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
- Peluso, Francesca, Caraffi, Stefano G., Bisgaard, Anne-Marie, Ivanovski, Ivan, Maitz, Silvia, Brischoux-Boucher, Elise, Carter, Melissa T., Dentici, Maria Lisa, Devriendt, Koenraad, Bellini, Melissa, Digilio, Maria Cristina, Doja, Asif, Contrò, Gianluca, Dyment, David A., Farholt, Stense, Ferreira, Carlos R., Wolfe, Lynne A., Gahl, William A., Gnazzo, Maria, Goel, Himanshu, Gronborg, Sabine Weller, Hammer, Trine, Iughetti, Lorenzo, Valeri, Lara, Kleefstra, Tjitske, Koolen, David A., Lepri, Francesca Romana, Lemire, Gabrielle, Louro, Pedro, McCullagh, Gary, Madeo, Simona F., Milone, Annarita, Milone, Roberta, Nielsen, Jens Erik Klint, Napoli, Manuela, Novelli, Antonio, Ockeloen, Charlotte W., Pascarella, Rosario, Pippucci, Tommaso, Ricca, Ivana, Robertson, Stephen P., Sawyer, Sarah, Falkenberg Smeland, Marie, Stegmann, Sander, Stumpel, Constanze T., Carboni, Giorgia, Goel, Amy, Taylor, Juliet M., Barbuti, Domenico, Soresina, Annarosa, Bedeschi, Maria Francesca, Battini, Roberta, Cavalli, Anna, Fusco, Carlo, Iascone, Maria, Van Maldergem, Lionel, Seth, Alka, Venkateswaran, Sunita, Zuffardi, Orsetta, Vergano, Samantha, Garavelli, Livia, Bayat, Allan, Zuntini, Roberta, Coccia, Emanuele, Astrea, Guja
- Creator: Peluso, Francesca , Caraffi, Stefano G. , Bisgaard, Anne-Marie , Ivanovski, Ivan , Maitz, Silvia , Brischoux-Boucher, Elise , Carter, Melissa T. , Dentici, Maria Lisa , Devriendt, Koenraad , Bellini, Melissa , Digilio, Maria Cristina , Doja, Asif , Contrò, Gianluca , Dyment, David A. , Farholt, Stense , Ferreira, Carlos R. , Wolfe, Lynne A. , Gahl, William A. , Gnazzo, Maria , Goel, Himanshu , Gronborg, Sabine Weller , Hammer, Trine , Iughetti, Lorenzo , Valeri, Lara , Kleefstra, Tjitske , Koolen, David A. , Lepri, Francesca Romana , Lemire, Gabrielle , Louro, Pedro , McCullagh, Gary , Madeo, Simona F. , Milone, Annarita , Milone, Roberta , Nielsen, Jens Erik Klint , Napoli, Manuela , Novelli, Antonio , Ockeloen, Charlotte W. , Pascarella, Rosario , Pippucci, Tommaso , Ricca, Ivana , Robertson, Stephen P. , Sawyer, Sarah , Falkenberg Smeland, Marie , Stegmann, Sander , Stumpel, Constanze T. , Carboni, Giorgia , Goel, Amy , Taylor, Juliet M. , Barbuti, Domenico , Soresina, Annarosa , Bedeschi, Maria Francesca , Battini, Roberta , Cavalli, Anna , Fusco, Carlo , Iascone, Maria , Van Maldergem, Lionel , Seth, Alka , Venkateswaran, Sunita , Zuffardi, Orsetta , Vergano, Samantha , Garavelli, Livia , Bayat, Allan , Zuntini, Roberta , Coccia, Emanuele , Astrea, Guja
- Resource Type: journal article
- Date: 2023
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