PMC Links for Protein (Select 10835047) - PMC

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Links from Protein

Items: 3

Select item 52907321.

Faithful SGCE imprinting in iPSC-derived cortical neurons: an endogenous cellular model of myoclonus-dystonia

Karen Grütz, Philip Seibler, Anne Weissbach, Katja Lohmann, Francesca A. Carlisle, Derek J. Blake, Ana Westenberger, Christine Klein, Anne Grünewald

Sci Rep. 2017; 7: 41156. Published online 2017 Feb 3. doi: 10.1038/srep41156

PMCID:: PMC5290732

Abstract Article PDF–1.5M

Select item 3785682.

Evidence That Paternal Expression of the ε-Sarcoglycan Gene Accounts for Reduced Penetrance in Myoclonus-Dystonia

Birgitt Müller, Katja Hedrich, Norman Kock, Natasa Dragasevic, Marina Svetel, Jennifer Garrels, Olfert Landt, Matthias Nitschke, Peter P. Pramstaller, Wolf Reik, Eberhard Schwinger, Jürgen Sperner, Laurie Ozelius, Vladimir Kostic, Christine Klein

Am J Hum Genet. 2002 Dec; 71(6): 1303–1311. Published online 2002 Nov 20. doi: 10.1086/344531

PMCID:: PMC378568

Abstract Article PDF–313K

Select item 44579563.

Individualized Iterative Phenotyping for Genome-wide Analysis of Loss-of-Function Mutations

Jennifer J. Johnston, Katie L. Lewis, David Ng, Larry N. Singh, Jamila Wynter, Carmen Brewer, Brian P. Brooks, Isaac Brownell, Fabio Candotti, Steven G. Gonsalves, Suzanne P. Hart, Heidi H. Kong, Kristina I. Rother, Robert Sokolic, Benjamin D. Solomon, Wadih M. Zein, David N. Cooper, Peter D. Stenson, James C. Mullikin, Leslie G. Biesecker

Am J Hum Genet. 2015 Jun 4; 96(6): 913–925. doi: 10.1016/j.ajhg.2015.04.013