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Results 1651-1660 of 3081 (Search time: 0.004 seconds).
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PreviewIssue DateTitleAuthor(s)
2012KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathyWeckhuysen, S.; Mandelstam, S.; Suls, A.; Audenaert, D.; Deconinck, T.; Claes, L.; Deprez, L.; Smets, K.; Hristova, D.; Yordanova, I.; Jordanova, A.; Ceulemans, B.; Jansen, A.; Hasaerts, D.; Roelens, F.; Lagae, L.; Yendle, S.; Stanley, T.; Heron, S.; Mulley, J.; et al.
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.
2012Glucokinase links Kruppel-like factor 6 to the regulation of hepatic insulin sensitivity in nonalcoholic fatty liver diseaseBechmann, L.; Gastaldelli, A.; Vetter, D.; Patman, G.; Pascoe, L.; Hannivoort, R.; Lee, U.; Fiel, I.; Munoz, U.; Ciociaro, D.; Lee, Y.; Buzzigoli, E.; Miele, L.; Hui, K.; Bugianesi, E.; Burt, A.; Day, C.; Mari, A.; Agius, L.; Walker, M.; et al.
2013Loss-of-function mutations in SIM1 contribute to obesity and Prader-Willi-like featuresBonnefond, A.; Raimondo, A.; Stutzmann, F.; Ghoussaini, M.; Ramachandrappa, S.; Bersten, D.; Durand, E.; Vatin, V.; Balkau, B.; Lantieri, O.; Raverdy, V.; Pattou, F.; Van Hul, W.; Van Gaal, L.; Peet, D.; Weill, J.; Miller, J.; Horber, F.; Goldstone, A.; Driscoll, D.; et al.
2008A novel 154-bp deletion in the human mitochondrial DNA control region in healthy individualsBehar, D.; Blue-Smith, J.; Soria-Hernanz, D.; Tzur, S.; Hadid, Y.; Bormans, C.; Moen, A.; Tyler-Smith, C.; Quintana-Murci, L.; Wells, R.; Schurr, T.; Santos, F.; Bertranpetit, J.; Comas, D.; Balanovska, E.; Balanovsky, O.; Mitchell, R.; Jin, L.; Soodyall, H.; Pitchappan, R.; et al.; Cooper, Alan
2010Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardationLugtenberg, D.; Zangrande-Vieira, L.; Kirchhoff, M.; Whibley, A.; Oudakker, A.; Kjaergaard, S.; Vianna-Morgante, A.; Kleefstra, T.; Ruiter, M.; Jehee, F.; Ullmann, R.; Schwartz, C.; Stratton, M.; Raymond, F.; Veltman, J.; Vrijenhoek, T.; Pfundt, R.; Schuurs-Hoeijmakers, J.; Hehir-Kwa, J.; Froyen, G.; et al.
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.
2018Anti-TNF therapeutic drug monitoring in postoperative Crohn's diseaseWright, E.; Kamm, M.; De Cruz, P.; Hamilton, A.; Selvaraj, F.; Princen, F.; Gorelik, A.; Liew, D.; Prideaux, L.; Lawrance, I.; Andrews, J.; Bampton, P.; Jakobovits, S.; Florin, T.; Gibson, P.; Debinski, H.; Macrae, F.; Samuel, D.; Kronborg, I.; Radford-Smith, G.; et al.
2018Clonal evolution mechanisms in NT5C2 mutant/relapsed acute lymphoblastic leukaemiaTzoneva, G.; Dieck, C.L.; Oshima, K.; Ambesi-Impiombato, A.; Sanchez-Martin, M.; Madubata, C.J.; Khiabanian, H.; Yu, J.; Waanders, E.; Iacobucci, I.; Sulis, M.L.; Kato, M.; Koh, K.; Paganin, M.; Basso, G.; Gastier-Foster, J.M.; Loh, M.L.; Kirschner-Schwabe, R.; Mullighan, C.G.; Abadan, R.R.; et al.
2017Probing the W tb vertex structure in t-channel single-top-quark production and decay in pp collisions at √s=8 TeV with the ATLAS detectorAaboud, M.; Aad, G.; Abbott, B.; Abdallah, J.; Abdinov, O.; Abeloos, B.; AbouZeid, O.; Abraham, N.; Abramowicz, H.; Abreu, H.; Abreu, R.; Abulaiti, Y.; Acharya, B.; Adachi, S.; Adamczyk, L.; Adams, D.; Adelman, J.; Adomeit, S.; Adye, T.; Affolder, A.; et al.

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