학술논문
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'학술논문'
에서 검색결과 20건 | 목록
1~20
Academic Journal
Rehan M. Villani; Bronwyn Terrill; Emma Tudini; Maddison E. McKenzie; Corrina C. Cliffe; Christopher N. Hahn; Ben Lundie; Tessa Mattiske; Ebony Matotek; Abbye E. McEwen; Sarah L. Nickerson; James Breen; Douglas M. Fowler; John Christodoulou; Lea Starita; Alan F. Rubin; Amanda B. Spurdle
The American Journal of Human Genetics. 112:1489-1495
Academic Journal
La Spina, Chloe; Cliffe, Corrina; Patel, Janki; Prasad, Kali; Fadaee, Shannon; Hajdu, Elektra; French, Hugh; Harraway, James; Sundercombe, Samantha; Berbic, Marina; Hesson, Luke B.; Galea, Melanie
Pathology. 58:S50-S51
Academic Journal
Nisselle, Amy ; Liddicoat, Douglas ; Cliffe, Corrina ; Gallacher, Lyndon ; Martyn, Melissa ; Hodgson, Jan ; Baker, Naomi L. ; Beshay, Victoria ; Fanjul-Fernandez, Miriam ; Fellowes, Andrew P. ; Lunke, Sebastian ; Phelan, Dean G. ; Roesley, Ain ; Stark, Zornitza ; Tan, Tiong Yang ; Thompson, Bryony ; Gaff, Clara L. ; Thorne, Natalie
In The American Journal of Human Genetics January 2026
Academic Journal
Edwin P. Kirk; Martin B. Delatycki; Alison D. Archibald; Erin Tutty; Jade Caruana; Jane L. Halliday; Sharon Lewis; Belinda J. McClaren; Ainsley J. Newson; Lisa Dive; Stephanie Best; Janet C. Long; Jeffrey Braithwaite; Martin J. Downes; Paul A. Scuffham; John Massie; Kristine Barlow-Stewart; Abhi Kulkarni; Amy Ruscigno; Anaita Kanga-Parabia; Bianca Rodrigues; Bruce H. Bennetts; Camron Ebzery; Clare Hunt; Corrina C. Cliffe; Crystle Lee; Dimitar Azmanov; Emily A. King; Evanthia O. Madelli; Futao Zhang; Gladys Ho; Isabelle Danos; Jan Liebelt; Janice Fletcher; Jillian Kennedy; John Beilby; Jon D. Emery; Julie McGaughran; Justine E. Marum; Katrina Scarff; Katrina Fisk; Katrina Harrison; Kirsten Boggs; Lana Giameos; Lara Fitzgerald; Lauren Thomas; Leslie Burnett; Lucinda Freeman; Madeleine Harris; Marina Berbic; Mark R. Davis; Marta Cifuentes Ochoa; Mathew Wallis; Meaghan Wall; Melissa T. M. Chow; Monica M. Ferrie; Nicholas Pachter; Nila Quayum; Nitzan Lang; Praveena Kasi Pandy; Rachael Casella; Richard J.N. Allcock; Royston Ong; Samantha Edwards; Samantha Sundercombe; Sarah Jelenich; Sarah Righetti; Sebastian Lunke; Sharanbeer Kaur; Sharyn Stock-Myer; Stefanie Eggers; Susan P. Walker; Tahlia Theodorou; Tara Catchpool; Tenielle Clinch; Tony Roscioli; Tristan Hardy; Ying Zhu; Zoe Fehlberg; Tiffany F. Boughtwood; Nigel G. Laing
New England Journal of Medicine. 391:1877-1889
Academic Journal
Rehan M. Villani; Bronwyn Terrill; Emma Tudini; Maddison E. McKenzie; Corrina C. Cliffe; Christopher N. Hahn; Ben Lundie; Tessa Mattiske; Ebony Matotek; Abbye E. McEwen; Sarah L. Nickerson; James Breen; Douglas M. Fowler; John Christodoulou; Lea Starita; Alan F. Rubin; Amanda B. Spurdle
medRxiv
Academic Journal
Dias, Kerith-Rae ; Shrestha, Rupendra ; Schofield, Deborah ; Evans, Carey-Anne ; O’Heir, Emily ; Zhu, Ying ; Zhang, Futao ; Standen, Krystle ; Weisburd, Ben ; Stenton, Sarah L. ; Sanchis-Juan, Alba ; Brand, Harrison ; Talkowski, Michael E. ; Ma, Alan ; Ghedia, Sondy ; Wilson, Meredith ; Sandaradura, Sarah A. ; Smith, Janine ; Kamien, Benjamin ; Turner, Anne ; Bakshi, Madhura ; Adès, Lesley C. ; Mowat, David ; Regan, Matthew ; McGillivray, George ; Savarirayan, Ravi ; White, Susan M. ; Tan, Tiong Yang ; Stark, Zornitza ; Brown, Natasha J. ; Pérez-Jurado, Luis A. ; Krzesinski, Emma ; Hunter, Matthew F. ; Akesson, Lauren ; Fennell, Andrew Paul ; Yeung, Alison ; Boughtwood, Tiffany ; Ewans, Lisa J. ; Kerkhof, Jennifer ; Lucas, Christopher ; Carey, Louise ; French, Hugh ; Rapadas, Melissa ; Stevanovski, Igor ; Deveson, Ira W. ; Cliffe, Corrina ; Elakis, George ; Kirk, Edwin P. ; Dudding-Byth, Tracy ; Fletcher, Janice ; Walsh, Rebecca ; Corbett, Mark A. ; Kroes, Thessa ; Gecz, Jozef ; Meldrum, Cliff ; Cliffe, Simon ; Wall, Meg ; Lunke, Sebastian ; North, Kathryn ; Amor, David J. ; Field, Michael ; Sadikovic, Bekim ; Buckley, Michael F. ; O’Donnell-Luria, Anne ; Roscioli, Tony
In Genetics in Medicine May 2024 26(5)
Academic Journal
Adam M. Bournazos; Lisa G. Riley; Shobhana Bommireddipalli; Lesley Ades; Lauren S. Akesson; Mohammad Al-Shinnag; Stephen I. Alexander; Alison D. Archibald; Shanti Balasubramaniam; Yemima Berman; Victoria Beshay; Kirsten Boggs; Jasmina Bojadzieva; Natasha J. Brown; Samantha J. Bryen; Michael F. Buckley; Belinda Chong; Mark R. Davis; Ruebena Dawes; Martin Delatycki; Liz Donaldson; Lilian Downie; Caitlin Edwards; Matthew Edwards; Amanda Engel; Lisa J. Ewans; Fathimath Faiz; Andrew Fennell; Michael Field; Mary-Louise Freckmann; Lyndon Gallacher; Russell Gear; Himanshu Goel; Shuxiang Goh; Linda Goodwin; Bernadette Hanna; James Harraway; Megan Higgins; Gladys Ho; Bruce K. Hopper; Ari E. Horton; Matthew F. Hunter; Aamira J. Huq; Sarah Josephi-Taylor; Himanshu Joshi; Edwin Kirk; Emma Krzesinski; Kishore R. Kumar; Frances Lemckert; Richard J. Leventer; Suzanna E. Lindsey-Temple; Sebastian Lunke; Alan Ma; Steven Macaskill; Amali Mallawaarachchi; Melanie Marty; Justine E. Marum; Hugh J. McCarthy; Manoj P. Menezes; Alison McLean; Di Milnes; Shekeeb Mohammad; David Mowat; Aram Niaz; Elizabeth E. Palmer; Chirag Patel; Shilpan G. Patel; Dean Phelan; Jason R. Pinner; Sulekha Rajagopalan; Matthew Regan; Jonathan Rodgers; Miriam Rodrigues; Richard H. Roxburgh; Rani Sachdev; Tony Roscioli; Ruvishani Samarasekera; Sarah A. Sandaradura; Elena Savva; Tim Schindler; Margit Shah; Ingrid B. Sinnerbrink; Janine M. Smith; Richard J. Smith; Amanda Springer; Zornitza Stark; Samuel P. Strom; Carolyn M. Sue; Kenneth Tan; Tiong Y. Tan; Esther Tantsis; Michel C. Tchan; Bryony A. Thompson; Alison H. Trainer; Karin van Spaendonck-Zwarts; Rebecca Walsh; Linda Warwick; Stephanie White; Susan M. White; Mark G. Williams; Meredith J. Wilson; Wui Kwan Wong; Dale C. Wright; Patrick Yap; Alison Yeung; Helen Young; Kristi J. Jones; Bruce Bennetts; Sandra T. Cooper; Ghusoon Abdulrasool; Ghamdan Al Eryani; Peer Arts; Richard Bagnall; Naomi L. Baker; Christopher Barnett; Sarah Beecroft; Marina Berbic; Michael Black; Jim Blackburn; Piers Blombery; Susan Branford; Jimmy Breen; Leslie Burnett; Daffodil Canson; Pak Cheong; Edward Chew; John Christodoulou; Seo-Kyung Chung; Mike Clark; Corrina Cliffe; Melissa Cole; Felicity Collins; Alison Compton; Antony Cooper; Mark Corbett; Mark Cowley; Tracy Dudding; Stefanie Eggers; Eduardo Eyras; Miriam Fanjul Fernandez; Andrew Fellowes; Ron Fleischer; Chiara Folland; Lucy Fox; Clara Gaff; Melanie Galea; Roula Ghaoui; Ilias Gornanitis; Thuong Ha; Rippei Hayashi; Ian Hayes; Alex Henderson; Luke Hesson; Erin Heyer; Michael Hildebrand; Michael Hipwell; Cass Hoskins; Matilda Jackson; Paul James; Justin Jong-Leong Wong; Karin Kassahn; Peter Kaub; Lucy Kevin; Smitha Kumble; Sarah Kummerfeld; Nigel Laing; Chiyan Lau; Eric Lee; Sarah Leighton; Ben Lundie; Chelsea Mayoh; Julie McGaughran; Mary McPhillips; Cliff Meldrum; Edwina Middleton; Kym Mina; Amy Nisselle; Emily Oates; Alicia Oshlack; Gayathri Parasivam; Michael Parsons; Michael Quinn; John Rasko; Gina Ravenscroft; Anja Ravine; Krista Recsei; Jacqueline Rehn; Stephen Robertson; Anne Ronan; Georgina Ryland; Simon Sadedin; Andreas Schreiber; Hamish Scott; Rodney Scott; Christopher Semsarian; Cas Simons; Emma Singer; Renee Smyth; Amanda Spurdle; Patricia Sullivan; Samantha Sundercombe; David Thorburn; John Toubia; Ronald Trent; Emma Tudini; Irina Voneague; Leigh Waddell; Logan Walker; Mathew Wallis; Nick Warnock; Robert Weatheritt; Deborah White; Ingrid Winship; Lisa Worgan; Kathy Wu; Andrew Ziolowski
Genetics in Medicine. 24:130-145
Academic Journal
Akesson, Lauren; Allcock, Richard; Ashton, Katie; Bell, Damon A.; Brown, Anna; Buckley, Michael; Burnett, John R.; Burrows, Linda; Byrne, Alicia; Chan, Eva; Cliffe, Corrina; Clifton-Bligh, Roderick; Dooley, Susan; Fernandez, Miriam Fanjul; Farnsworth, Elizabeth; Ha, Thuong; Henry, Denae; Holds, Duncan; Holman, Katherine; Jackson, Matilda; Kang, Sinlay; Luxford, Catherine; McManus, Sam; Mehrtens, Rachael; Meldrum, Cliff; Mossman, David; Pantaleo, Sarah-Jane; Phelan, Dean; Pontikinas, Electra; Ravine, Anja; Roscioli, Tony; Scott, Rodney; Simons, Keryn; Vanwageningen, Oliver; Tudini, Emma ; Andrews, James ; Lawrence, David M. ; King-Smith, Sarah L. ; Baker, Naomi ; Baxter, Leanne ; Beilby, John ; Bennetts, Bruce ; Beshay, Victoria ; Black, Michael ; Boughtwood, Tiffany F. ; Brion, Kristian ; Cheong, Pak Leng ; Christie, Michael ; Christodoulou, John ; Chong, Belinda ; Cox, Kathy ; Davis, Mark R. ; Dejong, Lucas ; Dinger, Marcel E. ; Doig, Kenneth D. ; Douglas, Evelyn ; Dubowsky, Andrew ; Ellul, Melissa ; Fellowes, Andrew ; Fisk, Katrina ; Fortuno, Cristina ; Friend, Kathryn ; Gallagher, Renee L. ; Gao, Song ; Hackett, Emma ; Hadler, Johanna ; Hipwell, Michael ; Ho, Gladys ; Hollway, Georgina ; Hooper, Amanda J. ; Kassahn, Karin S. ; Krishnaraj, Rahul ; Lau, Chiyan ; Le, Huong ; San Leong, Huei ; Lundie, Ben ; Lunke, Sebastian ; Marty, Anthony ; McPhillips, Mary ; Nguyen, Lan T. ; Nones, Katia ; Palmer, Kristen ; Pearson, John V. ; Quinn, Michael C.J. ; Rawlings, Lesley H. ; Sadedin, Simon ; Sanchez, Louisa ; Schreiber, Andreas W. ; Sigalas, Emanouil ; Simsek, Aygul ; Soubrier, Julien ; Stark, Zornitza ; Thompson, Bryony A. ; U, James ; Vakulin, Cassandra G. ; Wells, Amanda V. ; Wise, Cheryl A. ; Woods, Rick ; Ziolkowski, Andrew ; Brion, Marie-Jo ; Scott, Hamish S. ; Thorne, Natalie P. ; Spurdle, Amanda B.
In The American Journal of Human Genetics 3 November 2022 109(11):1960-1973
Academic Journal
Samantha Leigh Sundercombe; Marina Berbic; Carey-Anne Evans; Corrina Cliffe; George Elakis; Suzanna E.L. Temple; Arthavan Selvanathan; Lisa Ewans; Nila Quayum; Cheng-Yee Nixon; Kerith-Rae Dias; Sarah Lang; Anna Richards; Shuxiang Goh; Meredith Wilson; David Mowat; Rani Sachdev; Sarah Sandaradura; Maie Walsh; Michelle A. Farrar; Rebecca Walsh; Janice Fletcher; Edwin P. Kirk; Guus M. Teunisse; Deborah Schofield; Michael Francis Buckley; Ying Zhu; Tony Roscioli
The Journal of Molecular Diagnostics. 23:894-905
Academic Journal
Pathology. 56:S18-S18
Academic Journal
Sebastian, Lunke; Stefanie, Eggers; Meredith, Wilson; Chirag, Patel; Christopher P, Barnett; Jason, Pinner; Sarah A, Sandaradura; Michael F, Buckley; Emma I, Krzesinski; Michelle G, de Silva; Gemma R, Brett; Kirsten, Boggs; David, Mowat; Edwin P, Kirk; Lesley C, Adès; Lauren S, Akesson; David J, Amor; Samantha, Ayres; Anne, Baxendale; Sarah, Borrie; Alessandra, Bray; Natasha J, Brown; Cheng Yee, Chan; Belinda, Chong; Corrina, Cliffe; Martin B, Delatycki; Matthew, Edwards; George, Elakis; Michael C, Fahey; Andrew, Fennell; Lindsay, Fowles; Lyndon, Gallacher; Megan, Higgins; Katherine B, Howell; Lauren, Hunt; Matthew F, Hunter; Kristi J, Jones; Sarah, King; Smitha, Kumble; Sarah, Lang; Maelle, Le Moing; Alan, Ma; Dean, Phelan; Michael C J, Quinn; Anna, Richards; Christopher M, Richmond; Jessica, Riseley; Jonathan, Rodgers; Rani, Sachdev; Simon, Sadedin; Luregn J, Schlapbach; Janine, Smith; Amanda, Springer; Natalie B, Tan; Tiong Y, Tan; Suzanna L, Temple; Christiane, Theda; Anand, Vasudevan; Susan M, White; Alison, Yeung; Ying, Zhu; Melissa, Martyn; Stephanie, Best; Tony, Roscioli; John, Christodoulou; Zornitza, Stark
Obstetrical & Gynecological Survey. 75:662-664
Academic Journal
Pathology. 54:S35-S35
Academic Journal
Lunke, Sebastian; Eggers, Stefanie; Wilson, Meredith; Patel, Chirag; Barnett, Christopher P.; Pinner, Jason; Sandaradura, Sarah A.; Buckley, Michael F.; Krzesinski, Emma I.; de Silva, Michelle G.; Brett, Gemma R.; Boggs, Kirsten; Mowat, David; Kirk, Edwin P.; Adès, Lesley C.; Akesson, Lauren S.; Amor, David J.; Ayres, Samantha; Baxendale, Anne; Borrie, Sarah; Bray, Alessandra; Brown, Natasha J.; Chan, Cheng Yee; Chong, Belinda; Cliffe, Corrina; Delatycki, Martin B.; Edwards, Matthew; Elakis, George; Fahey, Michael C.; Fennell, Andrew; Fowles, Lindsay; Gallacher, Lyndon; Higgins, Megan; Howell, Katherine B.; Hunt, Lauren; Hunter, Matthew F.; Jones, Kristi J.; King, Sarah; Kumble, Smitha; Lang, Sarah; Le Moing, Maelle; Ma, Alan; Phelan, Dean; Quinn, Michael C. J.; Richards, Anna; Richmond, Christopher M.; Riseley, Jessica; Rodgers, Jonathan; Sachdev, Rani; Sadedin, Simon; Schlapbach, Luregn J.; Smith, Janine; Springer, Amanda; Tan, Natalie B.; Tan, Tiong Y.; Temple, Suzanna L.; Theda, Christiane; Vasudevan, Anand; White, Susan M.; Yeung, Alison; Zhu, Ying; Martyn, Melissa; Best, Stephanie; Roscioli, Tony; Christodoulou, John; Stark, Zornitza
Obstetrical & Gynecological Survey. Nov 01, 2020 75(11):662-664
Academic Journal
Alison D, Archibald; Belinda J, McClaren; Jade, Caruana; Erin, Tutty; Emily A, King; Jane L, Halliday; Stephanie, Best; Anaita, Kanga-Parabia; Bruce H, Bennetts; Corrina C, Cliffe; Evanthia O, Madelli; Gladys, Ho; Jan, Liebelt; Janet C, Long; Jeffrey, Braithwaite; Jillian, Kennedy; John, Massie; Jon D, Emery; Julie, McGaughran; Justine E, Marum; Kirsten, Boggs; Kristine, Barlow-Stewart; Leslie, Burnett; Lisa, Dive; Lucinda, Freeman; Mark R, Davis; Martin J, Downes; Mathew, Wallis; Monica M, Ferrie; Nicholas, Pachter; Paul A, Scuffham; Rachael, Casella; Richard J N, Allcock; Royston, Ong; Samantha, Edwards; Sarah, Righetti; Sebastian, Lunke; Sharon, Lewis; Susan P, Walker; Tiffany F, Boughtwood; Tristan, Hardy; Ainsley J, Newson; Edwin P, Kirk; Nigel G, Laing; Martin B, Delatycki; The Mackenzie's Mission Study Team
J Pers Med
Academic Journal
Buckley, Michael F.; Elakis, George; Lang, Sarah; Richards, Anna; Cliffe, Corrina; Chan, Cheng-Yee; Kirk, Edwin P.; Zhu, Ying; Roscioli, Tony
Pathology. 52:S29-S29
Academic Journal
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