Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation
- 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
- 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
ALG1-CDG: clinical and molecular characterization of 39 unreported patients
- 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.
- 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
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