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Browsing by Author Tawil, R.

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Showing results 1 to 8 of 8
Full TextIssue DateTitleAuthor(s)
2012Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2Lemmers, R.J.; Tawil, R.; Petek, L.M.; Balog, J.; Block, G.J., et al
2012Correlation analysis of clinical parameters with epigenetic modifications in the DUX4 promoter in FSHD.Balog, J.; Thijssen, P.E.; Greef, J.C. de; Shah, B.; Engelen, B.G.M. van, et al
2012Generation of Isogenic D4Z4 Contracted and Noncontracted Immortal Muscle Cell Clones from a Mosaic Patient: A Cellular Model for FSHDKrom, Y.D.; Dumonceaux, J.; Mamchaoui, K.; den Hamer, B.; Mariot, V., et al
2010Clinical features of facioscapulohumeral muscular dystrophy 2.Greef, J.C. de; Lemmers, R.J.; Camano, P.; Day, J.W.; Sacconi, S., et al
2010171st ENMC international workshop: Standards of care and management of facioscapulohumeral muscular dystrophy.Tawil, R.; Maarel, S. van der; Padberg, G.W.A.M.; Engelen, B.G.M. van
2010A unifying genetic model for facioscapulohumeral muscular dystrophy.Lemmers, R.J.; Vliet, P.J.C. Van; Klooster, R.; Sacconi, S.; Camano, P., et al
2009Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD.Greef, J.C. de; Lemmers, R.J.; Engelen, B.G.M. van; Sacconi, S.; Venance, S.L., et al
2009Contraction-dependent (FSHD1) and independent (FSHD2) epigenetic changes of D4Z4 unify FSHD.Greef, J.C. de; Lemmers, R.J.L.F.; Engelen, B.G.M. van; Sacconi, S.; Venance, S.L., et al
Showing results 1 to 8 of 8

 

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