Browsing by Author Donald, Jennifer

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Issue DateTitleAuthor(s)Citation
2007Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male probandBennetts, Bruce; Christodoulou, John; Slater, Katrina; Vasudevan, V; Williamson, Sarah; Bebbinton, Ami; Cloosterman, Desiree; Donald, Jennifer; Hardwick, Simon A; Leonard, Helen; Reuter, Kirsten; Smith, Robert; Williams, Simon R.; 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: Childrens Medical Research Ins; Children's Hospital Westmead: Paediatrics & Child HealthDelineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband, European Journal of Human Genetics (2005), vol.15,(12),2007,pp 1218-1229
2002Flow cytometry in the study of mitochondrial respiratory chain disordersChristodoulou, John; Williams, Andrew; Donald, Jennifer; Kirby, Denise M.; Setterfield, Karen; Thorburn, David R.; Trounce, Ian; Children's Hospital Westmead: Paediatrics & Child Health; Central Clinical School: MedicineFlow cytometry in the study of mitochondrial respiratory chain disorders, Mitochondrion, vol.1, 5,pp 437-445
2006Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease.Roscioli, Tony; Bell, Christopher G; Bloch, Donald B; Cliffe, Simon T; Donald, Jennifer; et, al; Kirk, Edwin P; Mullan, Glen; Sarris, Maria; Taylor, Peter; Wang, Joanne; Central Clinical School: MedicineMutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease., Nature Genetics, vol.38,(6),2006,pp 620-622