학술논문
'학술논문'
에서 검색결과 73건 | 목록
1~10
Academic Journal
Advances in Clinical Neuroscience & Rehabilitation, Vol 19, Iss 3, Pp 17-20 (2020)
Academic Journal
Bryen, Samantha J.; Joshi, Himanshu; Evesson, Frances J.; Girard, Cyrille; Ghaoui, Roula; Waddell, Leigh B.; Testa, Alison C.; Cummings, Beryl; Arbuckle, Susan; Graf, Nicole; Webster, Richard; MacArthur, Daniel G.; Laing, Nigel G.; Davis, Mark R.; Lührmann, Reinhard; Cooper, Sandra T.
In The American Journal of Human Genetics 5 September 2019 105(3):573-587
Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone.
Academic Journal
Marchant, Rhett G.; Bryen, Samantha J.; Bahlo, Melanie; Cairns, Anita; Chao, Katherine R.; Corbett, Alastair; Davis, Mark R.; Ganesh, Vijay S.; Ghaoui, Roula; Jones, Kristi J.; Kornberg, Andrew J.; Lek, Monkol; Liang, Christina; MacArthur, Daniel G.; Oates, Emily C.; O'Donnell‐Luria, Anne; O'Grady, Gina L.; Osei‐Owusu, Ikeoluwa A.; Rafehi, Haloom; Reddel, Stephen W.
Academic Journal
Scriba, Carolin K.; Stevanovski, Igor; Chintalaphani, Sanjog R.; Gamaarachchi, Hasindu; Ghaoui, Roula; Ghia, Darshan; Henderson, Robert D.; Jordan, Nerissa; Winkel, Antony; Lamont, Phillipa J.; Rodrigues, Miriam J.; Roxburgh, Richard H.; Weisburd, Ben; Laing, Nigel G.; Deveson, Ira W.; Davis, Mark R.; Ravenscroft, Gianina
Brain Communications; 2023, Vol. 5 Issue 4, p1-14, 14p
Academic Journal
Ghaoui, Roula; Ha, Thuong T.; Kerkhof, Jennifer; McConkey, Haley; Gao, Song; Babic, Milena; King, Rob; Ravenscroft, Gianina; Koszyca, Barbara; Otto, Sophia; Laing, Nigel G.; Scott, Hamish; Sadikovic, Bekim; Kassahn, Karin S.
Academic Journal
Sue, Carolyn M.; Balasubramaniam, Shanti; Bratkovic, Drago; Bonifant, Catherine; Christodoulou, John; Coman, David; Crawley, Karen; Edema‐Hildebrand, Fabienne; Ellaway, Carolyn; Ghaoui, Roula; Kava, Maina; Kearns, Lisa S.; Lee, Joy; Liang, Christina; Mackey, David A.; Murray, Sean; Needham, Merrilee; Rius, Rocio; Russell, Jacqui; Smith, Nicholas J.C.
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
JAMA Neurology; Aug2023, Vol. 80 Issue 8, p868-869, 2p
Academic Journal
Mroczek, Magdalena; Durmus, Hacer; Bijarnia-Mahay, Sunita; Töpf, Ana; Ghaoui, Roula; Bryen, Samantha; Duff, Jennifer; England, Eleina; Cooper, Sandra T.; MacArthur, Daniel G.; Straub, Volker
Ghaoui, Roula ; Benavides, Tatiana; Lek, Monkol; Waddell, Leigh B.; Kaur, Simranpreet; North, Kathryn N.; MacArthur, Daniel G.; Clarke, Nigel F.; Cooper, Sandra T.
In Neuromuscular Disorders August 2016 26(8):500-503
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