Browsing by Author Harris, J E

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Issue DateTitleAuthor(s)Citation
2015COL1A1 C-propeptide cleavage site mutation causes high bone mass, bone fragility and jaw lesions: a new cause of gnathodiaphyseal dysplasia?Zankl, Andreas; Bradbury, Linda; Brown, Matthew; Clark, Graeme; Duncan, Emma; Gardiner, Brooke; Harris, J E; Leo, Paul; McInerney-Leo, Aideen; Childrens Hospital Westmead: Paediatrics & Child HealthCOL1A1 C-propeptide cleavage site mutation causes high bone mass, bone fragility and jaw lesions: a new cause of gnathodiaphyseal dysplasia?, Clinical Genetics, vol.88, 1, 2015,pp 49-55
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