Browsing by Author Roscioli, T

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Showing results 1 to 5 of 5
Issue DateTitleAuthor(s)Citation
2017Germline variants in familial pituitary tumour syndrome genes are common in young patients and families with additional endocrine tumoursGill, Anthony; Wu, Kathy; Brook, Katelyn; Cowley, M; De Sousa, S; Dinger, M; Earls, Peter; Gayevskiy, Velimir; McCabe, M; McCormack, A; Rawlings, Lesley H; Roscioli, T; Scott, H; Thompson, T; Northern Clinical School: Pathology; Central Clinical School: Save Sight & Eye Health Inst.Germline variants in familial pituitary tumour syndrome genes are common in young patients and families with additional endocrine tumours, European Journal of Endocrinology, vol.176, 5, 2017,pp 635-644
2015A novel intronic splice site deletion of the IL-2 receptor common gamma chain results in expression of a dysfunctional protein and T-cell-positive X-linked Severe combined immunodeficiencyAlexander, Ian; Gray, Paul; Logan, Grant; Poulton, S; Roscioli, T; Ziegler, John; Childrens Hospital Westmead: Paediatrics & Child HealthA novel intronic splice site deletion of the IL-2 receptor common gamma chain results in expression of a dysfunctional protein and T-cell-positive X-linked Severe combined immunodeficiency, International Journal of Immunogenetics, vol.42, 1, 2015,pp 11-14
2017Prioritising the application of genomic medicineSchofield, Deborah; Doble, Brett; Mattick, John; Roscioli, T; PharmacyPrioritising the application of genomic medicine, npj Genomic Medicine, vol.2, N/A, 2017,pp 1-6
2017Psychosocial and behavioral impact of breast cancer risk assessed by testing for common risk variants: Protocol of a prospective studyBarlow-Stewart, Kristine; Halliday, Jane; James, Paul; Kaur, Rajneesh; Meiser, Bettina; Mitchell, Gillian; Roscioli, T; Yanes, Tatiane; Young, Mary-Anne; Northern Clinical School: MedicinePsychosocial and behavioral impact of breast cancer risk assessed by testing for common risk variants: Protocol of a prospective study, BMC Cancer, vol.17, 1, 2017,pp 1-11
2017A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disordersBalasubramaniam, Shanti; Christodoulou, John; Riley, Lisa; Sue, Carolyn; Bahlo, Melanie; Cowley, Mark; Gayevskiy, Velimir; Prelog, Kristina; Roscioli, T; Thorburn, David; Childrens Hospital Westmead: Medicine; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Northern Clinical School: MedicineA SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders, Journal of Inherited Metabolic Disease, vol.40, 2, 2017,pp 261-269