Browsing by Author Kirk, Edwin

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Issue DateTitleAuthor(s)Citation
2012Congenital heart disease: current knowledge about causes and inheritanceSholler, Gary; Winlaw, David; Blue, Gillian; Harvey, Richard P; Kirk, Edwin; Children's Hospital Westmead: Medicine; Children's Hospital Westmead: Paediatrics & Child HealthCongenital heart disease: current knowledge about causes and inheritance, Medical Journal of Australia, vol.197, 3, 2012,pp 155-159
2015Genetic counselling in parents of children with congenital heart disease significantly improves knowledge about causation and enhances psychosocial functioningBlue, Gillian; Sholler, Gary; Winlaw, David; Kasparian, Nadine A; Kirk, Edwin; Childrens Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Medicine; Childrens Hospital Westmead: Paediatrics & Child HealthGenetic counselling in parents of children with congenital heart disease significantly improves knowledge about causation and enhances psychosocial functioning, International Journal of Cardiology, vol.178, N/A, 2015,pp 124-130
2013Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patientsCollins, Felicity; Wilson, Meredith; Colley, Alison; Cox, Timothy; Elakis, George; et al, Various; Gabbett, Michael; Haan, Eric; Hackett, Emma; Kirk, Edwin; Le, Trang; Moon, David; Mowat, David; Roscioli, Tony; Sachdev, Rani; Thompson, Elizabeth; Turner, Anne Marie; Venselaar, Hanka; Worgan, L; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthGenotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients, American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, vol.163, 4, 2013,pp 259-270
2013Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexesChristodoulou, John; Boneh, A.; Bruno, Damien; DeGennaro, Christine; et al, Various; Friemel, Martin; Kirk, Edwin; Lim, Sze Chern; Marum, Justine; Riley, Lisa G.; Springer, Michael; Tucker, Elena; Children's Hospital Westmead: Paediatrics & Child HealthMutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes, Human Molecular Genetics, vol.22, 22, 2013,pp 4460-4473
2014Parents' perceptions of genetics services for congenital heart disease: the role of demographic, clinical, and psychological factors in determining service attendanceKasparian, Nadine; Sholler, Gary; Winlaw, David; Camphausen, Christoph; Cooper, Stephen G; Fidock, Blake; Jones, Owen; Kaul, Ritik; Kirk, Edwin; Murphy, David N; Northern Clinical School: Paediatrics & Child Health; Children's Hospital Westmead: Medicine; Childrens Hospital Westmead: Paediatrics & Child HealthParents' perceptions of genetics services for congenital heart disease: the role of demographic, clinical, and psychological factors in determining service attendance, Genetics in Medicine, vol.16, 6, 2014,pp 460-468
2012Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgiaAlexander, Ian; Bekri, Soumeya; et al, Various; Gouda, Amr; Hubert, Laurence; Kirk, Edwin; Mamoune, Asmaa; Mathew, Suja; Michot, Caroline; Rahman, Shamima; Romero, Norma; Viollet, Louis; Children's Hospital Westmead: Paediatrics & Child HealthStudy of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia, Journal of Inherited Metabolic Disease (JIMD), vol.35, 6, 2012,pp 1119-1128
2014Targeted next-generation sequencing identifies pathogenic variants in familial congenital heart diseaseBlue, Gillian; Sholler, Gary; Winlaw, David; Dunwoodie, Sally; Giannoulatou, Eleni; Harvey, Richard P; Hilton, Desiree C.K; Ho, Joshua W.K.; Kirk, Edwin; White, Susan M.; Childrens Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Medicine; Childrens Hospital Westmead: Paediatrics & Child HealthTargeted next-generation sequencing identifies pathogenic variants in familial congenital heart disease, Journal of the American College of Cardiology, vol.64, 23, 2014,pp 2498-2506