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PreviewIssue DateTitleAuthor(s)
2016EPHA2 mutations contribute to congenital cataract through diverse mechanismsDave, A.; Martin, S.; Kumar, R.; Craig, J.; Burdon, K.; Sharma, S.
2016TBC1D24 genotype-phenotype correlationBalestrini, S.; Milh, M.; Castiglioni, C.; Lüthy, K.; Finelli, M.; Verstreken, P.; Cardon, A.; Stražišar, B.; Holder, J.; Lesca, G.; Mancardi, M.; Poulat, A.; Repetto, G.; Banka, S.; Bilo, L.; Birkeland, L.; Bosch, F.; Brockmann, K.; Cross, J.; Doummar, D.; et al.
2017Knockout of the epilepsy gene Depdc5 in mice causes severe embryonic dysmorphology with hyperactivity of mTORC1 signallingHughes, J.; Dawson, R.; Tea, M.; McAninch, D.; Piltz, S.; Jackson, D.; Stewart, L.; Ricos, M.; Dibbens, L.; Harvey, N.; Thomas, P.
2017NAD deficiency, congenital malformations, and niacin supplementationShi, H.; Enriquez, A.; Rapadas, M.; Martin, E.; Wang, R.; Moreau, J.; Lim, C.; Szot, J.; Ip, E.; Hughes, J.; Sugimoto, K.; Humphreys, D.; McInerney-Leo, A.; Leo, P.; Maghzal, G.; Halliday, J.; Smith, J.; Colley, A.; Mark, P.; Collins, F.; et al.
2014Understanding the undelaying mechanism of HASubtyping in the level of physic-chemal characteristics of proteinEbrahimi, M.; Aghagolzadeh, P.; Shamabadi, N.; Tahmasebi, A.; Alsharifi, M.; Adelson, D.; Hemmatzadeh, F.; Ebrahimie, E.; Tompkins, S.
2017Structure aided design of a Neu5Gc specific lectinDay, C.; Paton, A.; Higgins, M.; Shewell, L.; Jen, F.; Schulz, B.; Herdman, B.; Paton, J.; Jennings, M.
2013A novel prion disease associated with diarrhea and autonomic neuropathyMead, S.; Gandhi, S.; Beck, J.; Caine, D.; Gallujipali, D.; Carswell, C.; Hyare, H.; Joiner, S.; Ayling, H.; Lashley, T.; Linehan, J.M.; Al-Doujaily, H.; Sharps, B.; Revesz, T.; Sandberg, M.K.; Reilly, M.M.; Koltzenburg, M.; Forbes, A.; Rudge, P.; Brandner, S.; et al.
2013Migalastat HCl reduces globotriaosylsphingosine (Lyso-Gb3) in fabry transgenic mice and in the plasma of fabry patientsYoung-Gqamana, B.; Brignol, N.; Chang, H.; Khanna, R.; Soska, R.; Fuller, M.; Sitaraman, S.; Germain, D.; Giugliani, R.; Hughes, D.; Mehta, A.; Nicholls, K.; Boudes, P.; Lockhart, D.; Valenzano, K.; Benjamin, E.; Schiffmann, R.
2012CDP-diacylglycerol synthetase-controlled phosphoinositide availability limits VEGFA signaling and vascular morphogenesisPan, W.; Pham, V.; Stratman, A.; Castranova, D.; Kamei, M.; Kidd, K.; Lo, B.; Shaw, K.; Torres-Vazquez, J.; Mikelis, C.; Gutkind, J.; Davis, G.; Weinstein, B.
2011Regulation of progesterone receptor activity by cyclin dependent kinases 1 and 2 occurs in part by phosphorylation of the SRC-1 carboxyl-terminusMoore, N.; Weigel, N.