Browsing by Author Marshall, M S

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Issue DateTitleAuthor(s)Citation
2015Novel TBK1 truncating mutation in a familial amyotrophic lateral sclerosis patient of Chinese originNicholson, Garth; Blair, Ian P.; Duncan, Emma; Fifita, Jennifer A.; Leo, Paul; Marshall, M S; McCann, Emily P.; Rowe, Dominic B.; Williams, Kelly; Zhang, Katharine Y; Concord Clinical School: ANZAC Research InstituteNovel TBK1 truncating mutation in a familial amyotrophic lateral sclerosis patient of Chinese origin, Neurobiology of Aging, vol.36, 12, 2015,pp 3334.e1-3334.e5
2015Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophiesZankl, Andreas; et al, Various; Gardiner, B; Harris, J E; Kinning, E; Leo, Paul; Leong, H Y; Marshall, M S; McInerney-Leo, A M; McKenzie, Fiona; Ong, W P; Vodopiutz, Julia; Childrens Hospital Westmead: Paediatrics & Child HealthWhole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies, Clinical Genetics, vol.88, 6, 2015,pp 550-557