المؤلفون: Gudmundsson, Sanna^{Aff1, Aff2, Aff3}, Carlston, Colleen M.^{Aff1, Aff3}, O’Donnell-Luria, Anne^{Aff1, Aff2, Aff3, IDs00439023025264_cor3}

المصدر: Human Genetics. 143(4):545-549

المؤلفون: Bowen, Caitlin J., Jones, Maggie J., Stein, Deborah, Fine, Andrew M., Carlston, Colleen, Lau, Julianna

المصدر: In The Journal of Pediatrics October 2024 273

المؤلفون: Ng, Bobby G, Sosicka, Paulina, Agadi, Satish, Almannai, Mohammed, Bacino, Carlos A, Barone, Rita, Botto, Lorenzo D, Burton, Jennifer E, Carlston, Colleen, Chung, Brian Hon‐Yin, Cohen, Julie S, Coman, David, Dipple, Katrina M, Dorrani, Naghmeh, Dobyns, William B, Elias, Abdallah F, Epstein, Leon, Gahl, William A, Garozzo, Domenico, Hammer, Trine Bjørg, Haven, Jaclyn, Héron, Delphine, Herzog, Matthew, Hoganson, George E, Hunter, Jesse M, Jain, Mahim, Juusola, Jane, Lakhani, Shenela, Lee, Hane, Lee, Joy, Lewis, Katherine, Longo, Nicola, Lourenço, Charles Marques, Mak, Christopher CY, McKnight, Dianalee, Mendelsohn, Bryce A, Mignot, Cyril, Mirzaa, Ghayda, Mitchell, Wendy, Muhle, Hiltrud, Nelson, Stanley F, Olczak, Mariusz, Palmer, Christina GS, Partikian, Arthur, Patterson, Marc C, Pierson, Tyler M, Quinonez, Shane C, Regan, Brigid M, Ross, M Elizabeth, Sacoto, Maria J Guillen, Scaglia, Fernando, Scheffer, Ingrid E, Segal, Devorah, Singhal, Nilika Shah, Striano, Pasquale, Sturiale, Luisa, Symonds, Joseph D, Tang, Sha, Vilain, Eric, Willis, Mary, Wolfe, Lynne A, Yang, Hui, Yano, Shoji, Powis, Zöe, Suchy, Sharon F, Rosenfeld, Jill A, Edmondson, Andrew C, Grunewald, Stephanie, Freeze, Hudson H

المصدر: Human Mutation. 40(7)

مصطلحات موضوعية: Clinical Research, Pediatric, Genetics, Aetiology, 2.1 Biological and endogenous factors, Animals, Biopsy, CHO Cells, Cells, Cultured, Congenital Disorders of Glycosylation, Cricetulus, Female, Humans, Male, Monosaccharide Transport Proteins, Mutation, Uridine Diphosphate Galactose, congenital disorders of glycosylation, glycoside, nucleotide sugar transporter, UDP-galactose, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/48w6q46x

المؤلفون: Panici, Brendan, Nakajima, Hosei, Carlston, Colleen M., Ozadam, Hakan, Cenik, Can, Cenik, Elif Sarinay

المصدر: In Genomics July 2021 113(4):1895-1905

المؤلفون: Carlston, Colleen M.^Aff13, Ferdinandusse, Sacha^Aff14, Hobert, Judith A.^{Aff15, Aff16}, Mao, Rong^{Aff15, Aff16}, Longo, Nicola^{Aff15, Aff16, Aff17}

المساهمون: Baumgartner, Matthias, Series Editor^{Aff1, Aff8}, Patterson, Marc, Series Editor^{Aff2, Aff9}, Rahman, Shamima, Series Editor^{Aff3, Aff10}, Peters, Verena, Series Editor^{Aff4, Aff12}, Morava, Eva, Editor-in-Chief^{Aff5, Aff7}, Zschocke, Johannes, Series Editor^{Aff6, Aff11}

المصدر: JIMD Reports, Volume 43. 43:103-109

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