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Results 1-10 of 13 (Search time: 0.004 seconds).
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PreviewIssue DateTitleAuthor(s)
2016CXCR5⁺ follicular cytotoxic T cells control viral infection in B cell folliclesLeong, Y.; Chen, Y.; Ong, H.; Wu, D.; Man, K.; Deleage, C.; Minnich, M.; Meckiff, B.; Wei, Y.; Hou, Z.; Zotos, D.; Fenix, K.; Atnerkar, A.; Preston, S.; Chipman, J.; Beilman, G.; Allison, C.; Sun, L.; Wang, P.; Xu, J.; et al.
2007Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephalyField, M.; Tarpey, P.; Smith, R.; Edkins, S.; O'Meara, S.; Stevens, C.; Tofts, C.; Teague, J.; Butler, A.; Dicks, E.; Barthorpe, S.; Buck, G.; Cole, J.; Gray, K.; Halliday, K.; Hills, K.; Jenkinson, A.; Jones, D.; Menzies, A.; Mironenko, T.; et al.
2007Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardationTarpey, P.; Raymond, F.; Nguyen, L.; Rodriguez, J.; Hackett, A.; Vandeleur, L.; Smith, R.; Shoubridge, C.; Edkins, S.; Stevens, C.; O'Meara, S.; Tofts, C.; Barthorpe, S.; Buck, G.; Cole, J.; Halliday, K.; Hills, K.; Jones, D.; Mironenko, T.; Perry, J.; et al.
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.
2019Alternative splicing in a presenilin 2 variant associated with Alzheimer diseaseBraggin, J.E.; Bucks, S.A.; Course, M.M.; Smith, C.L.; Sopher, B.; Osnis, L.; Shuey, K.D.; Domoto-Reilly, K.; Caso, C.; Kinoshita, C.; Scherpelz, K.P.; Cross, C.; Grabowski, T.; Nik, S.H.M.; Newman, M.; Garden, G.A.; Leverenz, J.B.; Tsuang, D.; Latimer, C.; Gonzalez-Cuyar, L.F.; et al.
2023TP53 mutation variant allele frequency of ≥10% is associated with poor prognosis in therapy-related myeloid neoplasmsShah, M.V.; Tran, E.N.H.; Shah, S.; Chhetri, R.; Baranwal, A.; Ladon, D.; Shultz, C.; Al-Kali, A.; Brown, A.L.; Chen, D.; Scott, H.S.; Greipp, P.; Thomas, D.; Alkhateeb, H.B.; Singhal, D.; Gangat, N.; Kumar, S.; Patnaik, M.M.; Hahn, C.N.; Kok, C.H.; 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.
2008Genome analysis of the platypus reveals unique signatures of evolutionWarren, W.; Hillier, L.; Graves, J.; Birney, E.; Ponting, C.; Grutzner, F.; Belov, K.; Miller, W.; Clarke, L.; Chinwall, A.; Yang, S.; Heger, A.; Locke, D.; Miethke, P.; Waters, P.; Veyrunes, F.; Fulton, L.; Fulton, B.; Graves, T.; Wallis, J.; et al.