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Results 201-210 of 211 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
2017An emerging female phenotype with loss-of-function mutations in the Aristaless-related homeodomain transcription factor ARXMattiske, T.; Moey, C.; Vissers, L.; Thorne, N.; Georgeson, P.; Bakshi, M.; Shoubridge, C.
2014Fitness valleys constrain HIV-1's adaptation to its secondary chemokine coreceptorDa Silva, J.; Wyatt, S.
2017Single-nucleotide variant proportion in genes: a new concept to explore major depression based on DNA sequencing dataYu, C.; Baune, B.; Licinio, J.; Wong, M.
2017Inference of the distribution of selection coefficients for new nonsynonymous mutations using large samplesKim, B.Y.; Huber, C.D.; Lohmueller, K.E.
2017Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsyEwans, L.J.; Field, M.; Zhu, Y.; Turner, G.; Leffler, M.; Dinger, M.E.; Cowley, M.J.; Buckley, M.F.; Scheffer, I.E.; Jackson, M.R.; Roscioli, T.; Shoubridge, C.
2017Mutations in the Katnb1 gene cause left-right asymmetry and heart defectsFurtado, M.B.; Merriner, D.J.; Berger, S.; Rhodes, D.; Jamsai, D.; O'Bryan, M.K.
2017bĂ­ogo: a simple high-performance bioinformatics toolkit for the Go languageKortschak, R.D.; Snyder, J.B.; Maragkakis, M.; Adelson, D.L.
2014From cheek swabs to consensus sequences: an A to Z protocol for high-throughput DNA sequencing of complete human mitochondrial genomesClarke, A.; Prost, S.; Stanton, J.; White, W.; Kaplan, M.; Matisoo-Smith, E.; Genographic Consortium,
2017Lost in translation: returning germline genetic results in genome-scale cancer researchJohns, A.; McKay, S.; Humphris, J.; Pinese, M.; Chantrill, L.; Mead, R.; Tucker, K.; Andrews, L.; Goodwin, A.; Leonard, C.; High, H.; Nones, K.; Waddell, N.; Patch, A.; Merrett, N.; Pavlakis, N.; Kassahn, K.; Samra, J.; Miller, D.; Chang, D.; et al.
2014Returning individual research results for genome sequences of pancreatic cancerJohns, A.; Miller, D.; Simpson, S.; Gill, A.; Kassahn, K.; Humphris, J.; Samra, J.; Tucker, K.; Andrews, L.; Chang, D.; Waddell, N.; Pajic, M.; Pearson, J.; Grimmond, S.; Biankin, A.; Zeps, N.; Martyn-Smith, M.; Tang, H.; Papangelis, V.; Beilin, M.