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Results 1-10 of 15 (Search time: 0.003 seconds).
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PreviewIssue DateTitleAuthor(s)
2019GJB2 and GJB6 mutations in hereditary recessive non-syndromic hearing impairment in CameroonTingang Wonkam, E.; Chimusa, E.; Noubiap, J.J.; Adadey, S.M.; F Fokouo, J.V.; Wonkam, A.
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.
2018ADCY9 genetic variants and cardiovascular outcomes with evacetrapib in patients with high-risk vascular disease: a nested case-control studyNissen, S.; Pillai, S.; Nicholls, S.; Wolski, K.; Riesmeyer, J.; Weerakkody, G.; Foster, W.; McErlean, E.; Li, L.; Bhatnagar, P.; Ruotolo, G.; Lincoff, A.
2017Mapping complex traits in a diversity outbred f1 mouse population identifies germline modifiers of metastasis in human prostate cancerWinter, J.; Gildea, D.; Andreas, J.; Gatti, D.; Williams, K.; Lee, M.; Hu, Y.; Zhang, S.; Mullikin, J.; Wolfsberg, T.; McDonnell, S.; Fogarty, Z.; Larson, M.; French, A.; Schaid, D.; Thibodeau, S.; Churchill, G.; Crawford, N.
2015HENMT1 and piRNA stability are required for adult male germ cell transposon repression and to define the spermatogenic program in the mouseLim, S.; Qu, Z.; Kortschak, R.; Lawrence, D.; Geoghegan, J.; Hempfling, A.; Bergmann, M.; Goodnow, C.; Ormandy, C.; Wong, L.; Mann, J.; Scott, H.; Jamsai, D.; Adelson, D.; O'Bryan, M.; Frye, M.
2015Alzheimer's disease-related peptide PS2V plays ancient, conserved roles in suppression of the unfolded protein response under hypoxia and stimulation of γ-secretase activityMoussavi Nik, S.; Newman, M.; Wilson, L.; Ebrahimie, E.; Wells, S.; Musgrave, I.; Verdile, G.; Martins, R.; Lardelli, M.
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.
2011Double-stranded RNA is pathogenic in Drosophila models of expanded repeat neurodegenerative diseasesLawlor, K.; O'Keefe, L.; Samaraweera, S.; van Eyk, C.; McLeod, C.; Maloney, C.; Dang, T.; Suter, C.; Richards, R.
2013Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disordersNguyen, L.; Kim, H.; Rosenfeld, J.; Shen, Y.; Gusella, J.; Lacassie, Y.; Layman, L.; Shaffer, L.; Gecz, J.
2011Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutationsDibbens, L.; Kneen, R.; Bayly, M.; Heron, S.; Arsov, T.; Damiano, J.; Desai, T.; Gibbs, J.; McKenzie, F.; Mulley, J.; Ronan, A.; Scheffer, I.