Bilaketaren emaitzak - Lindsay C. Burrage

Findu emaitzak
  1. 1
    Inherited Metabolic Disorders

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

    Argitaratua 2015
    Testu osoa
    Revisão
    Gogokoenen artean sartu
    Gorde:
  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 nork Lindsay C. Burrage, Sandesh C.S. Nagamani, Philippe M. Campeau, Brendan H. Lee

    Argitaratua 2014
    Testu osoa
    Revisão
    Gogokoenen artean sartu
    Gorde:
  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 nork Lindsay C. Burrage, Mahim Jain, Laura Gandolfo, Brendan H. Lee, Sandesh C.S. Nagamani

    Argitaratua 2014
    Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:
  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 nork 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

    Argitaratua 2011
    Testu osoa Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:
  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 nork 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

    Argitaratua 2020
    Testu osoa Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:
  6. 6
    Genetic Dissection of Complex Traits with Chromosome Substitution Strains of Mice

    Genetic Dissection of Complex Traits with Chromosome Substitution Strains of Mice nork 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

    Argitaratua 2004
    Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:
  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 nork 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

    Argitaratua 2015
    Testu osoa Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:
  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 nork 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

    Argitaratua 2014
    Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:
  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 nork 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

    Argitaratua 2015
    Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:
  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 nork 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

    Argitaratua 2019
    Testu osoa
    Revisão
    Gogokoenen artean sartu
    Gorde:
  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 nork 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

    Argitaratua 2015
    Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:
  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 nork 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

    Argitaratua 2019
    Testu osoa Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:
  13. 13
    Genetic architecture of complex traits: Large phenotypic effects and pervasive epistasis

    Genetic architecture of complex traits: Large phenotypic effects and pervasive epistasis nork 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

    Argitaratua 2008
    Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:
  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 nork 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

    Argitaratua 2013
    Testu osoa Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:
  15. 15
    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 nork 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

    Argitaratua 2020
    Testu osoa Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:
  16. 16
    Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders

    Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders nork 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

    Argitaratua 2019
    Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:
  17. 17
    The Utility of Ultra-Deep RNA sequencing in Mendelian Disorder Diagnostics

    The Utility of Ultra-Deep RNA sequencing in Mendelian Disorder Diagnostics nork 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

    Argitaratua 2025
    Testu osoa
    Pré-impressão
    Gogokoenen artean sartu
    Gorde:
  18. 18
    Argininosuccinate Lyase Deficiency Causes an Endothelial-Dependent Form of Hypertension

    Argininosuccinate Lyase Deficiency Causes an Endothelial-Dependent Form of Hypertension nork 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

    Argitaratua 2018
    Testu osoa Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:
  19. 19
    AI-MARRVEL — A Knowledge-Driven AI System for Diagnosing Mendelian Disorders

    AI-MARRVEL — A Knowledge-Driven AI System for Diagnosing Mendelian Disorders nork 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

    Argitaratua 2024
    Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:
  20. 20
    A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development

    A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development nork Anu Bashamboo, Patricia A. Donohoue, Éric Vilain, Sandra Rojo, Pierre Calvel, Sumudu Nimali Seneviratne, Federica Buonocore, Hayk Barseghyan, Nathan C. Bingham, Jill A. Rosenfeld, Surya N. Mulukutla, Mahim Jain, Lindsay C. Burrage, Shweta U. Dhar, Ashok Balasubramanyam, Brendan Lee, Marie-Charlotte Dumargne, Caroline Eozénou, Jenifer P. Suntharalingham, KSH De Silva, Lin Lin, Joëlle Bignon-Topalovic, Françis Poulat, Carlos F. Lagos, Ken McElreavey, John C. Achermann

    Argitaratua 2016
    Testu osoa Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:

Bilaketa egiteko lanabesak: