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Results 1-10 of 13 (Search time: 0.003 seconds).
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PreviewIssue DateTitleAuthor(s)
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.
2017Self-reverting mutations partially correct the blood phenotype in a Diamond Blackfan Anemia patientVenugopal, P.; Moore, S.; Lawrence, D.; George, A.; Hannan, R.; Bray, S.; To, L.; D Andrea, R.; Feng, J.; Tirimacco, A.; Yeoman, A.; Young, C.; Fine, M.; Schreiber, A.; Hahn, C.; Barnett, C.; Saxon, B.; Scott, H.
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.
2017A method for next-generation sequencing of paired diagnostic and remission Samples to detect mitochondrial DNA mutations associated with leukemiaPagani, I.S.; Kok, C.H.; Saunders, V.A.; Van der Hoek, M.B.; Heatley, S.L.; Schwarer, A.P.; Hahn, C.N.; Hughes, T.P.; White, D.L.; Ross, D.M.
2017Regulation of Orai1/STIM1 mediated ICRAC by intracellular pHGavriliouk, D.; Scrimgeour, N.; Grigoryev, S.; Ma, L.; Zhou, F.; Barritt, G.; Rychkov, G.
2017Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biasesStessman, H.; Xiong, B.; Coe, B.; Wang, T.; Hoekzema, K.; Fenckova, M.; Kvarnung, M.; Gerdts, J.; Trinh, S.; Cosemans, N.; Vives, L.; Lin, J.; Turner, T.; Santen, G.; Ruivenkamp, C.; Kriek, M.; Van Haeringen, A.; Aten, E.; Friend, K.; Liebelt, J.; et al.
2017Chaperone-driven degradation of a misfolded proinsulin mutant in parallel with restoration of wild-type insulin secretionCunningham, C.; He, K.; Arunagiri, A.; Paton, A.; Paton, J.; Arvan, P.; Tsai, B.
2017Adults with Philadelphia chromosome-like acute lymphoblastic leukemia frequently have IGH-CRLF2 and JAK2 mutations, persistence of minimal residual disease and poor prognosisHerold, T.; Schneider, S.; Metzeler, K.; Neumann, M.; Hartmann, L.; Roberts, K.; Konstandin, N.; Greif, P.; Braeundl, K.; Ksienzyk, B.; Huk, N.; Schneider, I.; Zellmeier, E.; Jurinovic, V.; Mansmann, U.; Hiddemann, W.; Mullighan, C.; Bohlander, S.; Spiekermann, K.; Hoelzer, D.; et al.
2017Worldwide increase of obesity is related to the reduced opportunity for natural selectionBudnik, A.; Henneberg, M.; Rosenfeld, C.

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