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Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort 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; Af, Jenny Thies; Vockley, Jerry; Vreugdenhil, Hayden; Witters, Peter; Youbi, Mehdi; Zeighami, Aziza; Zemet, Roni; Edmondson, Andrew C.; Morava, Eva Share Save
Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum McCormick, Elizabeth; Keller, Kierstin P.; Taylor, Julie J.; Coffey, Alison; Shen, Lishuang; Krotoski, Danuta; Harding, Brian; Gai, Xiaowu J.; Falk, Marni; Zolkipli-Cunningham, Zarazuela; Rahman, Shamima Share Save
Combination of common mtDNA variants results in mitochondrial dysfunction and a connective tissue dysregulation Schaefer, Patrick M.; Alves, Leonardo Scherer; Lvova, Maria; Huang, Jessica; Rathi, Komal; Janssen, Kevin; Butic, Arrienne; Yardeni, Tal; Morrow, Ryan; Lott, Marie; Murdock, Deborah; Song, Angela; Keller, Kierstin; Garcia, Benjamin A.; Francomano, Clair A.; Wallace, Douglas C. Share Save
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Homozygous Boricua TBCK Mutation Causes Neurodegeneration and Aberrant Autophagy Ortiz-Gonzalez, Xilma R.; Tintos-Hernandez, Jesus A.; Keller, Kierstin; Li, Xueli; Foley, A. Reghan; Bharucha-Goebel, Diana X.; Kessler, Sudha K.; Yum, Sabrina W.; Crino, Peter B.; He, Miao; Wallace, Douglas C.; Boennemann, Carsten G. Share Save
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