Browsing by Author Smith, Janine Margo

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Issue DateTitleAuthor(s)Citation
2009Denaturing High Performance Liquid Chromatography Detection of SDHB, SDHD, and VHL Germline Mutations in PheochromocytomaBenn, Diana; Marsh, Deborah; Meyer-Rochow, Goswin; Richardson, Anne Louise; Robinson, Bruce; Sidhu, Stan; Smith, Janine Margo; Northern Clinical School: Kolling Institute; Northern Clinical School: Kolling Institute; Northern Clinical School: Kolling Institute; Northern Clinical School: Kolling Institute; Northern Clinical School: Medicine; Northern Clinical School: Kolling Institute; Children's Hospital Westmead: Childrens Medical Research InsDenaturing High Performance Liquid Chromatography Detection of SDHB, SDHD, and VHL Germline Mutations in Pheochromocytoma, Journal of Surgical Research, vol.157, N/A, 2009,pp 55-62
2016Disorders of sex development: insights from targeted gene sequencing of a large international patient cohortCowell, Christopher; Ewans, Lisa; Shalhoub, Carolyn; Smith, Grahame; Smith, Janine Margo; Bouty, Aurore; Eggers, Stephanie; et al, Various; Hewitt, Jacqueline; Knarston, Ingrid; Lambeth, Luke; Ohnesorg, Thomas; Robevska, Gorjana; Sadedin, Simon; van den Bergen, Jocelyn; Childrens Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Genetic Medicine; Northern Clinical School: Medicine; Childrens Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Childrens Medical Research InsDisorders of sex development: insights from targeted gene sequencing of a large international patient cohort, Genome Biology, vol.17, 1, 2016,pp 1-21
2017NAD deficiency, congenital malformations, and niacin supplementationCollins, Felicity; Enriquez, Annabelle; Sillence, David; Smith, Janine Margo; Winlaw, David; et al, Various; Hughes, James; Ip, Eddie; Lim, Chai K; Martin, Ella; Moreau, Julie; Rapadas, M; Shi, Hongjun; Sugimoto, Kotaro; Szot, Justin O.; Wang, Roni; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Genetic Medicine; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Medical Research Ins; Childrens Hospital Westmead: Paediatrics & Child HealthNAD deficiency, congenital malformations, and niacin supplementation, New England Journal of Medicine, vol.377, 6, 2017,pp 544-552