Sökresultat - McInerney-Leo, Aideen

Massively Parallel Sequencing for Rare Genetic Disorders: Potential and Pitfalls av McInerney-Leo, Aideen M., Duncan, Emma L.

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Prevalence of Parkinson's disease in populations of African ancestry: a review. av McInerney-Leo, Aideen, Gwinn-Hardy, Katrina, Nussbaum, Robert L.

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Factors Associated with Parental Adaptation to Children with an Undiagnosed Medical Condition av Yanes, Tatiane, Humphreys, Linda, McInerney-Leo, Aideen, Biesecker, Barbara

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Causal Attributions in an Australian Aboriginal Family With Marfan Syndrome: A Qualitative Study av McInerney-Leo, Aideen M., West, Jennifer, Meiser, Bettina, West, Malcolm, Brown, Matthew A., Duncan, Emma

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Turner Syndrome: Four Challenges Across the Lifespan av Sutton, Erica J, McInerney-Leo, Aideen, Bondy, Carolyn A, Gollust, Sarah E, King, Donnice, Biesecker, Barbara

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Factors influencing cancer genetic somatic mutation test ordering by cancer physician av Demeshko, Anastassia, Pennisi, David J., Narayan, Sushil, Gray, Stacy W., Brown, Matthew A., McInerney-Leo, Aideen M.

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OR28-3 A Mutation in KCNK16 Segregating with Autosomal Dominant Non-Ketotic Diabetes Drastically Increases TALK-1 Membrane Current: A Novel Gene for MODY? av Johnson, Stephanie, Graff, Sarah, Dadi, Prasanna, Marshall, Mhairi, Leo, Paul, McInerney-Leo, Aideen, Brown, Matthew, Jacobson, David, Duncan, Emma

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Australian human research ethics committee members’ confidence in reviewing genomic research applications av Pysar, Ryan, Wallingford, Courtney K., Boyle, Jackie, Campbell, Scott B., Eckstein, Lisa, McWhirter, Rebekah, Terrill, Bronwyn, Jacobs, Chris, McInerney-Leo, Aideen M.

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Compound heterozygous mutations in FBN1 in a large family with Marfan syndrome av McInerney‐Leo, Aideen M., West, Jennifer, Wheeler, Lawrie, Leo, Paul J., Summers, Kim M., Anderson, Lisa, Brown, Matthew A., West, Malcolm, Duncan, Emma L.

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Study protocol: the Australian genetics and life insurance moratorium—monitoring the effectiveness and response (A-GLIMMER) project av Tiller, Jane, McInerney-Leo, Aideen, Belcher, Andrea, Boughtwood, Tiffany, Gleeson, Penny, Delatycki, Martin, Barlow-Stewart, Kristine, Winship, Ingrid, Otlowski, Margaret, Keogh, Louise, Lacaze, Paul

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The Future of Precision Prevention for Advanced Melanoma av Lee, Katie J., Betz-Stablein, Brigid, Stark, Mitchell S., Janda, Monika, McInerney-Leo, Aideen M., Caffery, Liam J., Gillespie, Nicole, Yanes, Tatiane, Soyer, H. Peter

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Psychological Impact of Predictive Genetic Testing in VCP Inclusion Body Myopathy, Paget Disease of Bone and Frontotemporal Dementia av Surampalli, Abhilasha, Khare, Manaswitha, Kubrussi, Georgette, Wencel, Marie, Tanaja, Jasmin, Donkervoort, Sandra, Osann, Kathryn, Simon, Mariella, Wallace, Douglas, Smith, Charles, McInerney-Leo, Aideen, Kimonis, Virginia

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Queensland Consumers’ Awareness and Understanding of Clinical Genetics Services av Wallingford, Courtney K., Cutler, Katrina, Istiko, Satrio Nindyo, Fowles, Lindsay F., Lamb, Rachel, Bean, Jessica, Healy, Louise, Hondow, Gary, Pratt, Gregory, Vidgen, Miranda E., Waddell, Nicola, Evans, Erin, Bunker, David, McInerney-Leo, Aideen M.

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Evaluation of the efficacy of 3D total-body photography with sequential digital dermoscopy in a high-risk melanoma cohort: protocol for a randomised controlled trial av Primiero, Clare Amy, McInerney-Leo, Aideen M, Betz-Stablein, Brigid, Whiteman, David C, Gordon, Louisa, Caffery, Liam, Aitken, Joanne F, Eakin, Elizabeth, Osborne, Sonya, Gray, Len, Smithers, B Mark, Janda, Monika, Soyer, H Peter, Finnane, Anna

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Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function av Cortés, Claudio R., McInerney-Leo, Aideen M., Vogel, Ida, Rondón Galeano, Maria C., Leo, Paul J., Harris, Jessica E., Anderson, Lisa K., Keith, Patricia A., Brown, Matthew A., Ramsing, Mette, Duncan, Emma L., Zankl, Andreas, Wicking, Carol

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Germline and somatic albinism variants in amelanotic/hypomelanotic melanoma: Increased carriage of TYR and OCA2 variants av Rayner, Jenna E., Duffy, David L., Smit, Darren J., Jagirdar, Kasturee, Lee, Katie J., De’Ambrosis, Brian, Smithers, B. Mark, McMeniman, Erin K., McInerney-Leo, Aideen M., Schaider, Helmut, Stark, Mitchell S., Soyer, H. Peter, Sturm, Richard A.

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A KCNK16 mutation causing TALK-1 gain of function is associated with maturity-onset diabetes of the young av Graff, Sarah M., Johnson, Stephanie R., Leo, Paul J., Dadi, Prasanna K., Dickerson, Matthew T., Nakhe, Arya Y., McInerney-Leo, Aideen M., Marshall, Mhairi, Zaborska, Karolina E., Schaub, Charles M., Brown, Matthew A., Jacobson, David A., Duncan, Emma L.

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Evaluation of a Genetics Education Program for Health Interpreters: A Pilot Study av Vidgen, Miranda E., Fowles, Lindsay F., Istiko, Satrio Nindyo, Evans, Erin, Cutler, Katrina, Sullivan, Kate, Bean, Jessica, Healy, Louise, Hondow, Gary, McInerney-Leo, Aideen M., Pratt, Gregory, Robins, Deborah, Best, Stephanie, Finlay, Keri, Ramarao-Milne, Priya, Waddell, Nicola

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Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome av McInerney-Leo, Aideen M, Marshall, Mhairi S, Gardiner, Brooke, Coucke, Paul J, Van Laer, Lut, Loeys, Bart L, Summers, Kim M, Symoens, Sofie, West, Jennifer A, West, Malcolm J, Paul Wordsworth, B, Zankl, Andreas, Leo, Paul J, Brown, Matthew A, Duncan, Emma L

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The IFITM5 mutation c.-14C > T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type V av Lazarus, Syndia, McInerney-Leo, Aideen M, McKenzie, Fiona A, Baynam, Gareth, Broley, Stephanie, Cavan, Barbra V, Munns, Craig F, Pruijs, Johannes Egbertus Hans, Sillence, David, Terhal, Paulien A, Pryce, Karena, Brown, Matthew A, Zankl, Andreas, Thomas, Gethin, Duncan, Emma L

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