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Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation

by Shimada, Shino, Ng, Bobby G, White, Amy L, Nickander, Kim K, Turgeon, Coleman, Liedtke, Kristen L, Lam, Christina T, Font-Montgomery, Esperanza, Lourenco, Charles M, He, Miao, Peck, Dawn S, Umana, Luis A, Uhles, Crescenda L, Haynes, Devon, Wheeler, Patricia G, Bamshad, Michael J, Nickerson, Deborah A, Cushing, Tom, Gates, Ryan, Gomez-Ospina, Natalia, Byers, Heather M, Scalco, Fernanda B, Martinez, Noelia N, Sachdev, Rani, Smith, Lacey, Poduri, Annapurna, Malone, Stephen, Harris, Rebekah V, Scheffer, Ingrid E, Rosenzweig, Sergio D, Adams, David R, Gahl, William A, Malicdan, May Christine V, Raymond, Kimiyo M, Freeze, Hudson H, Wolfe, Lynne A, Bamshad, Michael J, Nickerson, Deborah A, Anderson, Peter, Bacus, Tamara J, Blue, Elizabeth E, Brower, Katherine, Buckingham, Kati J, Chong, Jessica X, Davis, Colleen P, Davis, Chayna J, Frazar, Christian D, Gomeztagle-Burgess, Katherine, Gordon, William W, Horike-Pyne, Martha, Hurless, Jameson R, Jarvik, Gail P, Johanson, Eric, Thomas Kolar, J, Marvin, Colby T, McGee, Sean, McGoldrick, Daniel J, Mekonnen, Betselote, Nielsen, Patrick M, Patterson, Karynne, Radhakrishnan, Aparna, Richardson, Matthew A, Roote, Gwendolin T, Ryke, Erica L, Shively, Kathryn M, Smith, Joshua D, Tackett, Monica, Weiss, Jeffrey M, Wheeler, Marsha M, Yi, Qian, Zhang, Xiaohong
Published in Journal of medical genetics (05.07.2022)

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Dominant‐negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome

by Pujol‐Giménez, Jonai, Miller, Danny E., Allworth, Aimee, Chanprasert, Sirisak, Folta, Andrew B., Hing, Anne, Horike‐Pyne, Martha, Leppig, Kathleen A., Parhin, Azma, Rosenthal, Elisabeth A., Schwarze, Ulrike, Strohbehn, Samuel, Sybert, Virginia P., Timms, Andrew, Wener, Mark, Bamshad, Michael J., Bacus, Tamara J., Blue, Elizabeth E., Brower, Katherine, Sánchez, Diana Cornejo, Gomeztagle‐Burgess, Katherine, Hurless, Jameson R., Shively, Kathryn M., Weiss, Jeffrey M., Wheeler, Marsha M., Adam, Margaret, Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A., Barbouth, Deborah, Bejerano, Gill, Bellen, Hugo J., Bennett, Jimmy, Bivona, Stephanie, Blue, Elizabeth, Bonner, Devon, Byers, Peter, Cassini, Thomas, Chang, Ta Chen Peter, Chanprasert, Sirisak, Clark, Gary D., Cole, F. Sessions, Corona, Rosario, Crouse, Andrew B., Cunningham, Michael, Dasari, Surendra, Dayal, Jyoti G., Emrick, Lisa T., Fisher, Paul G., Gahl, William A., Hadley, Don, Hahn, Sihoun, High, Frances, Hing, Anne, Hisama, Fuki M., Horike‐Pyne, Martha, Hutchison, Sarah, Izumi, Kosuke, Kohane, Isaac S., Kohler, Jennefer N., Lalani, Seema R., Lam, Byron, Lanpher, Brendan C., Lewis, Richard A., Liu, Xue Zhong, Maduro, Valerie V., Manolio, Teri A., McCauley, Jacob, McCray, Alexa T., Mefford, Heather, Moretti, Paolo, Nickerson, Deborah, Nieves‐Rodriguez, Shirley, Orengo, James P., Pak, Stephen, Papp, Jeanette C., Parker, Neil H., Phillips, John A., Rao, Deepak A., Raskind, Wendy, Renteria, Genecee, Rosenfeld, Jill A., Saporta, Mario, Schaechter, Judy, Scott, Daryl A., Sisco, Kathy, Spillmann, Rebecca C., Sullivan, Jennifer A., Tabor, Holly K., Tifft, Cynthia J., Ungar, Rachel A., Walker, Melissa, Wambach, Jennifer, Ward, Patricia A., Wegner, Daniel, Wener, Mark, Yamamoto, Shinya, Dipple, Katrina M., Stergachis, Andrew B.
Published in Annals of clinical and translational neurology (01.06.2023)

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