Výsledky vyhledávání - Neal Sondheimer
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The role of Sis1 in the maintenance of the [RNQ+] prion Autor Neal Sondheimer, Nelson Lopez, Elizabeth A. Craig, Susan Lindquist
Vydáno 2001Artigo -
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Red Blood Cells Homeostatically Bind Mitochondrial DNA through TLR9 to Maintain Quiescence and to Prevent Lung Injury Autor Meghan J. Hotz, Danielle Qing, M.G.S. Shashaty, Peggy Zhang, H Faust, Neal Sondheimer, Stefano Rivella, G. Scott Worthen, Nilam S. Mangalmurti
Vydáno 2017Artigo -
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Interim analyses of a first-in-human phase 1/2 mRNA trial for propionic acidaemia Autor Dwight D. Koeberl, Andreas Schulze, Neal Sondheimer, Gerald S. Lipshutz, Tarekegn Geberhiwot, Lerong Li, Rajnish Saini, Junxiang Luo, Vanja Sikirica, Ling Jin, M. Liang, Mary Leuchars, Stephanie Grünewald
Vydáno 2024Artigo -
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Precision therapy for a new disorder of AMPA receptor recycling due to mutations in <i>ATAD1</i> Autor Rebecca C. Ahrens‐Nicklas, George K. E. Umanah, Neal Sondheimer, Matthew A. Deardorff, Alisha Wilkens, Laura K. Conlin, Avni Santani, Addie I. Nesbitt, Jane Juulsola, Erica Ma, Ted M. Dawson, Valina L. Dawson, Eric D. Marsh
Vydáno 2017Artigo -
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Modeling kinetic rate variation in third generation DNA sequencing data to detect putative modifications to DNA bases Autor Eric E. Schadt, Onureena Banerjee, Gang Fang, Zhixing Feng, Wing Hung Wong, Xuegong Zhang, Andrey Kislyuk, Tyson A. Clark, Khai Luong, Alona Keren‐Paz, Andrew Chess, Vipin Kumar, Alice Chen‐Plotkin, Neal Sondheimer, Jonas Korlach, Andrew Kasarskis
Vydáno 2012Artigo -
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Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing Autor Gregory Costain, Rebekah Jobling, Susan Walker, Miriam S. Reuter, Meaghan Snell, Sarah Bowdin, Ronald D. Cohn, Lucie Dupuis, Stacy Hewson, Saadet Mercimek‐Andrews, Cheryl Shuman, Neal Sondheimer, Rosanna Weksberg, Grace Yoon, M. Stephen Meyn, Dimitri J. Stavropoulos, Stephen W. Scherer, Roberto Mendoza‐Londono, Christian R. Marshall
Vydáno 2018Artigo -
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The live biotherapeutic SYNB1353 decreases plasma methionine via directed degradation in animal models and healthy volunteers Autor Mylène Perreault, Jillian Means, Erik Gerson, Michael J. James, Sean L. Cotton, Christopher G Bergeron, Mark D. Simon, Dylan Alexander Carlin, Nathan W. Schmidt, Theodore C. Moore, Julie Blasbalg, Neal Sondheimer, Kenneth Ndugga-Kabuye, William S. Denney, Vincent M. Isabella, David Lubkowicz, Aoife M. Brennan, David L. Hava
Vydáno 2024Artigo -
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G-quadruplex dynamics contribute to regulation of mitochondrial gene expression Autor Micol Falabella, Jill E. Kolesar, Callen T. Wallace, Daniel Simões de Jesus, Linqing Sun, Yumiko Taguchi, C. Wang, Ting Wang, Irene M. Xiang, Jonathan K. Alder, Rathena Maheshan, William Horne, Joshua Turek-Herman, Patrick J. Pagano, C.M. St. Croix, Neal Sondheimer, Liliya A. Yatsunyk, F. Brad Johnson, Brett A. Kaufman
Vydáno 2019Artigo -
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Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation Autor Elizabeth M. McCormick, Marie T. Lott, Matthew C. Dulik, Li Shen, Marcella Attimonelli, Ornella Vitale, Amel Karaa, Renkui Bai, Daniel Pineda‐Alvarez, Larry N. Singh, Christine M. Stanley, Stacey Wong, Anshu Bhardwaj, Daria Merkurjev, Rong Mao, Neal Sondheimer, Shiping Zhang, Vincent Procaccio, Douglas C. Wallace, Xiaowu Gai, Marni J. Falk
Vydáno 2020Artigo -
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Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy Autor Mirna Assoum, Christophe Philippe, Bertrand Isidor, Laurence Perrin, Periklis Makrythanasis, Neal Sondheimer, C. Paris, Jessica Douglas, Gaëtan Lesca, Stylianos E. Antonarakis, Hanan Hamamy, Thibaud Jouan, Yannis Duffourd, Stéphane Auvin, Aline Saunier, Amber Begtrup, C. Nowak, Nicolas Chatron, Dorothée Ville, Kamiar Mireskandari, Paolo Milani, Philippe Jonveaux, Guylène Lemeur, Mathieu Milh, Masano Amamoto, Mitsuhiro Kato, Mitsuko Nakashima, Noriko Miyake, Naomichi Matsumoto, Amira Masri, Christel Thauvin‐Robinet, Jean‐Baptiste Rivière, Laurence Faivre, Julien Thévenon
Vydáno 2016Artigo -
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Mutations in FBXL4, Encoding a Mitochondrial Protein, Cause Early-Onset Mitochondrial Encephalomyopathy Autor Xiaowu Gai, Daniele Ghezzi, Mark Johnson, Caroline Biagosch, Hanan E. Shamseldin, Tobias B. Haack, Aurelio Reyes, Mai Tsukikawa, Claire A. Sheldon, Satish Srinivasan, Matteo Gorza, Laura S. Kremer, Thomas Wieland, Tim M. Strom, Erzsébet Polyák, Emily Place, Mark Consugar, Julian Ostrovsky, Sara Vidoni, Alan J. Robinson, Lee-Jun Wong, Neal Sondheimer, Mustafa A. Salih, Emtethal Al-Jishi, Christopher P. Raab, Charles Bean, Francesca Furlan, Rossella Parini, Costanza Lamperti, Johannes A. Mayr, Vassiliki Konstantopoulou, Martina Huemer, Eric A. Pierce, Thomas Meitinger, Peter Freisinger, Wolfgang Sperl, Holger Prokisch, Fowzan S. Alkuraya, Marni J. Falk, Massimo Zeviani
Vydáno 2013Artigo
Vyhledávací nástroje:
Související témata
Biology
Gene
Genetics
Medicine
Mitochondrial DNA
Computational biology
Genome
Internal medicine
Pathology
Biochemistry
Cell biology
DNA sequencing
DNA
Bioinformatics
Epigenetics
Gene expression
Mitochondrion
Molecular biology
Phenotype
Whole genome sequencing
Chemistry
Cytoplasm
Disease
Endocrinology
Enzyme
Exome sequencing
Fungal prion
Genetic testing
Genomics
Heat shock protein