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PreviewIssue DateTitleAuthor(s)
2013A label-free selected reaction monitoring workflow identifies a subset of pregnancy specific glycoproteins as potential predictive markers of early-onset pre-eclampsiaBlankley, R.; Fisher, C.; Westwood, M.; North, R.; Baker, P.; Walker, M.; Williamson, A.; Whetton, A.; Lin, W.; McCowan, L.; Roberts, C.; Cooper, G.; Unwin, R.; Myers, J.
2010Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephalyGiannandrea, M.; Bianchi, V.; Mignogna, M.; Sirri, A.; Carrabino, S.; D'Elia, E.; Vecellio, M.; Russo, S.; Cogliati, F.; Larizza, L.; Ropers, H.; Tzschach, A.; Kalscheuer, V.; Oehl-Jaschkowitz, B.; Skinner, C.; Schwartz, C.; Gecz, J.; Van Esch, H.; Raynaud, M.; Chelly, J.; et al.
2010Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndromeGecz, J.
2008Oligosaccharyltransferase-Subunit Mutations in Nonsyndromic Mental RetardationMolinari, F.; Foulquier, F.; Tarpey, P.; Morelle, W.; Boissel, S.; Teague, J.; Edkins, S.; Futreal, P.; Stratton, M.; Turner, G.; Matthijs, G.; Gecz, J.; Munnich, A.; Colleaux, L.
1995The CEPH consortium linkage map of human chromosome 16Kozman, H.; Keith, T.; Donis-Keller, H.; White, R.; Weissenbach, J.; Sutherland, G.
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.
1996Further characterization of proteins associated with elastic fiber microfibrils including the molecular cloning of MAGP-2 (MP25)Gibson, M.; Hatzinikolas, G.; Kumaratilake, J.; Sandberg, L.; Nicholl, J.; Sutherland, G.; Cleary, E.
2004Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardationFreude, K.; Hoffmann, K.; Jensen, L.; Delatycki, M.; des Portes, V.; Moser, B.; Hamel, B.; van Bokhoven, H.; Moraine, C.; Fryns, J.; Chelly, J.; Gecz, J.; Lenzner, S.; Kalscheuer, V.; Ropers, H.
1998Two-dimensional mapping and microsequencing of lysosomal proteins from human placentaChataway, T.; Whittle, A.; Lewis, M.; Bindloss, C.; Davey, R.; Moritz, R.; Simpson, R.; Hopwood, J.; Meikle, P.
2004Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardationTarpey, P.; Parnau, J.; Blow, M.; Woffendin, H.; Bignell, G.; Cox, C.; Cox, J.; Davies, H.; Edkins, S.; Holden, S.; Korny, A.; Mallya, U.; Moon, J.; O'Meara, S.; Parker, A.; Stephens, P.; Stevens, C.; Teague, J.; Donnelly, A.; Mangelsdorf, M.; et al.