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Items: 3

Select item 44579571.

A Missense Mutation in KCTD17 Causes Autosomal Dominant Myoclonus-Dystonia

Niccolo E. Mencacci, Ignacio Rubio-Agusti, Anselm Zdebik, Friedrich Asmus, Marthe H.R. Ludtmann, Mina Ryten, Vincent Plagnol, Ann-Kathrin Hauser, Sara Bandres-Ciga, Conceição Bettencourt, Paola Forabosco, Deborah Hughes, Marc M.P. Soutar, Kathryn Peall, Huw R. Morris, Daniah Trabzuni, Mehmet Tekman, Horia C. Stanescu, Robert Kleta, Miryam Carecchio, Giovanna Zorzi, Nardo Nardocci, Barbara Garavaglia, Ebba Lohmann, Anne Weissbach, Christine Klein, John Hardy, Alan M. Pittman, Thomas Foltynie, Andrey Y. Abramov, Thomas Gasser, Kailash P. Bhatia, Nicholas W. Wood

Am J Hum Genet. 2015 Jun 4; 96(6): 938–947. doi: 10.1016/j.ajhg.2015.04.008

PMCID:: PMC4457957

Abstract Article PDF–1.5M

Select item 42058462.

Ubiquitin-proteasome system controls ciliogenesis at the initial step of axoneme extension

Kousuke Kasahara, Yoshitaka Kawakami, Tohru Kiyono, Shigenobu Yonemura, Yoshifumi Kawamura, Saho Era, Fumio Matsuzaki, Naoki Goshima, Masaki Inagaki

Nat Commun. 2014 Oct 1; 5: 5081. Published online 2014 Oct 1. doi: 10.1038/ncomms6081

PMCID:: PMC4205846

Abstract Article PDF–2.8M

Select item 31780593.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Abstract Article PDF–1.0M

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