Browsing by Author McKenzie, Fiona

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Issue DateTitleAuthor(s)Citation
201314q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotypeChristodoulou, John; Collins, Felicity; Ellaway, Carolyn; Ho, Gladys; Peters, Gregory; Bettella, Elise; Darmanian, Artur; Fagan, Kerry; Hackett, A; Knapman, Alisa; McKenzie, Fiona; 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 Health; Children's Hospital Westmead: Paediatrics & Child Health14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype, European Journal of Human Genetics, vol.21, 5, 2013,pp 522-527
2013Farmer-driven Innovation in New South Wales, AustraliaMcKenzie, Fiona; GeosciencesFarmer-driven Innovation in New South Wales, Australia, Australian Geographer, vol.44, 1, 2013,pp 81-95
2014The IFITM5 mutation c.-14C > T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type VMunns, Craig; Sillence, David; Baynam, Gareth; Broley, Stephanie; Brown, Matthew; Cavan, Barbra; et al, Various; Lazarus, Syndia; McInerney-Leo, Aideen; McKenzie, Fiona; Pruijs, Hans E.H.; Pryce, Karena; Terhal, Paulien; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthThe IFITM5 mutation c.-14C > T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type V, BMC Musculoskeletal Disorders, vol.15, 1, 2014,pp 1-6
2011The Population Policy Debate from a Natural Resource Perspective: Reflections from the Wentworth GroupMcKenzie, Fiona; Thom, Bruce; Geosciences; GeosciencesThe Population Policy Debate from a Natural Resource Perspective: Reflections from the Wentworth Group, Geographical Research, vol.49, 3, 2011,pp 348-361
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