlston, Colleen, additional, Chung, Brian Hon‐Yin, additional, Cohen, Julie S., additional, Coman, David, additional, Dipple, Katrina M., additional, Dorrani, Naghmeh, additional, Dobyns, William B., additional, Elias, Abdallah F., additional, Epstein, Leon, additional, Gahl, William A., additional, Garozzo, Domenico, additional, Hammer, Trine Bjørg, additional, Haven, Jaclyn, additional, Héron, Delphine, additional, Herzog, Matthew, additional, Hoganson, George E., additional, Hunter, Jesse M., additional, Jain, Mahim, additional, Juusola, Jane, additional, Lakhani, Shenela, additional, Lee, Hane, additional, Lee, Joy, additional, Lewis, Katherine, additional, Longo, Nicola, additional, Lourenço, Charles Marques, additional, Mak, Christopher C.Y., additional, McKnight, Dianalee, additional, Mendelsohn, Bryce A., additional, Mignot, Cyril, additional, Mirzaa, Ghayda, additional, Mitchell, Wendy, additional, Muhle, Hiltrud, additional, Nelson, Stanley F., additional, Olczak, Mariusz, additional, Palmer, Christina G.S., additional, Partikian, Arthur, additional, Patterson, Marc C., additional, Pierson, Tyler M., additional, Quinonez, Shane C., additional, Regan, Brigid M., additional, Ross, M. Elizabeth, additional, Guillen Sacoto, Maria J., additional, Scaglia, Fernando, additional, Scheffer, Ingrid E., additional, Segal, Devorah, additional, Singhal, Nilika Shah, additional, Striano, Pasquale, additional, Sturiale, Luisa, additional, Symonds, Joseph D., additional, Tang, Sha, additional, Vilain, Eric, additional, Willis, Mary, additional, Wolfe, Lynne A., additional, Yang, Hui, additional, Yano, Shoji, additional, Powis, Zöe, additional, Suchy, Sharon F., additional, Rosenfeld, Jill A., additional, Edmondson, Andrew C., additional, Grunewald, Stephanie, additional, and Freeze, Hudson H., additional
- Published
- 2019
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