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Results 1-10 of 15 (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.
2013A transcription factor contributes to pathogenesis and virulence in streptococcus pneumoniaeMahdi, L.; Ebrahimie, E.; Adelson, D.; Paton, J.; Ogunniyi, A.; Skurnik, M.
2011A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxiaCorbett, M.; Schwake, M.; Bahlo, M.; Dibbens, L.; Lin, M.; Gandolfo, L.; Vears, D.; O'Sullivan, J.; Robertson, T.; Bayly, M.; Gardner, A.; Vlaar, A.; Korenke, G.; Bloem, B.; de Coo, I.; Verhagen, J.; Lehesjoki, A.; Gecz, J.; Berkovic, S.
2010A focal Eeilepsy and intellectual disability syndrome is due to a mutation in TBC1D24Bahlo, M.; Jolly, L.; Afawi, Z.; Gardner, A.; Oliver, K.; Tan, S.; Coffey, A.; Mulley, J.; Dibbens, L.; Simri, W.; Shalata, A.; Kivity, S.; Jackson, G.; Berkovic, S.; Gecz, J.; Corbett, M.
2012BRCA1/2 mutations, fertility and the grandmother effectDa Silva, J.
2011Tmprss3, a transmembrane serine protease deficient in human DFNB8/10 deafness, is critical for cochlear hair cell survival at the onset of hearingFasquelle, L.; Scott, H.; Lenoir, M.; Wang, J.; Rebillard, G.; Gaboyard, S.; Venteo, S.; Francois, F.; Masset-Bonnefont, A.; Antonarakis, S.; Neidhart, E.; Chabbert, C.; Puel, J.; Guipponi, M.; Delprat, B.
2013A heterozygous moth genome provides insights into herbivory and detoxificationYou, M.; Baxter, S.
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.
2011For all my family's sake, I should go and find out: An Australian report on genetic counseling and testing uptake in individuals at high risk of breast and/or ovarian cancerWakefield, C.; Ratnayake, P.; Meiser, B.; Suthers, G.; Price, M.; Duffy, J.; Tucker, K.
2012Dabrafenib in patients with melanoma, untreated brain metastases, and other solid tumours: a phase 1 dose-escalation trialFalchook, G.; Long, G.; Kurzrock, R.; Kim, K.; Arkenau, T.; Brown, M.; Hamid, O.; Infante, J.; Millward, M.; Pavlick, A.; O'Day, S.; Blackman, S.; Curtis, C.; Lebowitz, P.; Ma, B.; Ouellet, D.; Kefford, R.