Zobrazeno 1 - 10
of 27
pro vyhledávání: '"Overkov, A."'
Autor:
Ades, Lesley, Enriquez, Annabel, McLean, Alison, Smyth, Renee, Alankarage, Dimithu, Fatkin, Diane, McNamara, James, Soka, Magdalena, Morgan almog, Fear, Vanessa, Medi, Caroline, Stark, Zornitza, Al-Shinnag, Mohammad, Fine, Miriam, Metke, Alejandro, Sy, Raymond, Atherton, John J., Finlay, Keri, Milnes, Di, Tang, Dotti, Austin, Rachel, Garza, Denisse, Milward, Michael, Taylor, Jessica, Bagnall, Richard D., Giannoulatou, Eleni, Morrish, Ansley, Taylor, Shelby, Barnett, Chris, Gongolidis, Laura, Morwood, Jim, Tchan, Michel, Blue, Gillian M., Gray, Belinda, Mountain, Helen, Thompson, Tina, Bodek, Simon, Greer, Cassie, Mowat, David, Thorpe, Jordan, Boggs, Kirsten, Haan, Eric, Ng, Chai-Ann, Trainer, Alison, Bogwitz, Michael, Haas, Mathilda, Nowak, Natalie, Trivedi, Gunjan, Boughtwood, Tiffany, Hanna, Bernadette, Martinez, Noelia Nunez, Valente, Giulia, Bray, Alessandra, Harvey, Richard, Ohanian, Monique, van Spaendonck-Zwarts, Karin, Brion, Marie-Jo, Hayward, Janette, O’Sullivan, Sinead, Vandenberg, Jamie, Brown, Jaye, Herrera, Carmen, Overkov, Angela, Verma, Kunal, Richardson, Rob Bryson, Hill, Adam, Pachter, Nicholas, Vidgen, Miranda, Burnett, Leslie, Hollingsworth, Georgie, Patel, Chirag, Vohra, Jitendra, Burns, Charlotte, Hollway, Georgina, Perrin, Mark, Waddel-Smith, Kathryn, Cao, Michelle, Horton, Ari E., Perry, Matthew, Wallis, Mathew, Carr, Will, Howting, Denise, Pflaumer, Andreas, Weintraub, Robert G., Casauria, Sarah, Ingles, Jodie, Phillips, Peta, Wilson, Meredith, Chalinor, Heather, Isbister, Joanne, Phuong, Thuan, Winlaw, David, Chang, Yuchen, Jackson, Matilda, Pope-Couston, Rachel, Worgan, Lisa, Chapman, Gavin, James, Paul, Poplawski, Nicola K., Wornham, Linda, Charitou, Theosodia, Jane-Pantaleo, Sarah, Punni, Preeti, Wu, Kathy, Chong, Belinda, Johnson, Renee, Quinn, Michael C.J., Yeates, Laura, Collins, Felicity, Kelly, Andrew, Quinn, Michael, Zentner, Dominica, Correnti, Gemma, King-Smith, Sarah, Rajagopalan, Sulekha, Cox, Kathy, Kirk, Edwin, Raju, Hariharan, Cunningham, Fiona, Kummerfeld, Sarah, Rath, Emma M., Das, Debjani, Lassman, Timo, Regan, Matthew, Davis, Jason, Lipton, Jonathon, Rogers, Jonathan, Davis, Andrew, Lunke, Sebastian, Ryan, Mark, De Fazio, Paul, Macciocca, Ivan, Sandaradura, Sarah, de Silva, Michelle, MacIntyre, Paul, Schonrock, Nicole, Den Elzen, Nicola, Madelli, Evanthia O., Scuffham, Paul, Devery, Sophie, Mallawaarachchi, Amali, Semsarian, Chris, Dobbins, Julia, Mansour, Julia, Sherburn, Isabella, Dunwoodie, Sally L., Martin, Ellenore, Sherlock, Mary-Clare, Dwyer, Nathan, Mathew, Jacob, Singer, Emma, Elbracht-Leong, Stefanie, Mattiske, Tessa, Smerdon, Carla, Elliott, David, McGaughran, Julie, Smith, Janine, Brown, Jaye S., Haas, Matilda, Pantaleo, Sarah-Jane
Publikováno v:
In Genetics in Medicine Open 2024 2
Autor:
Rachel Austin, Jaye S. Brown, Sarah Casauria, Evanthia O. Madelli, Tessa Mattiske, Tiffany Boughtwood, Alejandro Metke, Andrew Davis, Ari E. Horton, David Winlaw, Debjani Das, Magdalena Soka, Eleni Giannoulatou, Emma M. Rath, Eric Haan, Gillian M. Blue, Jitendra Vohra, John J. Atherton, Karin van Spaendonck-Zwarts, Kathy Cox, Leslie Burnett, Mathew Wallis, Matilda Haas, Michael C.J. Quinn, Nicholas Pachter, Nicola K. Poplawski, Zornitza Stark, Richard D. Bagnall, Robert G. Weintraub, Sarah-Jane Pantaleo, Sebastian Lunke, Paul De Fazio, Tina Thompson, Paul James, Yuchen Chang, Diane Fatkin, Ivan Macciocca, Jodie Ingles, Sally L. Dunwoodie, Chris Semsarian, Julie McGaughran, Lesley Ades, Annabel Enriquez, Alison McLean, Renee Smyth, Dimithu Alankarage, James McNamara, Morgan almog, Vanessa Fear, Caroline Medi, Mohammad Al-Shinnag, Miriam Fine, Raymond Sy, Keri Finlay, Di Milnes, Dotti Tang, Denisse Garza, Michael Milward, Jessica Taylor, Ansley Morrish, Shelby Taylor, Chris Barnett, Laura Gongolidis, Jim Morwood, Michel Tchan, Belinda Gray, Helen Mountain, Simon Bodek, Cassie Greer, David Mowat, Jordan Thorpe, Kirsten Boggs, Chai-Ann Ng, Alison Trainer, Michael Bogwitz, Mathilda Haas, Natalie Nowak, Gunjan Trivedi, Bernadette Hanna, Noelia Nunez Martinez, Giulia Valente, Alessandra Bray, Richard Harvey, Monique Ohanian, Marie-Jo Brion, Janette Hayward, Sinead O’Sullivan, Jamie Vandenberg, Jaye Brown, Carmen Herrera, Angela Overkov, Kunal Verma, Rob Bryson Richardson, Adam Hill, Miranda Vidgen, Georgie Hollingsworth, Chirag Patel, Charlotte Burns, Georgina Hollway, Mark Perrin, Kathryn Waddel-Smith, Michelle Cao, Matthew Perry, Will Carr, Denise Howting, Andreas Pflaumer, Peta Phillips, Meredith Wilson, Heather Chalinor, Joanne Isbister, Thuan Phuong, Matilda Jackson, Rachel Pope-Couston, Lisa Worgan, Gavin Chapman, Linda Wornham, Theosodia Charitou, Sarah Jane-Pantaleo, Preeti Punni, Kathy Wu, Belinda Chong, Renee Johnson, Laura Yeates, Felicity Collins, Andrew Kelly, Michael Quinn, Dominica Zentner, Gemma Correnti, Sarah King-Smith, Sulekha Rajagopalan, Edwin Kirk, Hariharan Raju, Fiona Cunningham, Sarah Kummerfeld, Timo Lassman, Matthew Regan, Jason Davis, Jonathon Lipton, Jonathan Rogers, Mark Ryan, Sarah Sandaradura, Michelle de Silva, Paul MacIntyre, Nicole Schonrock, Nicola Den Elzen, Paul Scuffham, Sophie Devery, Amali Mallawaarachchi, Julia Dobbins, Julia Mansour, Isabella Sherburn, Ellenore Martin, Mary-Clare Sherlock, Nathan Dwyer, Jacob Mathew, Emma Singer, Stefanie Elbracht-Leong, Carla Smerdon, David Elliott, Janine Smith
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101842- (2024)
Purpose: The Australian Genomics Cardiovascular Disorders Flagship was a national multidisciplinary collaboration. It aimed to investigate the feasibility of genome sequencing (GS) and functional genomics to resolve variants of uncertain significance
Externí odkaz:
https://doaj.org/article/c9654afa9dea4d2db6eb639d8979bf14
Autor:
Jodie Ingles, Kathy H C Wu, Desiree Hilton, Michelle G. de Silva, Linda J. Wornham, Sophie Devery, Matilda R. Jackson, Michael C.J. Quinn, Clifford Afoakwah, Stefanie Elbracht-Leong, Alejandro Metke-Jimenez, Christopher Semsarian, Julie McGaughran, Angela Overkov, Gemma Correnti, Jaye S. Brown, Hugo Leroux, Ellenore M. Martin, John Atherton, Rachel Austin, Ivan Macciocca, Paul Anthony Scuffham, T. Thompson
Background: This sub-study of the Australian Genomics Cardiovascular Genetic Disorders Flagship sought to conduct the first nation-wide audit in Australia to establish the current practices across cardiac genetics clinics. Method: An audit of records
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7b9def0bf9b0f6a440bf2919f660ec2
https://hdl.handle.net/11541.2/147358
https://hdl.handle.net/11541.2/147358
Akademický článek
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Autor:
Gareth P. Jevon, Jan E. Dickinson, Gareth Baynam, Angela Overkov, Cathy Kiraly-Borri, Jack Goldblatt
Publikováno v:
American Journal of Medical Genetics Part A. :966-969
We report on a recurrence of a lethal skeletal dysplasia with features similar to Desbuquois dysplasia (DD) to expand the phenotypic spectrum of DD-like conditions, to increase awareness of DD-like phenotypes in the differential diagnosis of prenatal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40239e0351d4b44d65fa6c6b1a6f2193
https://doi.org/10.1002/ajmg.a.33264
https://doi.org/10.1002/ajmg.a.33264
Autor:
Tischkowitz, M., Bahubeshi, A., Hamel, N., Pasini, B., Sofia Asioli, Baynam, G., Overkov, A., Frieder, Rp, Dishop, M., Graf, N., Ekim, M., Bouron Dal Soglio, D., Arseneau, J., Young, Rh, Sabbaghian, N., Srivastava, A., Priest, Jr, Foulkes, W. D.
Publikováno v:
Alma Mater Studiorum Università di Bologna-IRIS
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::e5b4546208aa5efa4dfe580a0e4384be
http://hdl.handle.net/2318/122321
http://hdl.handle.net/2318/122321
Autor:
Jack Goldblatt, Kym Mina, Angela Overkov, Mark R. Davis, Richard J.N. Allcock, Nigel G. Laing, Matthew C. Cook, Lyn Schofield, Gareth Baynam, Hugh Dawkins
Publikováno v:
American journal of medical genetics. Part A. 167(7)
We report on three Aboriginal Australian siblings with a unique phenotype which overlaps with known megalencephaly syndromes and RASopathies, including Costello syndrome. A gain-of-function mutation in MTOR was identified and represents the first rep
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4500fc478107c5bae98d729964675fd5
https://pubmed.ncbi.nlm.nih.gov/25851998
https://pubmed.ncbi.nlm.nih.gov/25851998
Publikováno v:
Australian Journal of Earth Sciences. 44:689-700
We have developed an automated method for sea‐floor classification for the South Tasman Rise, based on a SIMRAD EM12‐backscatter (13 kHz) mosaic and 47 sea‐floor samples. The samples have been divided into 3 distinct groups representing: (i) th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ea7772d13d1da1e325eaed099c2c531d
https://doi.org/10.1080/08120099708728346
https://doi.org/10.1080/08120099708728346
Akademický článek
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