학술논문
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'학술논문'
에서 검색결과 14건 | 목록
1~20
Academic Journal
Daniella H. Hock; Nikeisha J. Caruana; Liana N. Semcesen; Nicole J. Lake; Luke E. Formosa; Sumudu S. C. Amarasekera; Tegan Stait; Simone Tregoning; Leah E. Frajman; Adam M. Bournazos; David R. L. Robinson; Megan Ball; Boris Reljic; Bryony Ryder; Mathew J. Wallis; Anand Vasudevan; Cara Beck; Heidi Peters; Joy Lee; Natalie B. Tan; Mary-Louise Freckmann; MitoMDT Diagnostic Network for Genomics and Omics; Vasiliki Karlaftis; Chantal Attard; Paul Monagle; Amanda Samarasinghe; Rosie Brown; Weimin Bi; Monkol Lek; Robert McFarland; Robert W. Taylor; Michael T. Ryan; Sandra T. Cooper; Zornitza Stark; John Christodoulou; Alison G. Compton; David R. Thorburn; David A. Stroud
Genome Medicine, Vol 17, Iss 1, Pp 1-24 (2025)
Academic Journal
Vinod Dagar; Wendy Hutchison; Andrea Muscat; Anita Krishnan; David Hoke; Ashley Buckle; Priscillia Siswara; David J. Amor; Jeffrey Mann; Jason Pinner; Alison Colley; Meredith Wilson; Rani Sachdev; George McGillivray; Matthew Edwards; Edwin Kirk; Felicity Collins; Kristi Jones; Juliet Taylor; Ian Hayes; Elizabeth Thompson; Christopher Barnett; Eric Haan; Mary-Louise Freckmann; Anne Turner; Susan White; Ben Kamien; Alan Ma; Fiona Mackenzie; Gareth Baynam; Cathy Kiraly-Borri; Michael Field; Tracey Dudding-Byth; Elizabeth M. Algar
Clinical Epigenetics, Vol 10, Iss 1, Pp 1-13 (2018)
Academic Journal
Kerry A Miller; Casey J Ah-Cann; Megan F Welfare; Tiong Y Tan; Kate Pope; Georgina Caruana; Mary-Louise Freckmann; Ravi Savarirayan; John F Bertram; Michael S Dobbie; John F Bateman; Peter G Farlie
PLoS Genetics, Vol 9, Iss 8, p e1003746 (2013)
Academic Journal
Daniella H. Hock; Nikeisha J. Caruana; Liana N. Semcesen; Nicole J. Lake; Luke E. Formosa; Sumudu S. C. Amarasekera; Tegan Stait; Simone Tregoning; Leah E. Frajman; David R. L. Robinson; Megan Ball; Boris Reljic; Bryony Ryder; Mathew J. Wallis; Anand Vasudevan; Cara Beck; Heidi Peters; Joy Lee; Natalie B. Tan; Mary-Louise Freckmann; Vasiliki Karlaftis; Chantal Attard; Paul Monagle; Amanda Samarasinghe; Rosie Brown; Weimin Bi; Monkol Lek; Robert McFarland; Robert W. Taylor; Michael T. Ryan; Zornitza Stark; John Christodoulou; Alison G. Compton; David R. Thorburn; David A. Stroud
Academic Journal
Lisa J. Ewans; Andre E. Minoche; Deborah Schofield; Rupendra Shrestha; Clare Puttick; Ying Zhu; Alexander Drew; Velimir Gayevskiy; George Elakis; Corrina Walsh; Lesley C. Adès; Alison Colley; Carolyn Ellaway; Carey-Anne Evans; Mary-Louise Freckmann; Linda Goodwin; Anna Hackett; Benjamin Kamien; Edwin P. Kirk; Michelle Lipke; David Mowat; Elizabeth Palmer; Sulekha Rajagopalan; Anne Ronan; Rani Sachdev; William Stevenson; Anne Turner; Meredith Wilson; Lisa Worgan; Marie-Christine Morel-Kopp; Michael Field; Michael F. Buckley; Mark J. Cowley; Marcel E. Dinger; Tony Roscioli
Eur J Hum Genet
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
Margit Shah; Arthavan Selvanathan; Gareth Baynam; Yemima Berman; Tiffany Boughtwood; Mary‐Louise Freckmann; Gayathri Parasivam; Susan M White; Natalie J Roberts; Edwin P Kirk; Alan SL Ma; Rani Sachdev
J Paediatr Child Health
Academic Journal
Megan Ball; Sophie E. Bouffler; Christopher B. Barnett; Mary-Louise Freckmann; Matthew F. Hunter; Benjamin Kamien; Karin S. Kassahn; Sebastian Lunke; Chirag V. Patel; Jason Pinner; Tony Roscioli; Sarah A. Sandaradura; Hamish S. Scott; Tiong Y. Tan; Mathew Wallis; Alison G. Compton; David R. Thorburn; Zornitza Stark; John Christodoulou
Genetics in Medicine. 27:101293
Academic Journal
Rani Sachdev; Mike Field; Gareth S Baynam; John Beilby; Maria Berarducci; Yemima Berman; Tiffany Boughtwood; Marie B Cusack; Vanessa Fitzgerald; Jeffery Fletcher; Mary‐Louise Freckmann; Natalie J Roberts; Edwin Kirk; Ben Lundie; Sebastian Lunke; Lesley McGregor; David Mowat; Gayathri Parasivam; Vanessa Tyrell; Mathew Wallis; Susan M White; Alan S L Ma
J Paediatr Child Health
Academic Journal
Magdalena Koczkowska; Tom Callens; Yunjia Chen; Alicia Gomes; Alesha D. Hicks; Angela Sharp; Eric Johns; Kim Armfield Uhas; Linlea Armstrong; Katherine Armstrong Bosanko; Dusica Babovic‐Vuksanovic; Laura Baker; Donald G. Basel; Mario Bengala; James T. Bennett; Chelsea Chambers; Lola K. Clarkson; Maurizio Clementi; Fanny M. Cortés; Mitch Cunningham; M. Daniela D'Agostino; Martin B. Delatycki; Maria C. Digilio; Laura Dosa; Silvia Esposito; Stephanie Fox; Mary‐Louise Freckmann; Christine Fauth; Teresa Giugliano; Sandra Giustini; Allison Goetsch; Yael Goldberg; Robert S. Greenwood; Cristin Griffis; Karen W. Gripp; Punita Gupta; Eric Haan; Rachel K. Hachen; Tamara L. Haygarth; Concepción Hernández‐Chico; Katelyn Hodge; Robert J. Hopkin; Louanne Hudgins; Sandra Janssens; Kory Keller; Geraldine Kelly‐Mancuso; Aaina Kochhar; Bruce R. Korf; Andrea M. Lewis; Jan Liebelt; Angie Lichty; Robert H. Listernick; Michael J. Lyons; Isabelle Maystadt; Mayra Martinez Ojeda; Carey McDougall; Lesley K. McGregor; Daniela Melis; Nancy Mendelsohn; Malgorzata J.M. Nowaczyk; June Ortenberg; Karin Panzer; John G. Pappas; Mary Ella Pierpont; Giulio Piluso; Valentina Pinna; Eniko K. Pivnick; Dinel A. Pond; Cynthia M. Powell; Caleb Rogers; Noa Ruhrman Shahar; S. Lane Rutledge; Veronica Saletti; Sarah A. Sandaradura; Claudia Santoro; Ulrich A. Schatz; Allison Schreiber; Daryl A. Scott; Elizabeth A. Sellars; Ruth Sheffer; Elizabeth Siqveland; John M. Slopis; Rosemarie Smith; Alberto Spalice; David W. Stockton; Haley Streff; Amy Theos; Gail E. Tomlinson; Grace Tran; Pamela L. Trapane; Eva Trevisson; Nicole J. Ullrich; Jenneke Van den Ende; Samantha A. Schrier Vergano; Stephanie E. Wallace; Michael F. Wangler; David D. Weaver; Kaleb H. Yohay; Elaine Zackai; Jonathan Zonana; Vickie Zurcher; Kathleen B. M. Claes; Marica Eoli; Yolanda Martin; Katharina Wimmer; Alessandro De Luca; Eric Legius; Ludwine M. Messiaen
Human Mutation. 41:299-315
Academic Journal
Polakit Teekakirikul; Wenjuan Zhu; Xinxiu Xu; Cullen Young; Tuantuan Tan; Amanda M. Smith; Chengdong Wang; Kevin A. Peterson; George C. Gabriel; Sebastian Ho; Yi Sheng; Anne Moreau de Bellaing; Daniel Sonnenberg; Jiuanne-huey Lin; Elisavet Fotiou; Gennadiy Tenin; Michael X. Wang; Yijen L. Wu; Timothy Feinstein; William Devine; Honglan Gou; Abha Bais; Maliha Zahid; Timothy C. Wong; Ferhaan Ahmad; Michael Rynkiewicz; William J. Lehman; Bernard Keavney; Tero-Pekka Alastalo; Mary-Louise Freckmann; Kyle Orwig; Steve Murray; Stephanie M. Ware; Hui Zhao; Brian Feingold; Cecilia W. Lo
SSRN Electronic Journal.
Academic Journal
Polakit Teekakirikul; Wenjuan Zhu; Xinxiu Xu; Cullen B. Young; Tuantuan Tan; Amanda M. Smith; Chengdong Wang; Kevin A. Peterson; George C. Gabriel; Sebastian Ho; Yi Sheng; Anne Moreau de Bellaing; Daniel A. Sonnenberg; Jiuann-huey Lin; Elisavet Fotiou; Gennadiy Tenin; Michael X. Wang; Yijen L. Wu; Timothy Feinstein; William Devine; Honglan Gou; Abha S. Bais; Benjamin J. Glennon; Maliha Zahid; Timothy C. Wong; Ferhaan Ahmad; Michael J. Rynkiewicz; William J. Lehman; Bernard Keavney; Tero-Pekka Alastalo; Mary-Louise Freckmann; Kyle Orwig; Steve Murray; Stephanie M. Ware; Hui Zhao; Brian Feingold; Cecilia W. Lo
Cell Rep Med
Teekakirikul, P, Zhu, W, Xu, X, Young, C B, Tan, T, Smith, A M, Wang, C, Peterson, K A, Gabriel, G C, Ho, S, Sheng, Y, Moreau de Bellaing, A, Sonnenberg, D A, Lin, J-H, Fotiou, E, Tenin, G, Wang, M X, Wu, Y L, Feinstein, T, Devine, W, Gou, H, Bais, A S, Glennon, B J, Zahid, M, Wong, T C, Ahmad, F, Rynkiewicz, M J, Lehman, W J, Keavney, B, Alastalo, T-P, Freckmann, M-L, Orwig, K, Murray, S, Ware, S M, Zhao, H, Feingold, B & Lo, C W 2022, 'Genetic resiliency associated with dominant lethal TPM1 mutation causing atrial septal defect with high heritability', Cell reports. Medicine, vol. 3, no. 2, pp. 100501. https://doi.org/10.1016/j.xcrm.2021.100501
Teekakirikul, P, Zhu, W, Xu, X, Young, C B, Tan, T, Smith, A M, Wang, C, Peterson, K A, Gabriel, G C, Ho, S, Sheng, Y, Moreau de Bellaing, A, Sonnenberg, D A, Lin, J-H, Fotiou, E, Tenin, G, Wang, M X, Wu, Y L, Feinstein, T, Devine, W, Gou, H, Bais, A S, Glennon, B J, Zahid, M, Wong, T C, Ahmad, F, Rynkiewicz, M J, Lehman, W J, Keavney, B, Alastalo, T-P, Freckmann, M-L, Orwig, K, Murray, S, Ware, S M, Zhao, H, Feingold, B & Lo, C W 2022, 'Genetic resiliency associated with dominant lethal TPM1 mutation causing atrial septal defect with high heritability', Cell reports. Medicine, vol. 3, no. 2, pp. 100501. https://doi.org/10.1016/j.xcrm.2021.100501
Academic Journal
Ann E. Frazier; Alison G. Compton; Yoshihito Kishita; Daniella H. Hock; AnneMarie E. Welch; Sumudu S.C. Amarasekera; Rocio Rius; Luke E. Formosa; Atsuko Imai-Okazaki; David Francis; Min Wang; Nicole J. Lake; Simone Tregoning; Jafar S. Jabbari; Alexis Lucattini; Kazuhiro R. Nitta; Akira Ohtake; Kei Murayama; David J. Amor; George McGillivray; Flora Y. Wong; Marjo S. van der Knaap; R. Jeroen Vermeulen; Esko J. Wiltshire; Janice M. Fletcher; Barry Lewis; Gareth Baynam; Carolyn Ellaway; Shanti Balasubramaniam; Kaustuv Bhattacharya; Mary-Louise Freckmann; Susan Arbuckle; Michael Rodriguez; Ryan J. Taft; Simon Sadedin; Mark J. Cowley; André E. Minoche; Sarah E. Calvo; Vamsi K. Mootha; Michael T. Ryan; Yasushi Okazaki; David A. Stroud; Cas Simons; John Christodoulou; David R. Thorburn
Frazier, A E, Compton, A G, Kishita, Y, Hock, D H, Welch, A M E, Amarasekera, S S C, Rius, R, Formosa, L E, Imai-Okazaki, A, Francis, D, Wang, M, Lake, N J, Tregoning, S, Jabbari, J S, Lucattini, A, Nitta, K R, Ohtake, A, Murayama, K, Amor, D J, McGillivray, G, Wong, F Y, van der Knaap, M S, Vermeulen, R J, Wiltshire, E J, Fletcher, J M, Lewis, B, Baynam, G, Ellaway, C, Balasubramaniam, S, Bhattacharya, K, Freckmann, M L, Arbuckle, S, Rodriguez, M, Taft, R J, Sadedin, S, Cowley, M J, Minoche, A E, Calvo, S E, Mootha, V K, Ryan, M T, Okazaki, Y, Stroud, D A, Simons, C, Christodoulou, J & Thorburn, D R 2021, 'Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus', Med, vol. 2, no. 1, pp. 49-73.e10. https://doi.org/10.1016/j.medj.2020.06.004
Report
Todd, Emily; Yau, Kyle; Royston Ong; Slee, Jennie; McGillivray, George; Barnett, Christopher; Goknur Haliloglu; Talim, Beril; Akcoren, Zuhal; Kariminejad, Ariana; Cairns, Anita; Clarke, Nigel; Mary-Louise Freckmann; Romero, Norma; Williams, Denise; Sewry, Caroline; Colley, Alison; Ryan, Monique; Kiraly-Borri, Cathy; Sivadorai, Padma; Allcock, Richard; Beeson, David; Maxwell, Susan; Davis, Mark; Laing, Nigel; Ravenscroft, Gianina
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제한된 항목
[AR] Mary-Louise Freckmann
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