학술논문
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Academic Journal
Rius, Rocio; Bennett, Neal; Bhattacharya, Kaustuv; Riley, Lisa; Yüksel, Zafer; Formosa, Luke; Compton, Alison; Dale, Russell; Cowley, Mark; Gayevskiy, Velimir; Al Tala, Saeed; Almehery, Abdulrahman; Ryan, Michael; Thorburn, David; Christodoulou, John; Nakamura, Ken
Human Mutation. 43(12)
Conference
Bertini, Enrico; Cohen, Bruce H.; Rahman, Shamima; Schiff, Manuel; Ardissone, Anna; Christodoulou, John; Falk, Marni; Goldstein, Amy; Haas, Richard; Horvath, Rita; McFarland, Robert; Murayama, Kei; Osaka, Hitoshi; Prigione, Alessandro; Prokisch, Holger; Rötig, Agnès; Schuelke, Markus; Suomalainen-Waartiovara, Anu; Thorburn, David; Zeman, Jiri; Zolkipli-Cunningham, Zarazuela; Diodato, Daria; Pällijeff, Pieti; Pennisi, Alessandra; Klein, Matthew; Maguire, Alison; Waller, Katie; Amanda; Wylie, Faye; Yeske, Philip
In Neuromuscular Disorders August 2023 33(8):700-709
Periodical
Bournazos, Adam M.; Riley, Lisa G.; Bommireddipalli, Shobhana; Ades, Lesley; Akesson, Lauren S.; Al-Shinnag, Mohammad; Alexander, Stephen I.; Archibald, Alison D.; Balasubramaniam, Shanti; Berman, Yemima; Beshay, Victoria; Boggs, Kirsten; Bojadzieva, Jasmina; Brown, Natasha J.; Bryen, Samantha J.; Buckley, Michael F.; Chong, Belinda; Davis, Mark R.; Dawes, Ruebena; Delatycki, Martin; Donaldson, Liz; Downie, Lilian; Edwards, Caitlin; Edwards, Matthew; Engel, Amanda; Ewans, Lisa J.; Faiz, Fathimath; Fennell, Andrew; Field, Michael; Freckmann, Mary-Louise; Gallacher, Lyndon; Gear, Russell; Goel, Himanshu; Goh, Shuxiang; Goodwin, Linda; Hanna, Bernadette; Harraway, James; Higgins, Megan; Ho, Gladys; Hopper, Bruce K.; Horton, Ari E.; Hunter, Matthew F.; Huq, Aamira J.; Josephi-Taylor, Sarah; Joshi, Himanshu; Kirk, Edwin; Krzesinski, Emma; Kumar, Kishore R.; Lemckert, Frances; Leventer, Richard J.; Lindsey-Temple, Suzanna E.; Lunke, Sebastian; Ma, Alan; Macaskill, Steven; Mallawaarachchi, Amali; Marty, Melanie; Marum, Justine E.; McCarthy, Hugh J.; Menezes, Manoj P.; McLean, Alison; Milnes, Di; Mohammad, Shekeeb; Mowat, David; Niaz, Aram; Palmer, Elizabeth E.; Patel, Chirag; Patel, Shilpan G.; Phelan, Dean; Pinner, Jason R.; Rajagopalan, Sulekha; Regan, Matthew; Rodgers, Jonathan; Rodrigues, Miriam; Roxburgh, Richard H.; Sachdev, Rani; Roscioli, Tony; Samarasekera, Ruvishani; Sandaradura, Sarah A.; Savva, Elena; Schindler, Tim; Shah, Margit; Sinnerbrink, Ingrid B.; Smith, Janine M.; Smith, Richard J.; Springer, Amanda; Stark, Zornitza; Strom, Samuel P.; Sue, Carolyn M.; Tan, Kenneth; Tan, Tiong Y.; Tantsis, Esther; Tchan, Michel C.; Thompson, Bryony A.; Trainer, Alison H.; van Spaendonck-Zwarts, Karin; Walsh, Rebecca; Warwick, Linda; White, Stephanie; White, Susan M.; Williams, Mark G.; Wilson, Meredith J.; Wong, Wui Kwan; Wright, Dale C.; Yap, Patrick; Yeung, Alison; Young, Helen; Jones, Kristi J.; Bennetts, Bruce; Cooper, Sandra T.; Abdulrasool, Ghusoon; Akesson, Lauren S.; Al Eryani, Ghamdan; Al-Shinnag, Mohammad; Arts, Peer; Bagnall, Richard; Baker, Naomi L.; Barnett, Christopher; Beecroft, Sarah; Bennetts, Bruce; Berbic, Marina; Beshay, Victoria; Black, Michael; Blackburn, Jim; Blombery, Piers; Boggs, Kirsten; Bournazos, Adam M.; Branford, Susan; Breen, Jimmy; Brown, Natasha J.; Bryen, Samantha J.; Burnett, Leslie; Canson, Daffodil; Cheong, Pak; Chew, Edward; Chong, Belinda; Christodoulou, John; Chung, Seo-Kyung; Clark, Mike; Cliffe, Corrina; Cole, Melissa; Collins, Felicity; Compton, Alison; Cooper, Antony; Cooper, Sandra T.; Corbett, Mark; Cowley, Mark; Davis, Mark R.; Delatycki, Martin; Dudding, Tracy; Edwards, Matthew; Eggers, Stefanie; Ewans, Lisa J.; Eyras, Eduardo; Faiz, Fathimath; Fernandez, Miriam Fanjul; Fellowes, Andrew; Fennell, Andrew; Field, Michael; Fleischer, Ron; Folland, Chiara; Fox, Lucy; Freckmann, Mary-Louise; Gaff, Clara; Galea, Melanie; Ghaoui, Roula; Goel, Himanshu; Gornanitis, Ilias; Ha, Thuong; Hanna, Bernadette; Harraway, James; Hayashi, Rippei; Hayes, Ian; Henderson, Alex; Hesson, Luke; Heyer, Erin; Hildebrand, Michael; Hipwell, Michael; Ho, Gladys; Horton, Ari E.; Hoskins, Cass; Hunter, Matthew F.; Jackson, Matilda; James, Paul; Jones, Kristi J.; Wong, Justin Jong-Leong; Josephi-Taylor, Sarah; Joshi, Himanshu; Kassahn, Karin; Kaub, Peter; Kevin, Lucy; Kirk, Edwin; Krzesinski, Emma; Kumble, Smitha; Kummerfeld, Sarah; Laing, Nigel; Lau, Chiyan; Lee, Eric; Leighton, Sarah; Lundie, Ben; Lunke, Sebastian; Mallawaarachchi, Amali; Mayoh, Chelsea; McGaughran, Julie; McLean, Alison; McPhillips, Mary; Meldrum, Cliff; Middleton, Edwina; Milnes, Di; Mina, Kym; Mowat, David; Nisselle, Amy; Oates, Emily; Oshlack, Alicia; Palmer, Elizabeth E.; Parasivam, Gayathri; Parsons, Michael; Patel, Chirag; Pinner, Jason R.; Quinn, Michael; Rasko, John; Ravenscroft, Gina; Ravine, Anja; Recsei, Krista; Regan, Matthew; Rehn, Jacqueline; Riley, Lisa G.; Robertson, Stephen; Ronan, Anne; Roscioli, Tony; Ryland, Georgina; Sadedin, Simon; Sandaradura, Sarah A.; Schreiber, Andreas; Scott, Hamish; Scott, Rodney; Semsarian, Christopher; Simons, Cas; Singer, Emma; Smith, Janine M.; Smyth, Renee; Spurdle, Amanda; Stark, Zornitza; Sullivan, Patricia; Sundercombe, Samantha; Tan, Tiong Y.; Tchan, Michel C.; Thompson, Bryony A.; Thorburn, David; Toubia, John; Trent, Ronald; Tudini, Emma; Voneague, Irina; Waddell, Leigh; Walker, Logan; Wallis, Mathew; Warnock, Nick; Weatheritt, Robert; White, Deborah; White, Susan M.; Williams, Mark G.; Wilson, Meredith J.; Winship, Ingrid; Worgan, Lisa; Wright, Dale C.; Wu, Kathy; Yeung, Alison; Ziolowski, Andrew
Genetics in Medicine; January 2022, Vol. 24 Issue: 1 p130-145, 16p
Academic Journal
Brown, Anna L; Sadras, Teresa ; Engler, Grant A ; Tunningley, Robert ; Kofler, Jennifer ; Leo, Paul J ; Cheah, Jesse ; Laskowski, Adrienne ; Frazier, Ann ; Stroud, David ; Ryan, Michael ; Thorburn, David ; Gilliland, D Gary ; Lewis, Ian D; Gonda, Thomas J; D’Andrea, Richard J
In Blood 6 December 2014 124(21):3591-3591
Academic Journal
Tan, Tiong Yang; De Silva, Michelle; Bell, Katrina; Gallacher, Lyndon; Rius, Rocio; Allan, Kirsten; Brown, Natasha J.; Tan, Natalie; Kumble, Smitha; Gear, Russell; Simons, Cas; Stroud, David; Thorburn, David; Christodoulou, John; White, Sue
Academic Journal
Lunke, Sebastian; Bouffler, Sophie; Patel, Chirag; Sandaradura, Sarah; Wilson, Meredith; Pinner, Jason; Hunter, Matthew; Barnett, Christopher P.; Wallis, Mathew; Kamien, Benjamin; Freckmann, Mary-Louise; Tan, Tiong Yang; Francis, David; Chong, Belinda; Phelan, Dean; Kassahn, Karin; Ha, Thuong; Gao, Song; Eggers, Stefanie; Sadedin, Simon; Boggs, Kirsten; Rakonjac, Ana; Brett, Gemma; De Silva, Michelle; Springer, Amanda; Ward, Michelle; Stallard, Kirsty; Simons, Cas; Conway, Thomas; Bell, Katrina; Halman, Andreas; Compton, Alison; Thorburn, David; Christodoulou, John; Stark, Zornitza
Academic Journal
Van Bergen, Nicole J.; Massey, Sean; Stait, Tegan; Ellery, Molly; Reljic, Boris; Formosa, Luke E.; Quigley, Anita; Dottori, Mirella; Thorburn, David; Stroud, David A.; Christodoulou, John
Academic Journal
Periodical
Chomicki, Oskar; Leef, George C.; Dodd, Nina; Thorburn, David; Schaeffer, Daniel G.; Mansfield, Harvey; Palmer, Frank
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