Søgeresultater - Curt Scharfe

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  1. 1
    A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I

    A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I af Curt Scharfe

    Udgivet 2000
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  2. 2
    Evolutionary Rate in the Protein Interaction Network

    Evolutionary Rate in the Protein Interaction Network af Hunter B. Fraser, Aaron E. Hirsh, Lars M. Steinmetz, Curt Scharfe, Marcus W. Feldman

    Udgivet 2002
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  3. 3
    Reducing False-Positive Results in Newborn Screening Using Machine Learning

    Reducing False-Positive Results in Newborn Screening Using Machine Learning af Gang Peng, Yishuo Tang, Tina M. Cowan, Gregory M. Enns, Hongyu Zhao, Curt Scharfe

    Udgivet 2020
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  4. 4
    Massively parallel discovery of human-specific substitutions that alter enhancer activity

    Massively parallel discovery of human-specific substitutions that alter enhancer activity af Severin Uebbing, Jake Gockley, Steven K. Reilly, Acadia A. Kocher, Evan Geller, Neeru Gandotra, Curt Scharfe, Justin Cotney, James P. Noonan

    Udgivet 2020
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  5. 5
    High-quality DNA sequence capture of 524 disease candidate genes

    High-quality DNA sequence capture of 524 disease candidate genes af Peidong Shen, Wenyi Wang, Sujatha Krishnakumar, Curtis Palm, Aung-Kyaw Chi, Gregory M. Enns, Ronald W. Davis, Terence P. Speed, Michael Mindrinos, Curt Scharfe

    Udgivet 2011
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  6. 6
    Rare variant detection using family-based sequencing analysis

    Rare variant detection using family-based sequencing analysis af Gang Peng, Yu Fan, Timothy Blake Palculict, Peidong Shen, E. Cristy Ruteshouser, Aung-Kyaw Chi, Ronald W. Davis, Vicki Huff, Curt Scharfe, Wenyi Wang

    Udgivet 2013
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  7. 7
    Mapping Gene Associations in Human Mitochondria using Clinical Disease Phenotypes

    Mapping Gene Associations in Human Mitochondria using Clinical Disease Phenotypes af Curt Scharfe, Henry Horng‐Shing Lu, Jutta K. Neuenburg, Edward A. Allen, Guan-Cheng Li, Thomas Klopstock, Tina M. Cowan, Gregory M. Enns, Ronald W. Davis

    Udgivet 2009
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  8. 8
    Combining newborn metabolic and DNA analysis for second-tier testing of methylmalonic acidemia

    Combining newborn metabolic and DNA analysis for second-tier testing of methylmalonic acidemia af Gang Peng, Peidong Shen, Neeru Gandotra, Anthony Le, Eula Fung, Laura L. Jelliffe‐Pawlowski, Ronald W. Davis, Gregory M. Enns, Hongyu Zhao, Tina M. Cowan, Curt Scharfe

    Udgivet 2018
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  9. 9
    A systems biology approach identifies the role of dysregulated PRDM6 in the development of hypertension

    A systems biology approach identifies the role of dysregulated PRDM6 in the development of hypertension af Kushan Gunawardhana, Lingjuan Hong, Trojan Rugira, Severin Uebbing, Joanna Kucharczak, Sameet Mehta, Dineth R. Karunamuni, Brenda Cabrera‐Mendoza, Neeru Gandotra, Curt Scharfe, Renato Polimanti, James P. Noonan, Arya Mani

    Udgivet 2023
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  10. 10
    Acylcarnitine Profiles Reflect Metabolic Vulnerability for Necrotizing Enterocolitis in Newborns Born Premature

    Acylcarnitine Profiles Reflect Metabolic Vulnerability for Necrotizing Enterocolitis in Newborns Born Premature af Karl G. Sylvester, Zachary J. Kastenberg, R.L. Moss, Gregory M. Enns, Tina M. Cowan, Gary M. Shaw, David K. Stevenson, Tiffany J. Sinclair, Curt Scharfe, Kelli K. Ryckman, Laura L. Jelliffe‐Pawlowski

    Udgivet 2016
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  11. 11
    The Role of Selection in the Evolution of Human Mitochondrial Genomes

    The Role of Selection in the Evolution of Human Mitochondrial Genomes af Toomas Kivisild, Peidong Shen, Dennis P. Wall, Bao Do, Raphael Sung, Karen Davis, Giuseppe Passarino, Peter A. Underhill, Curt Scharfe, Antonio Torroni, Rosaria Scozzari, David Modiano, Alfredo Coppa, Peter de Knijff, Marcus W. Feldman, L. L. Cavalli‐Sforza, Peter J. Oefner

    Udgivet 2005
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  12. 12
    Integrative Analysis of the Mitochondrial Proteome in Yeast

    Integrative Analysis of the Mitochondrial Proteome in Yeast af Holger Prokisch, Curt Scharfe, David Camp, Wenzhong Xiao, Lior David, Christophe Andréoli, Matthew Monroe, Ronald J. Moore, Marina Gritsenko, C. Kozany, Kim Hixson, Heather M. Mottaz, Hans Zischka, Marius Ueffing, Zelek S. Herman, Ronald W. Davis, Thomas Meitinger, Peter J. Oefner, Richard Smith, Lars M. Steinmetz

    Udgivet 2004
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  13. 13
    Mitochondrial Disease Sequence Data Resource (MSeqDR): A global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities

    Mitochondrial Disease Sequence Data Resource (MSeqDR): A global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for t... af Marni J. Falk, Li Shen, Michael Gonzalez, Jeremy Leipzig, Marie T. Lott, Alphons P. M. Stassen, Maria Angela Diroma, Daniel Navarro-Gomez, Philip E. Yeske, Renkui Bai, Richard G. Boles, Virginia Brilhante, David Ralph, Jeana T. DaRe, Robert Shelton, Sharon F. Terry, Zhe Zhang, William C. Copeland, Mannis van Oven, Holger Prokisch, Douglas C. Wallace, Marcella Attimonelli, Danuta Krotoski, Stephan Züchner, Xiaowu Gai, Sherri J. Bale, Jirair K. Bedoyan, Doron M. Behar, Penelope E. Bonnen, Lisa Brooks, Claudia Calabrese, Sarah E. Calvo, Patrick F. Chinnery, John Christodoulou, Deanna M. Church, Rosanna Clima, Bruce H. Cohen, Richard G.H. Cotton, I.F.M. de Coo, Olga Derbenevoa, Johan T. den Dunnen, David Dimmock, Gregory M. Enns, Giuseppe Gasparre, Amy Goldstein, Iris L. Gonzalez, Katrina Gwinn, Sihoun Hahn, Richard Haas, Hákon Hákonarson, Michio Hirano, Douglas S. Kerr, Dong Li, Maria Lvova, Finley Macrae, Donna Maglott, Elizabeth M. McCormick, Grant Mitchell, Vamsi K. Mootha, Yasushi Okazaki, Aurora Pujol, Melissa A. Parisi, Juan C. Perín, Eric A. Pierce, Vincent Procaccio, Shamima Rahman, Reddi Honey, Heidi L. Rehm, Erin Rooney Riggs, Richard J. Rodenburg, Yaffa Rubinstein, Russell P. Saneto, Mariangela Santorsola, Curt Scharfe, Claire A. Sheldon, Eric A. Shoubridge, Domenico Simone, H.J.M. Smeets, Jan Smeitink, Christine M. Stanley, Anu Suomalainen, Mark A. Tarnopolsky, Isabelle Thiffault, David R. Thorburn, Johan Van Hove, Lynne A. Wolfe, Lee-Jun Wong

    Udgivet 2014
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