Browsing by Author Tukiainen, Taru

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Issue DateTitleAuthor(s)Citation
2016Analysis of the ACTN3 heterozygous genotype suggests that (aplha)-actinin-3 controls sarcomeric composition and muscle function in a dose-dependent fashionGarton, Fleur; Hogarth, Marshall; Houweling, Peter; North, Kathryn; Quinlan (nee Edwards), Kate Gemma; Head, Stewart I; Lek, Monkol; MacArthur, Daniel; Seto, Jane T; Tukiainen, Taru; Yang, Nan; Western Clinical School: Medicine (Westmead); Childrens Hospital Westmead: Medicine; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthAnalysis of the ACTN3 heterozygous genotype suggests that (aplha)-actinin-3 controls sarcomeric composition and muscle function in a dose-dependent fashion, Human Molecular Genetics, vol.25, 5, 2016,pp 866-877
2016Analysis of the ACTN3 heterozygous genotype suggests that (aplha)-actinin-3 controls sarcomeric composition and muscle function in a dose-dependent fashionGarton, Fleur; Hogarth, Marshall; Houweling, Peter; North, Kathryn; Quinlan (nee Edwards), Kate Gemma; Head, Stewart I; Lek, Monkol; MacArthur, Daniel; Seto, Jane T; Tukiainen, Taru; Yang, Nan; Western Clinical School: Medicine (Westmead); Childrens Hospital Westmead: Medicine; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthAnalysis of the ACTN3 heterozygous genotype suggests that (aplha)-actinin-3 controls sarcomeric composition and muscle function in a dose-dependent fashion, Human Molecular Genetics, vol.25, 5, 2016,pp 866-877
2017Improving genetic diagnosis in Mendelian disease with transcriptome sequencingBournazos, Adam; Clarke, Nigel; Cooper, Sandra; Ghaoui, Roula; Lek, Monkol; Oates, Emily; O'Grady, Gina Louise; Sandaradura, Sarah; Waddell, Leigh Brook; Bolduc, Veronique; Cummings, Beryl; Donkervoort, Sandra; Estrella, Elicia; et al, Various; Foley, A Reghan; Marshall, J; North, Kathryn N.; Reddy, H; Tukiainen, Taru; Zhao, F; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthImproving genetic diagnosis in Mendelian disease with transcriptome sequencing, Science Translational Medicine, vol.9, 386, 2017,pp 1-11