학술논문
'학술논문'
에서 검색결과 134건 | 목록
20~30
Academic Journal
Nevin, Suzanne M; Wakefield, Claire E; Barlow‐Stewart, Kristine; McGill, Brittany C; Bye, Ann; Palmer, Elizabeth E; Dale, Russell C; Gill, Deepak; Kothur, Kavitha; Boggs, Kirsten; Le Marne, Fleur; Beavis, Erin; Macintosh, Rebecca; Sachdev, Rani
Academic Journal
Bye, Ann ME; Le Marne, Fleur A; Beavis, Erin; Macintosh, Rebecca; Nevin, Suzanne M; Palmer, Elizabeth E; Sachdev, Rani; Nunn, Kenneth
Academic Journal
Wojcik, Monica H.; Srivastava, Siddharth; Agrawal, Pankaj B.; Balci, Tugce B.; Callewaert, Bert; Calvo, Pier Luigi; Carli, Diana; Caudle, Michelle; Colaiacovo, Samantha; Cross, Laura; Demetriou, Kalliope; Drazba, Katy; Dutra-Clarke, Marina; Edwards, Matthew; Genetti, Casie A.; Grange, Dorothy K.; Hickey, Scott E.; Isidor, Bertrand; Kuery, Sebastien; Lachman, Herbert M.; Lavillaureix, Alinoe; Lyons, Michael J.; Marcelis, Carlo; Marco, Elysa J.; Martinez-Agosto, Julian A.; Nowak, Catherine; Pizzol, Antonio; Planes, Marc; Prijoles, Eloise J.; Riberi, Evelise; Rush, Eric T.; Russell, Bianca E.; Sachdev, Rani; Schmalz, Betsy; Shears, Deborah; Stevenson, David A.; Wilson, Kate; Jansen, Sandra; de Vries, Bert B. A.; Curry, Cynthia J.
Periodical
Shimada, Shino; Ng, Bobby G; White, Amy L; Nickander, Kim K; Turgeon, Coleman; Liedtke, Kristen L; Lam, Christina T; Font-Montgomery, Esperanza; Lourenco, Charles M; He, Miao; Peck, Dawn S; Umana, Luis A; Uhles, Crescenda L; Haynes, Devon; Wheeler, Patricia G; Bamshad, Michael J; Nickerson, Deborah A; Cushing, Tom; Gates, Ryan; Gomez-Ospina, Natalia; Byers, Heather M; Scalco, Fernanda B; Martinez, Noelia N; Sachdev, Rani; Smith, Lacey; Poduri, Annapurna; Malone, Stephen; Harris, Rebekah V; Scheffer, Ingrid E; Rosenzweig, Sergio D; Adams, David R; Gahl, William A; Malicdan, May Christine V; Raymond, Kimiyo M; Freeze, Hudson H; Wolfe, Lynne A
Journal of Medical Genetics (JMG); 2022, Vol. 59 Issue: 11 p1104-1115, 12p
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
Byrne, Alicia B.; Arts, Peer; Ha, Thuong T.; Kassahn, Karin S.; Pais, Lynn S.; O'Donnell-Luria, Anne; Babic, Milena; Frank, Mahalia S. B.; Feng, Jinghua; Wang, Paul; Lawrence, David M.; Eshraghi, Leila; Arriola, Luis; Toubia, John; Nguyen, Hung; McGillivray, George; Pinner, Jason; McKenzie, Fiona; Morrow, Rebecca; Lipsett, Jill; Manton, Nick; Khong, T. Yee; Moore, Lynette; Liebelt, Jan E.; Schreiber, Andreas W.; King-Smith, Sarah L.; Hardy, Tristan S. E.; Jackson, Matilda R.; Barnett, Christopher P.; Scott, Hamish S.; Aguet, Francois; Arachchi, Harindra M.; Austin-Tse, Christina A.; Babb, Larry; Baxter, Samantha M.; Brand, Harrison; Chang, Jaime; Chao, Katherine R.; Collins, Ryan L.; Cummings, Beryl; Delano, Kayla; DiTroia, Stephanie P.; England, Eleina; Evangelista, Emily; Everett, Selin; Francioli, Laurent C.; Fu, Jack; Ganesh, Vijay S.; Garimella, Kiran, V; Gauthier, Laura D.; Goodrich, Julia K.; Gudmundsson, Sanna; Hall, Stacey J.; Huang, Yongqing; Jahl, Steve; Laricchia, Kristen M.; Larkin, Kathryn E.; Lek, Monkol; Lemire, Gabrielle; Lipson, Rachel B.; Lovgren, Alysia Kern; MacArthur, Daniel G.; Mangilog, Brian E.; Mano, Stacy; Marshall, Jamie L.; Mullen, Thomas E.; Nguyen, Kevin K.; O'Heir, Emily; O'Leary, Melanie C.; Osei-Owusu, Ikeoluwa A.; Chavez, Jorge Perez de Acha; Pierce-Hoffman, Emma; Rehm, Heidi L.; Serrano, Milan; Singer-Berk, Moriel; Snow, Hana; Solomonson, Matthew; Son, Rachel G.; Sveden, Abigail; Talkowski, Michael; Tiao, Grace; Udler, Miriam S.; Valivullah, Zaheer; Valkanas, Elise; VanNoy, Grace E.; Wang, Qingbo S.; Watts, Nicholas A.; Weisburd, Ben; Williamson, Clara E.; Wilson, Michael W.; Witzgall, Lauren; Wojcik, Monica H.; Wong, Isaac; Wood, Jordan C.; Zhang, Shifa; Abeysuriya, Disna; Ades, Lesley C.; Amor, David J.; Arbuckle, Susan; Bakshi, Madhura; Barnete, Christopher P.; Berry, Bligh; Boughtwood, Tiffany; Bournazos, Adam; Bray, Alessandra; Chan, Fiona; Chan, Yuen; Chung, Clara; Clark, Jonathan; Collett, Jackie; Colley, Alison; Collins, Felicity; Cooper, Sandra; Corbett, Mark A.; Dahlstrom, Jane E.; Dargaville, Peter; Davies, Janene; Davis, Tenielle; Dearman, Jarrad; Dissanayake, Jayanthi; Dobbins, Julia; Doyle, Helen; Dubowsky, Andrew; Edwards, Matt; Ewans, Lisa J.; Fadia, Mitali; Fennell, Andrew; Finlay, Ken; French, Andrew; Friend, Kathryn; Gardner, Alison E.; Gecz, Jozef; Graf, Nicole; Haan, Eric A.; Hollingsworth, Georgina; Horton, Ari E.; Howting, Denise; Hunter, Matthew F.; Jevon, Gareth; Kamien, Benjamin; Kennedy, Debra; Krivanek, Michael; Kroes, Thessa; Krzesinski, Emma, I; Kwan, Edward; Lau, Stephanie; LeBlanc, Shannon; Liebelt, Jan; Lindsey-Temple, Suzanna; Loo, Christine K. C.; Low, Julia; Mallawaarachchi, Amali; Matsika, Admire; Mattiske, Tessa; McGaughran, Julie; McGregor, Lesley; Mittal, Namita; Moghimi, Ali; Albayrak, Hatice Mutlu; Ng, Jessica; Nicholl, Jillian; Pachter, Nicholas; Papadimitriou, John; Parker, Renae; Parsons, Sarah; Patel, Chirag; Pawlowski, Rhonda; Perez-Jurado, Luis A.; Pinner, Jason R.; Politis, Katerina; Poulton, Cathryn; Power, Theresa; Quinn, Michael; Rajagopalan, Sulekha; Regan, Matthew; Rodgers, Jonathan; Rorke, Steuart; Sachdev, Rani; Sallevelt, Suzanne; Sandaradura, Sarah A.; Shamassi, Maryam; Shamon, Roshan; Sherburn, Isabella; Slee, Ennie; Solinas, Annalisa; Sugo, Ella; Thompson, Elizabeth; Tripathy, Sagarika; Vasudevan, Anand; Vazquez, Melisa; Verma, Kunal; Viki, Mthulisi; Wallis, Mathew; Webber, Dani L.; Weber, Martin; Whale, Karen; Wilson, Meredith; Worgan, Lisa; Yu, Sui; Brd Inst Ctr Mendelian Genomics; Genomic Autopsy Study Res Network
Academic Journal
Sachdev, Rani; Field, Mike; Baynam, Gareth S; Beilby, John; Berarducci, Maria; Berman, Yemima; Boughtwood, Tiffany; Cusack, Marie B; Fitzgerald, Vanessa; Fletcher, Jeffery; Freckmann, Mary‐Louise; Grainger, Natalie; Kirk, Edwin; Lundie, Ben; Lunke, Sebastian; McGregor, Lesley; Mowat, David; Parasivam, Gayathri; Tyrell, Vanessa; Wallis, Mathew
Periodical
Tremblay-Laganière, Camille; Maroofian, Reza; Nguyen, Thi Tuyet Mai; Karimiani, Ehsan Ghayoor; Kirmani, Salman; Akbar, Fizza; Ibrahim, Shahnaz; Afroze, Bushra; Doosti, Mohammad; Ashrafzadeh, Farah; Babaei, Meisam; Efthymiou, Stephanie; Christoforou, Marilena; Sultan, Tipu; Ladda, Roger L.; McLaughlin, Heather M.; Truty, Rebecca; Mahida, Sonal; Cohen, Julie S.; Baranano, Kristin; Ismail, Fatima Y.; Patel, Millan S.; Lehman, Anna; Edmondson, Andrew C.; Nagy, Amanda; Walker, Melissa A.; Mercimek-Andrews, Saadet; Maki, Yuta; Sachdev, Rani; Macintosh, Rebecca; Palmer, Elizabeth E.; Mancini, Grazia M.S.; Barakat, Tahsin Stefan; Steinfeld, Robert; Rüsch, Christina T.; Stettner, Georg M.; Wagner, Matias; Wortmann, Saskia B.; Kini, Usha; Brady, Angela F.; Stals, Karen L.; Ismayilova, Naila; Ellard, Sian; Bernardo, Danilo; Nugent, Kimberly; McLean, Scott D.; Antonarakis, Stylianos E.; Houlden, Henry; Kinoshita, Taroh; Campeau, Philippe M.; Murakami, Yoshiko
Genetics in Medicine; October 2021, Vol. 23 Issue: 10 p1873-1881, 9p
Academic Journal
Palmer, Elizabeth Emma; Sachdev, Rani; Macintosh, Rebecca; Melo, Uirá Souto; Mundlos, Stefan; Righetti, Sarah; Kandula, Tejaswi; Minoche, Andre E.; Puttick, Clare; Gayevskiy, Velimir; Hesson, Luke; Idrisoglu, Senel; Shoubridge, Cheryl; Ngoc Thai, Monica Hong; Davis, Ryan L.; Drew, Alexander P.; Sampaio, Hugo; Andrews, Peter Ian; Lawson, John; Cardamone, Michael
Neurology; 3/30/2021, Vol. 96 Issue 13, pe1770-e1782, 13p
Periodical
Sundercombe, Samantha Leigh; Berbic, Marina; Evans, Carey-Anne; Cliffe, Corrina; Elakis, George; Temple, Suzanna E.L.; Selvanathan, Arthavan; Ewans, Lisa; Quayum, Nila; Nixon, Cheng-Yee; Dias, Kerith-Rae; Lang, Sarah; Richards, Anna; Goh, Shuxiang; Wilson, Meredith; Mowat, David; Sachdev, Rani; Sandaradura, Sarah; Walsh, Maie; Farrar, Michelle A.; Walsh, Rebecca; Fletcher, Janice; Kirk, Edwin P.; Teunisse, Guus M.; Schofield, Deborah; Buckley, Michael Francis; Zhu, Ying; Roscioli, Tony
The Journal of Molecular Diagnostics; July 2021, Vol. 23 Issue: 7 p894-905, 12p
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