Browsing by Author Childrens Hospital Westmead: Genetic Medicine

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Issue DateTitleAuthor(s)Citation
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
2017A Paediatric Acute Promyelocytic Leukaemia Patient Harbouring a Cryptic PML-RARA Insertion due to a Complex Structural Chromosome 17 RearrangementHung, Dorothy; Kellie, Stewart; Wright, Dale; Ghaoui, Racha El-Hajj; Harris, Catherine; Mirochnik, O; Nagabushan, Sumanth; Sharma, Praveen; St. Heaps, Luke; Childrens Hospital Westmead: Genetic Medicine; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthA Paediatric Acute Promyelocytic Leukaemia Patient Harbouring a Cryptic PML-RARA Insertion due to a Complex Structural Chromosome 17 Rearrangement, Cytogenetic and Genome Research, vol.153, 4, 2017,pp 181-189
2017Painful ovulation in a 46,XX SRY -ve adult male with SOX9 duplicationEwans, Lisa; Handelsman, David; Shankara Narayana, N; Twigg, Stephen; Ayers, K; Kean, Anne-Maree; Ohnesorg, Thomas; Sinclair, A; Vasilaras, Arthur; Watson, Geoff; Childrens Hospital Westmead: Genetic Medicine; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research Institute; Central Clinical School: MedicinePainful ovulation in a 46,XX SRY -ve adult male with SOX9 duplication, Endocrinology, Diabetes & Metabolism Case Reports, vol.June 2017, N/A, 2017,pp 1-7