학술논문
'학술논문'
에서 검색결과 58건 | 목록
1~10
Academic Journal
Pandithan, Dinusha; Klebe, Sonja; McKavanagh, Grace; Rawlings, Lesley; Yu, Sui; Nicholl, Jillian; Poplawski, Nicola
Academic Journal
Souzeau, Emmanuelle; Siggs, Owen M.; Mullany, Sean; Schmidt, Joshua M.; Hassall, Mark M.; Dubowsky, Andrew; Chappell, Angela; Breen, James; Bae, Haae; Nicholl, Jillian; Hadler, Johanna; Kearns, Lisa S.; Staffieri, Sandra E.; Hewitt, Alex W.; Mackey, David A.; Gupta, Aanchal; Burdon, Kathryn P.; Klebe, Sonja; Craig, Jamie E.; Mills, Richard A.
Review of 12 months of copy number variant calling on a clinical next generation sequencing pipeline
Academic Journal
Mordaunt, Dylan A.; Soubrier, Julien; Gao, Song; Rawlings, Lesley; Nicholl, Jillian; Yu, Sui; Fletcher, Janice; Kassahn, Karin
In Pathology February 2020 52 Supplement 1:S108-S108
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
McMichael, Gai; Girirajan, Santhosh; Moreno-De-Luca, Andres; Gecz, Jozef; Shard, Chloe; Nguyen, Lam Son; Nicholl, Jillian; Gibson, Catherine; Haan, Eric; Eichler, Evan; Martin, Christa Lese; MacLennan, Alastair
Academic Journal
Siggs, Owen M.; Souzeau, Emmanuelle; Taranath, Deepa A.; Dubowsky, Andrew; Chappell, Angela; Zhou, Tiger; Javadiyan, Shari; Nicholl, Jillian; Kearns, Lisa S.; Staffieri, Sandra E.; Narita, Andrew; Smith, James E.H.; Pater, John; Hewitt, Alex W.; Ruddle, Jonathan B.; Elder, James E.; Mackey, David A.; Burdon, Kathryn P.; Craig, Jamie E.
Academic Journal
Kumar, Raman; Corbett, Mark A.; Van Bon, Bregje W.M.; Gardner, Alison; Woenig, Joshua A.; Jolly, Lachlan A.; Douglas, Evelyn; Friend, Kathryn; Tan, Chuan; Van Esch, Hilde; Holvoet, Maureen; Raynaud, Martine; Field, Michael; Leffler, Melanie; Budny, Bartłomiej; Wisniewska, Marzena; Badura-Stronka, Magdalena; Latos-Bieleńska, Anna; Batanian, Jacqueline; Rosenfeld, Jill A.; Basel-Vanagaite, Lina; Jensen, Corinna; Bienek, Melanie; Froyen, Guy; Ullmann, Reinhard; Hu, Hao; Love, Michael I.; Haas, Stefan A.; Stankiewicz, Pawel; Cheung, Sau Wai; Baxendale, Anne; Nicholl, Jillian; Thompson, Elizabeth M.; Haan, Eric; Kalscheuer, Vera M.; Gecz, Jozef
Human Molecular Genetics. Dec 20, 2015 24(25):7171-7181
Academic Journal
Mucha, Bettina E.; Banka, Siddharth; Ajeawung, Norbert Fonya; Molidperee, Sirinart; Chen, Gary G.; Koenig, Mary Kay; Adejumo, Rhamat B.; Till, Marianne; Harbord, Michael; Perrier, Renee; Lemyre, Emmanuelle; Boucher, Renee-Myriam; Skotko, Brian G.; Waxler, Jessica L.; Thomas, Mary Ann; Hodge, Jennelle C.; Gecz, Jozef; Nicholl, Jillian; McGregor, Lesley; Linden, Tobias; Sisodiya, Sanjay M.; Sanlaville, Damien; Cheung, Sau W.; Ernst, Carl; Campeau, Philippe M.
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 21(5):1058-1064
Academic Journal
Mordaunt, Dylan A.; Jolley, Alexandra; Balasubramaniam, Shanti; Thorburn, David R.; Mountford, Hayley S.; Compton, Alison G.; Nicholl, Jillian; Manton, Nicholas; Clark, Damian; Bratkovic, Drago; Friend, Kathryn; Yu, Sui
American Journal Of Medical Genetics - A. Jun 01, 2015 167(6):1330-1336
Academic Journal
American Journal Of Medical Genetics - A. Jan 01, 2015 167(1):174-179
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[AR] Nicholl, Jillian
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