Publication
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients
HUMAN MUTATION
Bobby G. Ng, Sergey A. Shiryaev, Daisy Rymen, Erik A. Eklund, Kimiyo Raymond, Martin Kircher, Jose E. Abdenur, Fusun Alehan, Alina T. Midro, Michael J. Bamshad, Rita Barone, Gerard T. Berry, Jane E. Brumbaugh, Kati J. Buckingham, Katie Clarkson, F. Sessions Cole, Shawn O'Connor, Gregory M. Cooper, Rudy Van Coster, Laurie A. Demmer, Luisa Diogo, Alexander J. Fay, Can Ficicioglu, Agata Fiumara, William A. Gahl, Rebecca Ganetzky, Himanshu Goel, Lyndsay A. Harshman, Miao He, Jaak Jaeken, Philip M. James, Daniel Katz, Liesbeth Keldermans, Maria Kibaek, Andrew J. Kornberg, Katherine Lachlan, Christina Lam, Joy Yaplito-Lee, Deborah A. Nickerson, Heidi L. Peters, Valerie Race, Luc Régal, Jeffrey S. Rush, S. Lane Rutledge, Jay Shendure, Erika Souche, Susan E. Sparks, Pamela Trapane, Amarilis Sanchez-Valle, Eric Vilain, Arve Vøllo, Charles J. Waechter, Raymond Y. Wang, Lynne A. Wolfe, Derek A. Wong, Tim Wood, Amy C. Yang, Gert Matthijs, Hudson H. Freeze
Human Mutation, March 2016, Wiley
DOI: 10.1002/humu.22983