ALG1-CDG: clinical and molecular characterization of 39 unreported patients
- Creator: Ng, Bobby G. , Shiryaev, Sergey A. , Barone, Rita , Berry, Gerard T. , Brumbaugh, Jane E. , Buckingham, Kati J. , Clarkson, Katie , Cole, F. Sessions , O'Connor, Shawn , Cooper, Gregory M. , Van Coster, Rudy , Demmer, Laurie A. , Rymen, Daisy , Diogo, Luisa , Fay, Alexander J. , Ficicioglu, Can , Fiumara, Agata , Gahl, William A. , Ganetzky, Rebecca , Goel, Himanshu , Harshman, Lyndsay A. , He, Miao , Jaeken, Jaak , Eklund, Erik A. , James, Philip M. , Katz, Daniel , Keldermans, Liesbeth , Kibaek, Maria , Kornberg, Andrew J. , Lachlan, Katherine , Lam, Christina , Yaplito-Lee, Joy , Nickerson, Deborah A. , Peters, Heidi L. , Raymond, Kimiyo , Race, Valerie , Régal, Luc , Rush, Jeffrey S. , Rutledge, S. Lane , Shendure, Jay , Souche, Erika , Sparks, Susan E. , Trapane, Pamela , Sanchez-Valle, Amarillis , Vilain, Eric , Kircher, Martin , Vøllo, Arve , Waechter, Charles J. , Wang, Raymond Y. , Wolfe, Lynne A. , Wong, Derek A. , Wood, Tim , Yang, Amy C. , Matthijs, Gert , Freeze, Hudson H. , University of Washington Center for Mendelian Genomics , Abdenur, Jose E. , Alehan, Fusun , Midro, Alina T. , Bamshad, Michael J.
- Resource Type: journal article
- Date: 2016
Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation
- Creator: Molinari, Florence , Foulquier, François , Matthijs, Gert , Gecz, Jozef , Munnich, Arnold , Colleaux, Laurence , Tarpey, Patrick S. , Morelle, Willy , Boissel, Sarah , Teague, Jon , Edkins, Sarah , Futreal, P. Andrew , Stratton, Michael R. , Turner, Gillian
- Resource Type: journal article
- Date: 2008