Výsledky vyhledávání - Lindsay C. Burrage

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  1. 1
    Inherited Metabolic Disorders

    Inherited Metabolic Disorders Autor Suzanne Boyer, Lisa J. Barclay, Lindsay C. Burrage

    Vydáno 2015
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  2. 2
    Branched-chain amino acid metabolism: from rare Mendelian diseases to more common disorders

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

    Vydáno 2014
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  3. 3
    Sodium phenylbutyrate decreases plasma branched-chain amino acids in patients with urea cycle disorders

    Sodium phenylbutyrate decreases plasma branched-chain amino acids in patients with urea cycle disorders Autor Lindsay C. Burrage, Mahim Jain, Laura Gandolfo, Brendan H. Lee, Sandesh C.S. Nagamani

    Vydáno 2014
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  4. 4
    Deep congenic analysis identifies many strong, context-dependent QTLs, one of which, <i>Slc35b4</i>, regulates obesity and glucose homeostasis

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

    Vydáno 2011
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  5. 5
    Nitric oxide modulates bone anabolism through regulation of osteoblast glycolysis and differentiation

    Nitric oxide modulates bone anabolism through regulation of osteoblast glycolysis and differentiation Autor Zixue Jin, Jordan Kho, Brian Dawson, Ming‐Ming Jiang, Yuqing Chen, Saima Ali, Lindsay C. Burrage, Monica Grover, Donna Palmer, Dustin L. Turner, Philip Ng, Sandesh C.S. Nagamani, Brendan Lee

    Vydáno 2020
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  6. 6
    Genetic Dissection of Complex Traits with Chromosome Substitution Strains of Mice

    Genetic Dissection of Complex Traits with Chromosome Substitution Strains of Mice Autor Jonathan B. Singer, Annie E. Hill, Lindsay C. Burrage, Keith R. Olszens, Junghan Song, Monica J. Justice, William E. O’Brien, David V. Conti, John S. Witte, Eric S. Lander, Joseph H. Nadeau

    Vydáno 2004
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  7. 7
    Human recombinant arginase enzyme reduces plasma arginine in mouse models of arginase deficiency

    Human recombinant arginase enzyme reduces plasma arginine in mouse models of arginase deficiency Autor Lindsay C. Burrage, Qin Sun, Sarah H. Elsea, Ming‐Ming Jiang, Sandesh C.S. Nagamani, Arthur E. Frankel, Everett Stone, Susan E. Alters, Dale E. Johnson, Scott W. Rowlinson, George Georgiou, Brendan Lee

    Vydáno 2015
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  8. 8
    Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G&gt;A) in the mitochondrial encoded ATP6 gene

    Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G&gt;A) in the mitochondrial encoded ATP6 gene Autor Lindsay C. Burrage, Sha Tang, Jing Wang, Taraka Donti, Magdalena Walkiewicz, James M. Luchak, Li-Chieh Chen, Eric Schmitt, Zhiyv Niu, Rodrigo Eraña, Jill V. Hunter, Brett H. Graham, Lee-Jun Wong, Fernando Scaglia

    Vydáno 2014
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  9. 9
    Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism

    Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism Autor Marcus J. Miller, Adam D. Kennedy, Andrea D. Eckhart, Lindsay C. Burrage, Jacob Wulff, Luke A. D. Miller, Michael V. Milburn, John Ryals, Arthur L. Beaudet, Qin Sun, V. Reid Sutton, Sarah H. Elsea

    Vydáno 2015
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  10. 10
    Liver transplantation in propionic and methylmalonic acidemia: A single center study with literature review

    Liver transplantation in propionic and methylmalonic acidemia: A single center study with literature review Autor Nishitha R. Pillai, Bridget M. Stroup, Anna Poliner, Linda Rossetti, Brandy Rawls, Brian J. Shayota, Claudia Soler‐Alfonso, Hari Priya Tunuguntala, John A. Goss, William Craigen, Fernando Scaglia, V. Reid Sutton, Ryan Himes, Lindsay C. Burrage

    Vydáno 2019
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  11. 11
    Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States

    Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States Autor Marcus J. Miller, Lindsay C. Burrage, James B. Gibson, Meghan E. Strenk, Edward J. Lose, David Bick, Sarah H. Elsea, V. Reid Sutton, Qin Sun, Brett H. Graham, William J. Craigen, Victor Wei Zhang, Lee-Jun Wong

    Vydáno 2015
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  12. 12
    Untargeted metabolomic profiling reveals multiple pathway perturbations and new clinical biomarkers in urea cycle disorders

    Untargeted metabolomic profiling reveals multiple pathway perturbations and new clinical biomarkers in urea cycle disorders Autor Lindsay C. Burrage, Lillian R Thistlethwaite, Bridget M. Stroup, Qin Sun, Marcus J. Miller, Sandesh C.S. Nagamani, William Craigen, Fernando Scaglia, V. Reid Sutton, Brett H. Graham, Adam D. Kennedy, Aleksandar Milosavljević, Brendan Lee, Sarah H. Elsea

    Vydáno 2019
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  13. 13
    Genetic architecture of complex traits: Large phenotypic effects and pervasive epistasis

    Genetic architecture of complex traits: Large phenotypic effects and pervasive epistasis Autor Haifeng Shao, Lindsay C. Burrage, David S. Sinasac, Annie E. Hill, Sheila Ernest, William E. O’Brien, Hayden‐William Courtland, Karl J. Jepsen, Andrew Kirby, Edward J. Kulbokas, Mark J. Daly, Karl W. Broman, Eric S. Lander, Joseph H. Nadeau

    Vydáno 2008
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  14. 14
    Yunis-Varón Syndrome Is Caused by Mutations in FIG4, Encoding a Phosphoinositide Phosphatase

    Yunis-Varón Syndrome Is Caused by Mutations in FIG4, Encoding a Phosphoinositide Phosphatase Autor Philippe M. Campeau, Guy M. Lenk, James T. Lu, Yangjin Bae, Lindsay C. Burrage, Peter D. Turnpenny, Jorge Román Corona‐Rivera, Lucia Morandi, Marina Mora, Heiko Reutter, Anneke T. Vulto-van Silfhout, Laurence Faivre, Eric Haan, Richard A. Gibbs, Miriam H. Meisler, Brendan H. Lee

    Vydáno 2013
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  15. 15
    De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy

    De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy Autor Hyunglok Chung, Xiao Mao, Hua Wang, Ye-Jin Park, Paul C. Marcogliese, Jill A. Rosenfeld, Lindsay C. Burrage, Pengfei Liu, David R. Murdock, Shinya Yamamoto, Michael F. Wangler, Hsiao‐Tuan Chao, Hongyu Long, Li Feng, Carlos A. Bacino, Hugo J. Bellen, Bo Xiao

    Vydáno 2020
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  16. 16
    Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing

    Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing Autor David R. Murdock, Hongzheng Dai, Lindsay C. Burrage, Jill A. Rosenfeld, Shamika Ketkar, Michaela Müller, Vicente A. Yépez, Julien Gagneur, Pengfei Liu, Shan Chen, Mahim Jain, Gladys Zapata, Carlos A. Bacino, Hsiao‐Tuan Chao, Paolo Moretti, William J. Craigen, Neil A. Hanchard, Brendan Lee

    Vydáno 2020
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  17. 17
    Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders

    Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders Autor Roland Posset, Andrea Gropman, Sandesh C.S. Nagamani, Lindsay C. Burrage, Jirair K. Bedoyan, Derek A. Wong, Susan A. Berry, Matthias R. Baumgartner, Marc Yudkoff, Matthias Zielonka, Georg F. Hoffmann, Peter Burgard, Andreas Schulze, Shawn E. McCandless, Ángeles García‐Cazorla, Jennifer Seminara, Sven F. Garbade, Stefan Kölker

    Vydáno 2019
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  18. 18
    The Utility of Ultra-Deep RNA sequencing in Mendelian Disorder Diagnostics

    The Utility of Ultra-Deep RNA sequencing in Mendelian Disorder Diagnostics Autor Sen Zhao, Jefferson Sinson, Shenglan Li, Jill A. Rosenfeld, Gladys Zapata, Kristina Macakova, Mezthly Pena, Rebecca L. Maywald, Kim C. Worley, Lindsay C. Burrage, Monika Weisz Hubshman, Shamika Ketkar, William Craigen, Lisa Emrick, Tyson A. Clark, Lithwick Gila, Zohar Shipony, Christine M. Eng, Brendan Lee, Pengfei Liu

    Vydáno 2025
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  19. 19
    Argininosuccinate Lyase Deficiency Causes an Endothelial-Dependent Form of Hypertension

    Argininosuccinate Lyase Deficiency Causes an Endothelial-Dependent Form of Hypertension Autor Jordan Kho, Xiao Yu Tian, Wing Tak Wong, Terry Bertin, Ming‐Ming Jiang, Shan Chen, Zixue Jin, Oleg A. Shchelochkov, Lindsay C. Burrage, Anilkumar K. Reddy, Hong Jiang, Reem Abo‐Zahrah, Shuangtao Ma, Ping Zhang, Karl‐Dimiter Bissig, Ji‐Eun Kim, Sridevi Devaraj, George G. Rodney, Ayelet Erez, Nathan S. Bryan, Sandesh C.S. Nagamani, Brendan Lee

    Vydáno 2018
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  20. 20
    AI-MARRVEL — A Knowledge-Driven AI System for Diagnosing Mendelian Disorders

    AI-MARRVEL — A Knowledge-Driven AI System for Diagnosing Mendelian Disorders Autor Dongxue Mao, Chaozhong Liu, Linhua Wang, Rami AI-Ouran, Cole A. Deisseroth, Sasidhar Pasupuleti, S. Kim, Lucian Li, Jill A. Rosenfeld, Linyan Meng, Lindsay C. Burrage, Michael F. Wangler, Shinya Yamamoto, Martha Guadalupe Zárate Santana, Victor L. Perez, Priyank Shukla, Christine M. Eng, Brendan Lee, Bo Yuan, Fan Xia, Hugo J. Bellen, Pengfei Liu, Zhandong Liu

    Vydáno 2024
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