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PreviewIssue DateTitleAuthor(s)
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.
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.
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.
2011Sensitive detection of BCR-ABL1 mutations in patients with chronic myeloid leukemia after Imatinib resistance is predictive of outcome during subsequent therapyParker, W.; Lawrence, R.; Ho, M.; Irwin, D.; Scott, H.; Hughes, T.; Branford, S.
2011A variable region within the genome of Streptococcus pneumoniae contributes to strain-strain variation in virulenceHarvey, R.; Stroeher, U.; Ogunniyi, A.; Smith-Vaughan, H.; Leach, A.; Paton, J.; Neyrolles, O.
2011Investigating the potential role of genetic and epigenetic variation of DNA methyltransferase genes in hyperplastic polyposis syndromeDrini, M.; Wong, N.; Scott, H.; Craig, J.; Dobrovic, A.; Hewitt, C.; Dow, C.; Young, J.; Jenkins, M.; Saffery, R.; Macrae, F.; Oshima, R.
2011Extracellular matrix formation enhances the ability of streptococcus pneumoniae to cause invasive diseaseTrappetti, C.; Ogunniyi, A.; Oggioni, M.; Paton, J.; Miyaji, E.N.

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