Sosicka, Paulina

SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals

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

Human Mutation | February 28, 2019 | Volume: No volume available | Issue: No issue available | Pages: No page available

10.1002/humu.23731