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PreviewIssue DateTitleAuthor(s)
2006Newborn screening for 3-methylcrontonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessmentStadler, S.; Polanetz, R.; Maier, E.; Heidenreich, S.; Niederer, B.; Mayerhofer, P.; Lagler, F.; Koch, H.; Santer, R.; Fletcher, J.; Ranieri, E.; Das, A.; Spiekerkotter, U.; Schwab, K.; Potzsch, S.; Marquardt, I.; Hennermann, J.; Knerr, I.; Mercimek-Mahmutoglu, S.; Kohlschmidt, N.; et al.
2006Failure of microtubule-mediated peroxisome division and trafficking in disorders with reduced peroxisome abundanceNguyen, Tam; Bjorkman, Jonas; Paton, Barbara Cleland; Crane, Denis I.
2006Helicobacter pylori regulates the expression of inhibitors of DNA binding (Id) proteins by gastric epithelial cellsManzo, Barbara Ada; Crabtree, Jean E.; Campbell, M. A. Fiona; Tweedle, David; Potten, Christopher S.; Bajaj-Elliott, Mona; Sanderson, Ian R.; Wilson, James W.
2006Dorsal mesenteric agenesis without small bowel atresia: a rare cause of midgut volvulus in childrenCascio, Salvatore; Tien, Alan Sze Loong; Agarwal, Prakash; Tan, Hock Lim
2006Congenital hypertrophy of the retinal pigment epithelium (CHRPE) in familial colorectal cancerChen, C.; Phillips, K.; Grist, S.; Bennet, G.; Craig, J.; Muecke, J.; Suthers, G.
2006Screening for lysosomal storage disorders - a clinical perspectiveFletcher, J.
2006Medical applications of leukocyte surface molecules - the CD moleculesZola, H.
2006Bone morphogenetic protein 4 contributes to the maintenance of primitive cord blood hematopoietic progenitors in an ex vivo stroma-noncontact co-culture systemHutton, J.; Rozenkov, V.; Khor, F.; D'Andrea, R.; Lewis, I.
2006Hepatocellular carcinoma in ten children under five years of age with bile salt export pump deficiencyKnisely, A.; Strautnieks, S.; Meier, Y.; Stieger, B.; Byrne, J.; Portmann, B.; Bull, L.; Pawlikowska, L.; Bilezikci, B.; Ozcay, F.; Laszlo, A.; Tiszlavicz, L.; Moore, L.; Raftos, J.; Arnell, H.; Fischler, B.; Nemeth, A.; Papadogiannakis, N.; Cielecka-Kuszyk, J.; Jankowska, I.; et al.
2006Characterization of the breast cancer associated ATM 7271T > G (V2424G) mutation by gene expression profilingWadell, N.; Jonnalagadda, J.; Marsh, A.; Grist, S.; Jenkins, M.; Hobson, K.; Taylor, M.; Lindeman, G.; Tavtigian, S.; Suthers, G.; Goldgar, D.; Oefner, P.; Taylor, D.; Grimmond, S.; Khanna, K.; Chenevix-Trench, G.