Browsing by Author Corbett, Mark

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Issue DateTitleAuthor(s)Citation
2005An alphaTropomyosin mutation alters dimer preference in nemaline myopathy.Cooper, Sandra; Corbett, Mark; Domazetovska, A; Gunning, Peter; Hardeman, Edna; North, Kathryn; Akkari, Anthony; Laing, Nigel G.; Western Clinical School: Medicine (Westmead); Children's Hospital Westmead: Childrens Medical Research Ins; Children's Hospital Westmead: Childrens Medical Research Ins; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Childrens Medical Research Ins; Children's Hospital Westmead: Paediatrics & Child HealthAn alphaTropomyosin mutation alters dimer preference in nemaline myopathy., Annals of Neurology, vol.57,(1),2005,pp 42-49
2012Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutationsWilson, Meredith; Christie, Louise; Corbett, Mark; Field, Michael; Friend, Kathryn; Gardner, Alison; Gecz, Jozef; Gill, Deepak S; Glubb, Georgie; Hobson, Lynne; Scheffer, Ingrid; Shaw, Marie; Willis-Owen, Saffron; Children's Hospital Westmead: Paediatrics & Child HealthExpanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations, European Journal of Human Genetics, vol.20, 7, 2012,pp 806-809
2006Skeletal muscle repair in a mouse model of nemaline myopathy.Corbett, Mark; Ghoddusi, M; Hardeman, Edna; Nguyen, Mai-Anh; Vlahovich, Nicole; Beggs, Alan H.; Han, Mei; Sanoudou, Despina; Children's Hospital Westmead: Childrens Medical Research Ins; Medicine; Children's Hospital Westmead: Childrens Medical Research Ins; Western Clinical School: Clinical Ophthal & Eye Health; Central Clinical School: MedicineSkeletal muscle repair in a mouse model of nemaline myopathy., Human Molecular Genetics, 2005, vol.15,(17),2006,pp 2603-2612