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Results 1-10 of 12 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
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.
2019Dietary zinc and the control of Streptococcus pneumoniae infectionEijkelkamp, B.A.; Morey, J.R.; Neville, S.L.; Tan, A.; Pederick, V.G.; Cole, N.; Singh, P.P.; Ong, C.-L.Y.; Gonzalez de Vega, R.; Clases, D.; Cunningham, B.A.; Hughes, C.E.; Comerford, I.; Brazel, E.B.; Whittall, J.J.; Plumptre, C.D.; McColl, S.R.; Paton, J.C.; McEwan, A.G.; Doble, P.A.; et al.; Orihuela, C.J.
2017Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domainsGeisheker, M.; Heymann, G.; Wang, T.; Coe, B.; Turner, T.; Stessman, H.; Hoekzema, K.; Kvarnung, M.; Shaw, M.; Friend, K.; Liebelt, J.; Barnett, C.; Thompson, E.; Haan, E.; Guo, H.; Anderlid, B.; Nordgren, A.; Lindstrand, A.; Vandeweyer, G.; Alberti, A.; et al.
2018Plasmacytoid dendritic cells protect from viral bronchiolitis and asthma through semaphorin 4a-mediated T reg expansionLynch, J.; Werder, R.; Loh, Z.; Sikder, M.; Curren, B.; Zhang, V.; Rogers, M.; Lane, K.; Simpson, J.; Mazzone, S.; Spann, K.; Hayball, J.; Diener, K.; Everard, M.; Blyth, C.; Forstner, C.; Dennis, P.; Murtaza, N.; Morrison, M.; Cuív, P.; et al.
2019DNA hypermethylation encroachment at CpG island borders in cancer is predisposed by H3K4 monomethylation patternsSkvortsova, K.; Masle-Farquhar, E.; Luu, P.L.; Song, J.Z.; Qu, W.; Zotenko, E.; Gould, C.M.; Du, Q.; Peters, T.J.; Colino-Sanguino, Y.; Pidsley, R.; Nair, S.S.; Khoury, A.; Smith, G.C.; Miosge, L.A.; Reed, J.H.; Kench, J.G.; Rubin, M.A.; Horvath, L.; Bogdanovic, O.; et al.
2013Rare variants in single-minded 1 (SIM1) are associated with severe obesityRamachandrappa, S.; Raimondo, A.; Cali, A.; Keogh, J.; Henning, E.; Saeed, S.; Thompson, A.; Garg, S.; Bochukova, E.; Brage, S.; Trowse, V.; Wheeler, E.; Sullivan, A.; Dattani, M.; Clayton, P.; Datta, V.; Bruning, J.; Wareham, N.; O'Rahilly, S.; Peet, D.; 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.
2013Evidence for a retroviral insertion in TRPM1 as the cause of congenital stationary night blindness and leopard complex spotting in the horseBellone, R.; Holl, H.; Sealuri, V.; Devi, S.; Maddodi, N.; Archer, S.; Sandmeyer, L.; Ludwig, A.; Foerster, D.; Pruvost, M.; Reissmann, M.; Bortfeldt, R.; Adelson, D.; Lim, S.; Nelson, J.; Haase, B.; Engensteiner, M.; Leeb, T.; Forsyth, G.; Mienaltowski, M.; et al.; Anderson, M.G.
2013Mutations in DEPDC5 cause familial focal epilepsy with variable fociDibbens, L.; de Vries, B.; Donatello, S.; Heron, S.; Hodgson, B.; Chintawar, S.; Crompton, D.; Hughes, J.; Bellows, S.; Klein, K.; Callenbach, P.; Corbett, M.; Gardner, A.; Kivity, S.; Iona, X.; Regan, B.; Weller, C.; Crimmins, D.; O'Brien, T.; Guerrero-Lopez, R.; et al.
2011Identification of SOX3 as an XX male sex reversal gene in mice and humansSutton, E.; Hughes, J.; White, S.; Sekido, R.; Tan, J.; Arboleda, V.; Rogers, N.; Knower, K.; Rowley, L.; Eyre, H.; Rizzoti, K.; McAninch, D.; Golcalves, J.; Slee, J.; Turbitt, E.; Bruno, D.; Bengtsson, H.; Harley, V.; Vilain, E.; Sinclair, A.; et al.