Výsledky vyhledávání - MacArthur, Daniel
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Sifting disease-causing signal from genomic noise Autor MacArthur, Daniel G
Vydáno 2012Text -
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Challenges in clinical genomics Autor MacArthur, Daniel G
Vydáno 2012Text -
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Gene inactivation and its implications for annotation in the era of personal genomics Autor Balasubramanian, Suganthi, Habegger, Lukas, Frankish, Adam, MacArthur, Daniel G., Harte, Rachel, Tyler-Smith, Chris, Harrow, Jennifer, Gerstein, Mark
Vydáno 2011Text -
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Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease Autor Menezes, Manoj P., Waddell, Leigh, Lenk, Guy M., Kaur, Simranpreet, MacArthur, Daniel G., Meisler, Miriam H., Clarke, Nigel F.
Vydáno 2014Text -
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UDP-N-Acetylglucosamine 2-Epimerase/N-Acetylmannosamine Kinase (GNE) Binds to Alpha-Actinin 1: Novel Pathways in Skeletal Muscle? Autor Amsili, Shira, Zer, Hagit, Hinderlich, Stephan, Krause, Sabine, Becker-Cohen, Michal, MacArthur, Daniel G., North, Kathryn N., Mitrani-Rosenbaum, Stella
Vydáno 2008Text -
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Quantifying unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects Autor Zou, James, Valiant, Gregory, Valiant, Paul, Karczewski, Konrad, Chan, Siu On, Samocha, Kaitlin, Lek, Monkol, Sunyaev, Shamil, Daly, Mark, MacArthur, Daniel G.
Vydáno 2016Text