Browsing by Author Delatycki, Martin

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Issue DateTitleAuthor(s)Citation
2009Development of a multiplex ligation-dependent probe amplification assay for diagnosis and estimation of the frequency of spinocerebellar ataxia type 15Nicholson, Garth; Wei, Morgan; Zhu, Danqing; Bruno, Damien; Delatycki, Martin; Ganesamoorthy, Devika; Gardner, R. J. McKinlay; Schoumans, Jacqueline; Slater, Howard; Storey, Elsdon; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: MedicineDevelopment of a multiplex ligation-dependent probe amplification assay for diagnosis and estimation of the frequency of spinocerebellar ataxia type 15, Clinical Chemistry (Washington, DC): international journal of molecular diagnostics and laboratory medicine, vol.55, 7,pp 1415-1418
2003Effects of MECP2 mutation type, location and X-inactivation in modulating Rett Syndrome phenotypeBennetts, Bruce; Christodoulou, John; Ellaway, Carolyn; Weaving, Linda; Davis, Mark; Delatycki, Martin; Laing, Nigel G.; Leonard, Helen; Thompson, Elizabeth M.; Thong, Meow-Keong; Williamson, Sarah L; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthEffects of MECP2 mutation type, location and X-inactivation in modulating Rett Syndrome phenotype, American Journal of Medical Genetics Part A, vol.118A,(N/A),2003,pp 103-114
2004Trisomy 21 And Rett Syndrome: A Double BurdenChristodoulou, John; Weaving, Linda; Delatycki, Martin; Eastaugh, P.; Engerstrom, I. Witt; Leonard, Helen; Smith, Lucia; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthTrisomy 21 And Rett Syndrome: A Double Burden, Journal of Paediatrics and Child Health, vol.40,(7),2004,pp 406-409