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Results 11-16 of 16 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
2010DNA methylation-mediated Down-regulation of DNA methyltransferase-1 (DNMT1) is coincident with, but not essential for, global hypomethylation in human placentaNovakovic, B.; Wong, N.; Sibson, M.; Ng, H.; Morley, R.; Manuelpillai, U.; Down, T.; Rakyan, V.; Beck, S.; Hiendleder, S.; Roberts, C.; Craig, J.; Saffery, R.
2010De novo mutations of SETBP1 cause Schinzel-Giedion syndromeHoischen, A.; Van Bon, B.; Gilissen, C.; Arts, P.; van Lier, B.; Steehouwer, M.; de Vries, P.; de Reuver, R.; Wieskamp, N.; Mortier, G.; Devriendt, K.; Amorim, M.; Revencu, N.; Kidd, A.; Barbosa, M.; Turner, A.; Smith, J.; Olay, C.; Henderson, A.; Hayes, I.; et al.
2011Functional characterization of the AFF (AF4/FMR2) family of RNA-binding proteins: insights into the molecular pathology of FRAXE intellectual disabilityMelko, M.; Douguet, D.; Bensaid, M.; Zongaro, S.; Verheggen, C.; Gecz, J.; Bardoni, B.
2012Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencingCalvo, S.; Compton, A.; Hershman, S.; Lim, S.; Lieber, D.; Tucker, E.; Laskowski, A.; Garone, C.; Liu, S.; Jaffe, D.; Christodoulou, J.; Fletcher, J.; Bruno, D.; Goldblatt, J.; DiMauro, S.; Thorburn, D.; Mootha, V.
2012Activation of latent human GDF9 by a single residue change (Gly³⁹¹Arg) in the mature domainSimpson, C.; Stanton, P.; Walton, K.; Chan, K.; Ritter, L.; Gilchrist, R.; Harrison, C.
2010Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation familiesHynes, K.; Tarpey, P.; Dibbens, L.; Bayly, M.; Berkovic, S.; Smith, R.; Al Raisi, Z.; Turner, S.; Brown, N.; Desai, T.; Haan, E.; Turner, G.; Christodoulou, J.; Leonard, H.; Gill, D.; Stratton, M.; Gecz, J.; Scheffer, I.