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Results 1-10 of 28 (Search time: 0.006 seconds).
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PreviewIssue DateTitleAuthor(s)
2005Protective immunization of mice with an active-site mutant of subtilase cytotoxin of Shiga toxin-producing Escherichia coliTalbot, U.; Paton, J.; Paton, A.
2002A mutation in the gene TNFRSF11B encoding osteoprotegerin causes an idiopathic hyperphosphatasia phenotypeCundy, T.; Hegde, M.; Naot, D.; Chong, B.; King, A.; Wallace, R.; Mulley, J.; Love, D.; Seidel, J.; Fawkner, M.; Banovic, T.; Callon, K.; Grey, A.; Reid, I.; Middleton-Hardie, C.; Cornish, J.
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.
2002Sodium-channel defects in benign familial neonatal-infantile seizuresHeron, S.; Crossland, K.; Andermann, E.; Phillips, H.; Hall, A.; Bleasel, A.; Shevell, M.; Mercho, S.; Seni, M.; Guiot, M.; Mulley, J.; Berkovic, S.; Scheffer, I.
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.
2003Analysis of CFTR mutation screening in cases of isolated fetal echogenic bowel in the South Australian populationNicholls, C.; Nelson, P.; Poplawski, N.; Chin, S.; Fong, B.; Solly, P.; Fietz, M.; Fletcher, J.
2001Analysis of lymphoedema-distichiasis families for FOXC2 mutations reveals small insertions and deletions throughout the geneBell, R.; Brice, G.; Child, A.; Murday, V.; Mansour, S.; Sandy, C.; Collin, J.; Brady, A.; Callen, D.; Burnand, K.; Mortimer, P.; Jeffery, S.