학술논문
'학술논문'
에서 검색결과 83건 | 목록
1~10
Academic Journal
Mordaunt, Dylan A.; Gonzalez, Francisco Santos; Lunke, Sebastian; Eggers, Stefanie; Sadedin, Simon; Chong, Belinda; Dalziel, Kim; Stark, Zornitza; Goranitis, Ilias
In Genetics in Medicine April 2024 26(4)
Academic Journal
Frazier, Ann E.; Compton, Alison G.; Kishita, Yoshihito; Hock, Daniella H.; Welch, AnneMarie E.; Amarasekera, Sumudu S.C.; Rius, Rocio; Formosa, Luke E.; Imai-Okazaki, Atsuko; Francis, David; Wang, Min; Lake, Nicole J.; Tregoning, Simone; Jabbari, Jafar S.; Lucattini, Alexis; Nitta, Kazuhiro R.; Ohtake, Akira; Murayama, Kei; Amor, David J.; McGillivray, George; Wong, Flora Y.; van der Knaap, Marjo S.; Vermeulen, R. Jeroen; Wiltshire, Esko J.; Fletcher, Janice M.; Lewis, Barry; Baynam, Gareth; Ellaway, Carolyn; Balasubramaniam, Shanti; Bhattacharya, Kaustuv; Freckmann, Mary-Louise; Arbuckle, Susan; Rodriguez, Michael; Taft, Ryan J.; Sadedin, Simon; Cowley, Mark J.; Minoche, André E.; Calvo, Sarah E.; Mootha, Vamsi K.; Ryan, Michael T.; Okazaki, Yasushi; Stroud, David A.; Simons, Cas; Christodoulou, John; Thorburn, David R.
In Med 15 January 2021 2(1):49-73
Academic Journal
Felmingham, Ben; Collier, Lane; Stenta, Tayla; Halman, Andreas; Sadedin, Simon; Moore, Claire; Elliott, David; Conyers, Rachel
In Pathology February 2023 55 Supplement 1:S17-S18
Academic Journal
Lunke, Sebastian; Bouffler, Sophie E.; Patel, Chirag V.; Sandaradura, Sarah A.; Wilson, Meredith; Pinner, Jason; Hunter, Matthew F.; Barnett, Christopher P.; Wallis, Mathew; Kamien, Benjamin; Tan, Tiong Y.; Freckmann, Mary-Louise; Chong, Belinda; Phelan, Dean; Francis, David; Kassahn, Karin S.; Ha, Thuong; Gao, Song; Arts, Peer; Jackson, Matilda R.; Scott, Hamish S.; Eggers, Stefanie; Rowley, Simone; Boggs, Kirsten; Rakonjac, Ana; Brett, Gemma R.; de Silva, Michelle G.; Springer, Amanda; Ward, Michelle; Stallard, Kirsty; Simons, Cas; Conway, Thomas; Halman, Andreas; Van Bergen, Nicole J.; Sikora, Tim; Semcesen, Liana N.; Stroud, David A.; Compton, Alison G.; Thorburn, David R.; Bell, Katrina M.; Sadedin, Simon; North, Kathryn N.; Christodoulou, John; Stark, Zornitza
Nature Medicine. 29(7):1681-1691
Academic Journal
European Journal of Human Genetics. 31(4):371-374
Academic Journal
Cloney, Thomas; Gallacher, Lyndon; Pais, Lynn S.; Tan, Natalie B.; Yeung, Alison; Stark, Zornitza; Brown, Natasha J.; McGillivray, George; Delatycki, Martin B.; de Silva, Michelle G.; Downie, Lilian; Stutterd, Chloe A.; Elliott, Justine; Compton, Alison G.; Lovgren, Alysia; Oertel, Ralph; Francis, David; Bell, Katrina M.; Sadedin, Simon; Lim, Sze Chern
Journal of Medical Genetics; Aug2022, Vol. 59 Issue 8, p748-758, 11p
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.; Ades, Lesley C.; 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
JAMA, The Journal of the American Medical Association. June 23, 2020, Vol. 323 Issue 24, p2503, 9 p.
Academic Journal
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; Huong Le; 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.; James, U.; 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.; Shariant Consortium
Academic Journal
Stephenson, Sarah E.M.; Costain, Gregory; Blok, Laura E.R.; Silk, Michael A.; Nguyen, Thanh Binh; Dong, Xiaomin; Alhuzaimi, Dana E.; Dowling, James J.; Walker, Susan; Amburgey, Kimberly; Hayeems, Robin Z.; Rodan, Lance H.; Schwartz, Marc A.; Picker, Jonathan; Lynch, Sally A.; Gupta, Aditi; Rasmussen, Kristen J.; Schimmenti, Lisa A.; Klee, Eric W.; Niu, Zhiyv; Agre, Katherine E.; Chilton, Ilana; Chung, Wendy K.; Revah-Politi, Anya; Au, P.Y. Billie; Griffith, Christopher; Racobaldo, Melissa; Raas-Rothschild, Annick; Ben Zeev, Bruria; Barel, Ortal; Moutton, Sebastien; Morice-Picard, Fanny; Carmignac, Virginie; Cornaton, Jenny; Marle, Nathalie; Devinsky, Orrin; Stimach, Chandler; Wechsler, Stephanie Burns; Hainline, Bryan E.; Sapp, Katie; Willems, Marjolaine; Bruel, Ange-line; Dias, Kerith-Rae; Evans, Carey-Anne; Roscioli, Tony; Sachdev, Rani; Temple, Suzanna E.L.; Zhu, Ying; Baker, Joshua J.; Scheffer, Ingrid E.; Gardiner, Fiona J.; Schneider, Amy L.; Muir, Alison M.; Mefford, Heather C.; Crunk, Amy; Heise, Elizabeth M.; Millan, Francisca; Monaghan, Kristin G.; Person, Richard; Rhodes, Lindsay; Richards, Sarah; Wentzensen, Ingrid M.; Cogné, Benjamin; Isidor, Bertrand; Nizon, Mathilde; Vincent, Marie; Besnard, Thomas; Piton, Amelie; Marcelis, Carlo; Kato, Kohji; Koyama, Norihisa; Ogi, Tomoo; Goh, Elaine Suk-Ying; Richmond, Christopher; Amor, David J.; Boyce, Jessica O.; Morgan, Angela T.; Hildebrand, Michael S.; Kaspi, Antony; Bahlo, Melanie; Friðriksdóttir, Rún; Katrínardóttir, Hildigunnur; Sulem, Patrick; Stefánsson, Kári; Björnsson, Hans Tómas; Mandelstam, Simone; Morleo, Manuela; Mariani, Milena; Scala, Marcello; Accogli, Andrea; Torella, Annalaura; Capra, Valeria; Wallis, Mathew; Jansen, Sandra; Waisfisz, Quinten; de Haan, Hugoline; Sadedin, Simon; Lim, Sze Chern; White, Susan M.; Ascher, David B.; Schenck, Annette; Lockhart, Paul J.; Christodoulou, John; Tan, Tiong Yang
American Journal of Human Genetics. April 7, 2022, Vol. 109 Issue 4, 601
Academic Journal
Sleiman, Sophie; Marshall, Aren E; Dong, Xiaomin; Mhanni, Aziz; Alidou-D'Anjou, Ismaël; Frosk, Patrick; Marin, Samantha E; Stark, Zornitza; Bigio, Marc R Del; McBride, Arran; Sadedin, Simon; Gallacher, Lyndon; Consortium, Care4Rare Canada; Christodoulou, John; Boycott, Kym M; Dragon, François; Kernohan, Kristin D
Human Molecular Genetics; 2/15/2022, Vol. 31 Issue 4, p614-624, 11p
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