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1
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2دورية أكاديمية
المؤلفون: Steiner, Robert D., DeBarber, Andrea, Larson, Austin, Blanchard, Bobbi, Laurie, Shawn, Odedara, Neel, Rosengrant, Hollisa, Dutta, RanaAff4, IDs12325023026878_cor8
المصدر: Advances in Therapy. 41(2):467-475
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3دورية أكاديمية
المؤلفون: Wang, Laura A.Aff1, IDs10875023015972_cor1, Larson, Austin, Abbott, Jordan K.
المصدر: Journal of Clinical Immunology: International Journal of Inborn Errors of Immunity and Related Diseases. 43(8):1792-1795
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4دورية أكاديمية
المؤلفون: Van Hove, Johan L.K., Friederich, Marisa W., Hock, Daniella H., Stroud, David A., Caruana, Nikeisha J., Christians, Uwe, Schniedewind, Björn, Michel, Cole R., Reisdorph, Richard, Lopez Gonzalez, Edwin D.J., Brenner, Charles, Donovan, Tonia E., Lee, Jessica C., Chatfield, Kathryn C., Larson, Austin A., Baker, Peter R., II, McCandless, Shawn E., Moore Burk, Meghan F.
المصدر: In Mitochondrion September 2024 78
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5دورية أكاديمية
المؤلفون: Lam, Christina, Scaglia, Fernando, Berry, Gerard T., Larson, Austin, Sarafoglou, Kyriakie, Andersson, Hans C., Sklirou, Evgenia, Tan, Queenie K.G., Starosta, Rodrigo T., Sadek, Mustafa, Wolfe, Lynne, Horikoshi, Seishu, Ali, May, Barone, Rita, Campbell, Teresa, Chang, Irene J., Coles, Kiaira, Cook, Edward, Eklund, Erik A., Engelhardt, Nicole M., Freeman, Mary, Friedman, Jennifer, Fu, Debbie Y.T., Botzo, Grace, Rawls, Brandy, Hernandez, Christien, Johnsen, Christin, Keller, Kierstin, Kramer, Sara, Kuschel, Bryce, Leshinski, Angela, Martinez-Duncker, Ivan, Mazza, Gina L., Mercimek-Andrews, Saadet, Miller, Bradley S., Muthusamy, Karthik, Neira, Juanita, Patterson, Marc C., Pogorelc, Natalie, Powers, Lex N., Ramey, Elizabeth, Reinhart, Michaela, Squire, Audrey, Thies, Jenny, Vockley, Jerry, Vreugdenhil, Hayden, Witters, Peter, Youbi, Mehdi, Zeighami, Aziza, Zemet, Roni, Edmondson, Andrew C., Morava, Eva
المصدر: In Molecular Genetics and Metabolism August 2024 142(4)
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6دورية أكاديمية
المؤلفون: Zemet, Roni, Hope, Kyle D., Edmondson, Andrew C., Shah, Rameen, Patino, Maria, Yesso, Abigail M., Berger, Justin H., Sarafoglou, Kyriakie, Larson, Austin, Lam, Christina, Morava, Eva, Scaglia, Fernando
المصدر: In Molecular Genetics and Metabolism August 2024 142(4)
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7دورية أكاديمية
المؤلفون: Altassan, Ruqaiah, Allers, Michael M., De Graef, Diederik, Shah, Rameen, de Vries, Maaike, Larson, Austin, Glamuzina, Emma, Morava, Eva
المصدر: In Molecular Genetics and Metabolism November 2023 140(3)
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8دورية أكاديمية
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9دورية أكاديمية
المؤلفون: Bayat, Allan, Liu, Zhenjiang, Luo, Sheng, Fenger, Christina D., Højte, Anne F., Isidor, Bertrand, Cogne, Benjamin, Larson, Austin, Zanus, Caterina, Faletra, Flavio, Keren, Boris, Musante, Luciana, Gourfinkel-An, Isabelle, Perrine, Charles, Demily, Caroline, Lesca, Gaeton, Liao, Weiping, Ren, Dejian
المصدر: In Genetics in Medicine September 2023 25(9)
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10دورية أكاديمية
المؤلفون: Ng, Bobby G, Eklund, Erik A, Shiryaev, Sergey A, Dong, Yin Y, Abbott, Mary‐Alice, Asteggiano, Carla, Bamshad, Michael J, Barr, Eileen, Bernstein, Jonathan A, Chelakkadan, Shabeed, Christodoulou, John, Chung, Wendy K, Ciliberto, Michael A, Cousin, Janice, Gardiner, Fiona, Ghosh, Suman, Graf, William D, Grunewald, Stephanie, Hammond, Katherine, Hauser, Natalie S, Hoganson, George E, Houck, Kimberly M, Kohler, Jennefer N, Morava, Eva, Larson, Austin A, Liu, Pengfei, Madathil, Sujana, McCormack, Colleen, Meeks, Naomi JL, Miller, Rebecca, Monaghan, Kristin G, Nickerson, Deborah A, Palculict, Timothy Blake, Papazoglu, Gabriela Magali, Pletcher, Beth A, Scheffer, Ingrid E, Schenone, Andrea Beatriz, Schnur, Rhonda E, Si, Yue, Rowe, Leah J, Russi, Alvaro H Serrano, Russo, Rossana Sanchez, Thabet, Farouq, Tuite, Allysa, Villanueva, María Mercedes, Wang, Raymond Y, Webster, Richard I, Wilson, Dorcas, Zalan, Alice, Network, University of Washington Center for Mendelian Genomics Undiagnosed Diseases, Wolfe, Lynne A, Rosenfeld, Jill A, Rhodes, Lindsay, Freeze, Hudson H
المصدر: Journal of Inherited Metabolic Disease. 43(6)
مصطلحات موضوعية: Pediatric, Brain Disorders, Neurosciences, Neurodegenerative, Epilepsy, Biomarkers, Child, Preschool, Congenital Disorders of Glycosylation, Diet, Ketogenic, Female, Glycosylation, Humans, Infant, Male, Mutation, N-Acetylglucosaminyltransferases, Spasms, Infantile, Transferrin, congenital disorders of glycosylation, epilepsy, N-linked glycosylation, whole exome sequencing, Undiagnosed Diseases Network, University of Washington Center for Mendelian Genomics, Clinical Sciences, Genetics & Heredity
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/3x16x320