Результаты поиска - Burrage, Lindsay C.

Maffucci Syndrome, Calcium Homeostasis, and Endocrine Challenges in Management по Ginnard, Olivia Z B, Burrage, Lindsay C, Karaviti, Lefkothea P

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19-Year Follow-up of A Patient With Severe Glutathione Synthetase Deficiency по Atwal, Paldeep S., Medina, Casey R., Burrage, Lindsay C., Sutton, V. Reid

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Branched-chain amino acid metabolism: from rare Mendelian diseases to more common disorders по Burrage, Lindsay C., Nagamani, Sandesh C.S., Campeau, Philippe M., Lee, Brendan H.

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Catel–Manzke syndrome: Further delineation of the phenotype associated with pathogenic variants in TGDS по Pferdehirt, Rachel, Jain, Mahim, Blazo, Maria A., Lee, Brendan, Burrage, Lindsay C.

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Sodium Phenylbutyrate Decreases Plasma Branched-Chain Amino Acids in Patients with Urea Cycle Disorders по Burrage, Lindsay C., Jain, Mahim, Gandolfo, Laura, Lee, Brendan H., Nagamani, Sandesh CS.

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Pleiotropy, Homeostasis, and Functional Networks Based on Assays of Cardiovascular Traits in Genetically Randomized Populations по Nadeau, Joseph H., Burrage, Lindsay C., Restivo, Joe, Pao, Yoh-Han, Churchill, Gary, Hoit, Brian D.

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A Mosaic 2q24.2 Deletion Narrows the Critical Region to a 0.4 Mb Interval That Includes TBR1, TANK, and PSMD14 по Burrage, Lindsay C., Eble, Tanya N., Hixson, Patricia M., Roney, Erin K., Cheung, Sau W., Franco, Luis M.

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A deep intronic variant is a common cause of OTC deficiency in individuals with previously negative genetic testing по Kumar, Runjun D., Burrage, Lindsay C., Bartos, Jan, Ali, Saima, Schmitt, Eric, Nagamani, Sandesh C.S., LeMons, Cynthia

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Increased mitochondrial oxidative phosphorylation in the liver is associated with obesity and insulin resistance по Buchner, David A., Yazbek, Soha N., Solinas, Paola, Burrage, Lindsay C., Morgan, Michael G., Hoppel, Charles L., Nadeau, Joseph H.

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Biomarkers for Liver Disease in Urea Cycle Disorders по Nagamani, Sandesh C.S., Ali, Saima, Izem, Rima, Schady, Deborah, Masand, Prakash, Shneider, Benjamin L., Leung, Daniel H., Burrage, Lindsay C.

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Resistance to diet-induced obesity in mice with a single substituted chromosome по Buchner, David A., Burrage, Lindsay C., Hill, Annie E., Yazbek, Soha N., O'Brien, William E., Croniger, Colleen M., Nadeau, Joseph H.

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Milder Clinical and Biochemical Phenotypes Associated with the c.482G>A (p.Arg161Gln) Pathogenic Variant in Cobalamin C Disease: Implications for Management and Screening по Almannai, Mohammed, Marom, Ronit, Divin, Kristian, Scaglia, Fernando, Sutton, V. Reid, Craigen, William J., Lee, Brendan, Burrage, Lindsay C., Graham, Brett H.

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Maternal Folate Polymorphisms and the Etiology of Human Nondisjunction по Hassold, Terry J., Burrage, Lindsay C., Chan, Ernest R., Judis, LuAnn M., Schwartz, Stuart, James, S. Jill, Jacobs, Patricia A., Thomas, N. Simon

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Early Childhood Presentation of Czech Dysplasia по Burrage, Lindsay C., Lu, James T., Liu, David S., Moss, Timothy J., Gibbs, Richard, Schlesinger, Alan E., Bacino, Carlos A., Campeau, Philippe M., Lee, Brendan H.

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Clinical diagnosis of metabolic disorders using untargeted metabolomic profiling and disease-specific networks learned from profiling data по Thistlethwaite, Lillian R., Li, Xiqi, Burrage, Lindsay C., Riehle, Kevin, Hacia, Joseph G., Braverman, Nancy, Wangler, Michael F., Miller, Marcus J., Elsea, Sarah H., Milosavljevic, Aleksandar

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Analyzing complex traits with congenic strains по Shao, Haifeng, Sinasac, David S., Burrage, Lindsay C., Hodges, Craig A., Supelak, Pamela J., Palmert, Mark R., Moreno, Carol, Cowley, Allen W., Jacob, Howard J., Nadeau, Joseph H.

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Neonatal Fractures as a Presenting Feature of LMOD3-Associated Congenital Myopathy по Abbott, Megan, Jain, Mahim, Pferdehirt, Rachel, Chen, Yuqing, Tran, Alyssa, Duz, Mehmet Bugrahan, Seven, Mehmet, Gibbs, Richard A., Muzny, Donna, Lee, Brendan, Marom, Ronit, Burrage, Lindsay C.

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Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation по Ng, Bobby G., Rosenfeld, Jill A., Emrick, Lisa, Jain, Mahim, Burrage, Lindsay C., Lee, Brendan, Craigen, William J., Bearden, David R., Graham, Brett H., Freeze, Hudson H.

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Adult Presentation of X-Linked Conradi-Hünermann-Happle Syndrome по Posey, Jennifer E., Burrage, Lindsay C., Campeau, Philippe M., Lu, James T., Eble, Tanya N., Kratz, Lisa, Schlesinger, Alan E., Gibbs, Richard A., Lee, Brendan H., Nagamani, Sandesh CS.

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Deep congenic analysis identifies many strong, context-dependent QTLs, one of which, Slc35b4, regulates obesity and glucose homeostasis по Yazbek, Soha N., Buchner, David A., Geisinger, Jonathan M., Burrage, Lindsay C., Spiezio, Sabrina H., Zentner, Gabriel E., Hsieh, Chang-Wen, Scacheri, Peter C., Croniger, Colleen M., Nadeau, Joseph H.

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