학술논문
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'학술논문'
에서 검색결과 13건 | 목록
1~20
Academic Journal
Amali Mallawaarachchi; Hugh McCarthy; Thomas A. Forbes; Kushani Jayasinghe; Chirag Patel; Stephen I. Alexander; Tiffany Boughtwood; Jeffrey Braithwaite; Aron Chakera; Sam Crafter; Ira W. Deveson; Randall Faull; Trudie Harris; Lilian Johnstone; Matthew Jose; Anna Leaver; Melissa H. Little; Daniel MacArthur; Tessa Mattiske; Christine Mincham; Kathy Nicholls; Catherine Quinlan; Michael C. J. Quinn; Gopala Rangan; Jessica Ryan; Cas Simons; Ian Smyth; Madhivanan Sundaram; Peter Trnka; Laura Wedd; Erik Biros; Zornitza Stark; Andrew Mallett
BMC Nephrology, Vol 26, Iss 1, Pp 1-11 (2025)
Academic Journal
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
Genetics in Medicine Open, Vol 2, Iss , Pp 101842- (2024)
Academic Journal
Karagh E. Loring; Tessa Mattiske; Kristie Lee; Aneta Zysk; Matilda R. Jackson; Jeffrey L. Noebels; Cheryl Shoubridge
Neurobiology of Disease, Vol 153, Iss , Pp 105329- (2021)
Academic Journal
Matilda R. Jackson; Kristie Lee; Tessa Mattiske; Emily J. Jaehne; Ezgi Ozturk; Bernhard T. Baune; Terence J. O'Brien; Nigel Jones; Cheryl Shoubridge
Neurobiology of Disease, Vol 105, Iss , Pp 245-256 (2017)
Academic Journal
Tessa Mattiske; May H Tan; Oliver Dearsley; Desiree Cloosterman; Charles S Hii; Jozef Gécz; Cheryl Shoubridge
PLoS ONE, Vol 13, Iss 11, p e0206914 (2018)
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
Renee Johnson; Robert A Fletcher; Stacey Peters; Monique Ohanian; Magdalena Soka; Andrei Smolnikov; Katherine E Abihider; Michael J Ackerman; Flavie Ader; Mohammed M Akhtar; Ahmad S Amin; Euan A Ashley; John J Atherton; Rachel Austin; Annette F Baas; Richard D Bagnall; Samantha Barratt Ross; Jean-Louis Blouin; Emily E Brown; Henning Bundgaard; Douglas Cannie; Przemyslaw Chmielewski; Gemma Correnti; Maria Generosa Crespo-Leiro; Matteo Dal Ferro; Lisa M Dellefave-Castillo; Fernando Dominguez; Dennis Dooijes; Anne M Dybro; Youssef Ed Demri; Mohamed El Hachmi; Luis Escobar-Lopez; Sarah Jajesnica Foye; Maria Franaszczyk; Marta Gigli; Esther Gonzalez Lopez; Adeline Goudal; Sharon Graw; Michel Guipponi; Eric Haan; Jan Haas; Daniel J Hammersley; Frederikke G Hansen; Christopher S Hayward; Thomas Morris Hey; Stephane Heymans; Carolyn Y Ho; Arjan C Houweling; Jodie Ingles; Angela Ingrey; Andrew Jabbour; Paul A James; Joeri A Jansweijer; Jan D H Jongbloed; Anne M Keogh; Jose M Larrañaga-Moreira; Ronald H Lekanne Deprez; Ivan Macciocca; Peter S Macdonald; Nicolas Mansencal; Julia Mansour; Cristina Martinez-Veira; Barbara McDonough; Julie McGaughran; Kristen Medo; Marco Merlo; Ewa Michalak; Lorenzo Monserrat; Helen Mountain; Steven A Muller; Anne M Murphy; Brittney Murray; Emily C Oates; Elizabeth Ormondroyd; Nicholas Pachter; Alessia Paldino; Aurélien Palmyre; Naveen L Pereira; Kermshlise C Picard; Nicola Poplawski; Sanjay Prasad; Julie Proukhnitzky; Jean-Francois Pruny; Patricia Reant; Pascale Richard; Anne Ronan; Farbod Sedaghat-Hamedani; Christopher Semsarian; Garrett Storm; Sophie Stroeks; Petros Syrris; Matthew R G Taylor; Kate Thomson; Tina Thompson; J Peter van Tintelen; Christoffer Rasmus Vissing; Kathryn E Waddell-Smith; Mathew Wallis; Dominica Zentner; Lesley Ades; Dimithu Alankarage; Morgan Almog; Mohammad Al-Shinnag; Chris Barnett; Gillian M Blue; Simon Bodek; Kirsten Boggs; Michael Bogwitz; Tiffany Boughtwood; Alessandra Bray; Marie-Jo Brion; Jaye Brown; Rob Bryson-Richardson; Leslie Burnett; Charlotte Burns; Michelle Cao; Will Carr; Sarah Casauria; Heather Chalinor; Yuchen Chang; Gavin Chapman; Theodosia Charitou; Belinda Chong; Felicity Collins; Kathy Cox; Fiona Cunningham; Debjani Das; Jason Davis; Andrew Davis; Paul De Fazio; Michelle de Silva; Nicola Den Elzen; Sophie Devery; Julia Dobbins; Sally L Dunwoodie; Nathan Dwyer; Stefanie Elbracht-Leong; David Elliott; Annabel Enriquez; Diane Fatkin; Vanessa Fear; Miriam Fine; Keri Finlay; Denisse Garza; Eleni Giannoulatou; Laura Gongolidis; Belinda Gray; Cassie Greer; Mathilda Haas; Bernadette Hanna; Richard Harvey; Janette Hayward; Carmen Herrera; Adam Hill; Georgie Hollingsworth; Georgina Hollway; Ari E Horton; Denise Howting; Joanne Isbister; Matilda Jackson; Paul James; Sarah Jane-Pantaleo; Andrew Kelly; Sarah King-Smith; Edwin Kirk; Sarah Kummerfeld; Timo Lassman; Jonathon Lipton; Sebastian Lunke; Paul MacIntyre; Evanthia O Madelli; Amali Mallawaarachchi; Ellenore Martin; Jacob Mathew; Tessa Mattiske; Alison McLean; James McNamara; Caroline Medi; Alejandro Metke; Di Milnes; Michael Milward; Ansley Morrish; Jim Morwood; David Mowat; Chai-Ann Ng; Natalie Nowak; Noelia Nunez Martinez; Sinead O'Sullivan; Angela Overkov; Chirag Patel; Mark Perrin; Matthew Perry; Andreas Pflaumer; Peta Phillips; Thuan Phuong; Rachel Pope-Couston; Nicola K Poplawski; Preeti Punni; Michael C J Quinn; Sulekha Rajagopalan; Hariharan Raju; Emma M Rath; Matthew Regan; Jonathan Rogers; Mark Ryan; Sarah Sandaradura; Nicole Schonrock; Paul Scuffham; Isabella Sherburn; Mary-Clare Sherlock; Emma Singer; Carla Smerdon; Janine Smith; Renee Smyth; Zornitza Stark; Raymond Sy; Dotti Tang; Jessica Taylor; Shelby Taylor; Michel Tchan; Jordan Thorpe; Alison Trainer; Gunjan Trivedi; Giulia Valente; Karin van Spaendonck-Zwarts; Jamie Vandenberg; Kunal Verma; Miranda Vidgen; Jitendra Vohra; Kathryn Waddel-Smith; Robert G Weintraub; Meredith Wilson; David Winlaw; Lisa Worgan; Linda Wornham; Kathy Wu; Laura Yeates; Clare Arnott; Ali J Marian; Jaewon Oh; Siv Fokstuen; Cynthia A James; Roberto Barriales-Villa; Benjamin Meder; Karim Wahbi; John R Giudicessi; Victoria N Parikh; James S Ware; Nicolas Piriou; Caroline Rooryck; Neal K Lakdawala; Luisa Mestroni; Gianfranco Sinagra; Perry M Elliott; Hugh Watkins; Elizabeth M McNally; Philippe Charron; Karin Y van Spaendonck-Zwarts; Pablo Garcia-Pavia; Maria Luisa Peña-Peña; Jens Mogensen; Alex Hoerby Christensen; Zofia T Bilińska; Torsten B Rasmussen; Jonathan G Seidman; Christine E Seidman; Anneline S J M te Riele; Job A J Verdonschot; Yigal M Pinto; Imke Christiaans
European Heart Journal.
Academic Journal
Yuchen Chang; Emma M. Rath; Magdalena Soka; Emma S. Singer; Gunjan Trivedi; Charlotte Burns; Rachel Austin; Tiffany Boughtwood; Jaye S. Brown; Sarah Casauria; Belinda Chong; Jasmina Cvetkovska; Sally L. Dunwoodie; Sebastian Lunke; Tessa Mattiske; Julie McGaughran; Sarah-Jane Pantaleo; Michael C.J. Quinn; Chris Semsarian; Ivan Macciocca; Jodie Ingles; Diane Fatkin; Eleni Giannoulatou; Richard D. Bagnall
Genetics in Medicine. :101626
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
Zornitza Stark; Tiffany Boughtwood; Matilda Haas; Jeffrey Braithwaite; Clara L. Gaff; Ilias Goranitis; Amanda B. Spurdle; David P. Hansen; Oliver Hofmann; Nigel Laing; Sylvia Metcalfe; Ainsley J. Newson; Hamish S. Scott; Natalie Thorne; Robyn L. Ward; Marcel E. Dinger; Stephanie Best; Janet C. Long; Sean M. Grimmond; John Pearson; Nicola Waddell; Christopher P. Barnett; Matthew Cook; Michael Field; David Fielding; Stephen B. Fox; Jozef Gecz; Adam Jaffe; Richard J. Leventer; Paul J. Lockhart; Sebastian Lunke; Andrew J. Mallett; Julie McGaughran; Linda Mileshkin; Katia Nones; Tony Roscioli; Ingrid E. Scheffer; Christopher Semsarian; Cas Simons; David M. Thomas; David R. Thorburn; Richard Tothill; Deborah White; Sally Dunwoodie; Peter T. Simpson; Peta Phillips; Marie-Jo Brion; Keri Finlay; Michael CJ. Quinn; Tessa Mattiske; Emma Tudini; Kirsten Boggs; Sean Murray; Kathy Wells; John Cannings; Andrew H. Sinclair; John Christodoulou; Kathryn N. North
The American Journal of Human Genetics. 110:419-426
Academic Journal
Monica H. N. Thai; Alison Gardner; Laura Redpath; Tessa Mattiske; Oliver Dearsley; Marie Shaw; Anneke T. Vulto‐van Silfhout; Rolph Pfundt; Joanne Dixon; Julie McGaughran; Luis A. Pérez‐Jurado; Jozef Gécz; Cheryl Shoubridge
Human Mutation, 41, 8, pp. 1407-1424
Academic Journal
Rocio Rius; Alison G. Compton; Naomi L. Baker; Shanti Balasubramaniam; Stephanie Best; Kaustuv Bhattacharya; Kirsten Boggs; Tiffany Boughtwood; Jeffrey Braithwaite; Drago Bratkovic; Alessandra Bray; Marie-Jo Brion; Jo Burke; Sarah Casauria; Belinda Chong; David Coman; Shannon Cowie; Mark Cowley; Michelle G. de Silva; Martin B. Delatycki; Samantha Edwards; Carolyn Ellaway; Michael C. Fahey; Keri Finlay; Janice Fletcher; Leah E. Frajman; Ann E. Frazier; Velimir Gayevskiy; Roula Ghaoui; Himanshu Goel; Ilias Goranitis; Matilda Haas; Daniella H. Hock; Denise Howting; Matilda R. Jackson; Maina P. Kava; Madonna Kemp; Sarah King-Smith; Nicole J. Lake; Phillipa J. Lamont; Joy Lee; Janet C. Long; Mandi MacShane; Evanthia O. Madelli; Ellenore M. Martin; Justine E. Marum; Tessa Mattiske; Jim McGill; Alejandro Metke; Sean Murray; Julie Panetta; Liza K. Phillips; Michael C.J. Quinn; Michael T. Ryan; Sarah Schenscher; Cas Simons; Nicholas Smith; David A. Stroud; Michel C. Tchan; Melanie Tom; Mathew Wallis; Tyson L. Ware; AnneMarie E. Welch; Christine Wools; You Wu; John Christodoulou; David R. Thorburn
Genetics in Medicine. 27:101271
Academic Journal
Alicia B. Byrne; Peer Arts; Thuong T. Ha; Karin S. Kassahn; Lynn S. Pais; Anne O’Donnell-Luria; François Aguet; Harindra M. Arachchi; Christina A. Austin-Tse; Larry Babb; Samantha M. Baxter; Harrison Brand; Jaime Chang; Katherine R. Chao; Ryan L. Collins; Beryl Cummings; Kayla Delano; Stephanie P. DiTroia; Eleina England; Emily Evangelista; Selin Everett; Laurent C. Francioli; Jack Fu; Vijay S. Ganesh; Kiran V. Garimella; Laura D. Gauthier; Julia K. Goodrich; Sanna Gudmundsson; Stacey J. Hall; Yongqing Huang; Steve Jahl; Kristen M. Laricchia; Kathryn E. Larkin; Monkol Lek; Gabrielle Lemire; Rachel B. Lipson; Alysia Kern Lovgren; Daniel G. MacArthur; Brian E. Mangilog; Stacy Mano; Jamie L. Marshall; Thomas E. Mullen; Kevin K. Nguyen; Emily O’Heir; Melanie C. O’Leary; Ikeoluwa A. Osei-Owusu; Jorge Perez de Acha Chavez; Emma Pierce-Hoffman; Heidi L. Rehm; Jillian Serrano; Moriel Singer-Berk; Hana Snow; Matthew Solomonson; Rachel G. Son; Abigail Sveden; Michael Talkowski; Grace Tiao; Miriam S. Udler; Zaheer Valivullah; Elise Valkanas; Grace E. VanNoy; Qingbo S. Wang; Nicholas A. Watts; Ben Weisburd; Clara E. Williamson; Michael W. Wilson; Lauren Witzgall; Monica H. Wojcik; Isaac Wong; Jordan C. Wood; Shifa Zhang; Milena Babic; Mahalia S. B. Frank; Jinghua Feng; Paul Wang; David M. Lawrence; Leila Eshraghi; Luis Arriola; John Toubia; Hung Nguyen; Disna Abeysuriya; Lesley C. Ades; David J. Amor; Susan Arbuckle; Madhura Bakshi; Bligh Berry; Tiffany Boughtwood; Adam Bournazos; Alessandra Bray; Fiona Chan; Yuen Chan; Clara Chung; Jonathan Clark; Jackie Collett; Alison Colley; Felicity Collins; Sandra Cooper; Mark A. Corbett; Jane E. Dahlstrom; Peter Dargaville; Janene Davies; Tenielle Davis; Jarrad Dearman; Jayanthi Dissanayake; Julia Dobbins; Helen Doyle; Andrew Dubowsky; Matt Edwards; Lisa J. Ewans; Mitali Fadia; Andrew Fennell; Keri Finlay; Andrew French; Kathryn Friend; Alison E. Gardner; Jozef Gecz; Nicole Graf; Eric A. Haan; Georgina Hollingsworth; Ari E. Horton; Denise Howting; Matthew F. Hunter; Gareth Jevon; Benjamin Kamien; Debra Kennedy; T. Yee Khong; Michael Krivanek; Thessa Kroes; Emma I. Krzesinski; Edward Kwan; Stephanie Lau; Shannon LeBlanc; Jan Liebelt; Suzanna Lindsey-Temple; Christine K. C. Loo; Julia Low; Amali Mallawaarachchi; Admire Matsika; Tessa Mattiske; Julie McGaughran; Lesley McGregor; Namita Mittal; Ali Moghimi; Lynette Moore; Hatice Mutlu Albayrak; Jessica Ng; Jillian Nicholl; Nicholas Pachter; John Papadimitriou; Renae Parker; Sarah Parsons; Chirag Patel; Rhonda Pawlowski; Luis A. Perez-Jurado; Jason R. Pinner; Katerina Politis; Cathryn Poulton; Theresa Power; Michael Quinn; Sulekha Rajagopalan; Matthew Regan; Jonathan Rodgers; Steuart Rorke; Rani Sachdev; Suzanne Sallevelt; Sarah A. Sandaradura; Maryam Shamassi; Roshan Shamon; Isabella Sherburn; Jennie Slee; Annalisa Solinas; Ella Sugo; Elizabeth Thompson; Sagarika Tripathy; Anand Vasudevan; Melisa Vazquez; Kunal Verma; Mthulisi Viki; Mathew Wallis; Dani L. Webber; Martin Weber; Karen Whale; Meredith Wilson; Lisa Worgan; Sui Yu; George McGillivray; Jason Pinner; Fiona McKenzie; Rebecca Morrow; Jill Lipsett; Nick Manton; Jan E. Liebelt; Andreas W. Schreiber; Sarah L. King-Smith; Tristan S. E. Hardy; Matilda R. Jackson; Christopher P. Barnett; Hamish S. Scott
Nature Medicine. 30:302-302
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