학술논문
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'학술논문'
에서 검색결과 177건 | 목록
1~20
Academic Journal
Berry, Jesia G. ; Taranath, Ajay ; Goetti, Robert ; Farrar, Michelle A. ; Fiori, Simona ; Pham, Huy-dat ; Mittinty, Murthy N. ; Corbett, Mark A. ; Palmer, Lyle J. ; Fornarino, Dani L. ; Harper, Kelly ; Gibson, Catherine S. ; Leishman, Shaneen J. ; Goldsmith, Shona C. ; McIntyre, Sarah J. ; Montgomerie, Alicia ; Pilkington, Rhiannon M. ; Lynch, John W. ; Russo, Remo N. ; Fahey, Michael C. ; Fripp, Jurgen ; Boyd, Roslyn N. ; Wright, Margaret J. ; Rice, James E. ; Waugh, Mary-Clare ; MacLennan, Alastair H. ; Gecz, Jozef ; van Eyk, Clare L.
In eBioMedicine December 2025 122
Academic Journal
Sandran, Nandini G. ; Fornarino, Dani L. ; Corbett, Mark A. ; Kroes, Thessa ; Gardner, Alison E. ; MacLennan, Alastair H. ; Gécz, Jozef ; van Eyk, Clare L.
In Genetics in Medicine October 2024 26(10)
Academic Journal
Azmanov, Dimitar N.; Barnett, Christopher P.; Barry, Simon C.; Baynam, Gareth; Berkovic, Samuel F.; Christodoulou, John; Coman, David J.; Cooper, Sandra; Corbett, Mark A.; Delatycki, Martin; Dudding, Tracy E.; Fletcher, Sue; Gardner, Alison E.; Gecz, Jozef; Higgins, Megan J.; Hildebrand, Michael S.; Jolly, Lachlan A.; Lister, Ryan; McGaughran, Julie; Pflueger, Christian; Poulton, Cathryn; Roscioli, Tony; Hamish S. Scott, Ingrid Scheffer; Sinclair, Andrew H.; Spurdle, Amanda B.; Tan, Tiong Y.; van Eyk, Clare L.; Voineagu, Irina; Nicolas-Martinez, Emmylou C. ; Robinson, Olivia ; Gardner, Alison ; Ritchie, Tarin ; Kroes, Thessa ; Scheffer, Ingrid E. ; Barnier, Jean-Vianney ; Rousseau, Véronique ; Genevieve, David ; Haushalter, Virginie ; Piton, Amélie ; Denommé-Pichon, Anne-Sophie ; Bruel, Ange-Line ; Nambot, Sophie ; Isidor, Bertrand ; Grigg, John ; Gonzalez, Tina ; Ghedia, Sondhya ; Marchant, Rhett G. ; Bournazos, Adam ; Wong, Wui-Kwan ; Webster, Richard I. ; Evesson, Frances J. ; Jones, Kristi J. ; Cooper, Sandra T.
In The American Journal of Human Genetics 8 August 2024 111(8):1673-1699
Academic Journal
Dias, Kerith-Rae ; Shrestha, Rupendra ; Schofield, Deborah ; Evans, Carey-Anne ; O’Heir, Emily ; Zhu, Ying ; Zhang, Futao ; Standen, Krystle ; Weisburd, Ben ; Stenton, Sarah L. ; Sanchis-Juan, Alba ; Brand, Harrison ; Talkowski, Michael E. ; Ma, Alan ; Ghedia, Sondy ; Wilson, Meredith ; Sandaradura, Sarah A. ; Smith, Janine ; Kamien, Benjamin ; Turner, Anne ; Bakshi, Madhura ; Adès, Lesley C. ; Mowat, David ; Regan, Matthew ; McGillivray, George ; Savarirayan, Ravi ; White, Susan M. ; Tan, Tiong Yang ; Stark, Zornitza ; Brown, Natasha J. ; Pérez-Jurado, Luis A. ; Krzesinski, Emma ; Hunter, Matthew F. ; Akesson, Lauren ; Fennell, Andrew Paul ; Yeung, Alison ; Boughtwood, Tiffany ; Ewans, Lisa J. ; Kerkhof, Jennifer ; Lucas, Christopher ; Carey, Louise ; French, Hugh ; Rapadas, Melissa ; Stevanovski, Igor ; Deveson, Ira W. ; Cliffe, Corrina ; Elakis, George ; Kirk, Edwin P. ; Dudding-Byth, Tracy ; Fletcher, Janice ; Walsh, Rebecca ; Corbett, Mark A. ; Kroes, Thessa ; Gecz, Jozef ; Meldrum, Cliff ; Cliffe, Simon ; Wall, Meg ; Lunke, Sebastian ; North, Kathryn ; Amor, David J. ; Field, Michael ; Sadikovic, Bekim ; Buckley, Michael F. ; O’Donnell-Luria, Anne ; Roscioli, Tony
In Genetics in Medicine May 2024 26(5)
Academic Journal
Shepherdson, James L. ; Hutchison, Katie ; Don, Dilan Wellalage ; McGillivray, George ; Choi, Tae-Ik ; Allan, Carolyn A. ; Amor, David J. ; Banka, Siddharth ; Basel, Donald G. ; Buch, Laura D. ; Carere, Deanna Alexis ; Carroll, Renée ; Clayton-Smith, Jill ; Crawford, Ali ; Dunø, Morten ; Faivre, Laurence ; Gilfillan, Christopher P. ; Gold, Nina B. ; Gripp, Karen W. ; Hobson, Emma ; Holtz, Alexander M. ; Innes, A. Micheil ; Isidor, Bertrand ; Jackson, Adam ; Katsonis, Panagiotis ; Amel Riazat Kesh, Leila ; Küry, Sébastien ; Lecoquierre, François ; Lockhart, Paul ; Maraval, Julien ; Matsumoto, Naomichi ; McCarrier, Julie ; McCarthy, Josephine ; Miyake, Noriko ; Moey, Lip Hen ; Németh, Andrea H. ; Østergaard, Elsebet ; Patel, Rushina ; Pope, Kate ; Posey, Jennifer E. ; Schnur, Rhonda E. ; Shaw, Marie ; Stolerman, Elliot ; Taylor, Julie P. ; Wadman, Erin ; Wakeling, Emma ; White, Susan M. ; Wong, Lawrence C. ; Lupski, James R. ; Lichtarge, Olivier ; Corbett, Mark A. ; Gecz, Jozef ; Nicolet, Charles M. ; Farnham, Peggy J. ; Kim, Cheol-Hee ; Shinawi, Marwan
In The American Journal of Human Genetics 7 March 2024 111(3):487-508
Academic Journal
Kayumi, Sayaka ; Pérez-Jurado, Luis A. ; Palomares, María ; Rangu, Sneha ; Sheppard, Sarah E. ; Chung, Wendy K. ; Kruer, Michael C. ; Kharbanda, Mira ; Amor, David J. ; McGillivray, George ; Cohen, Julie S. ; García-Miñaúr, Sixto ; van Eyk, Clare L. ; Harper, Kelly ; Jolly, Lachlan A. ; Webber, Dani L. ; Barnett, Christopher P. ; Santos-Simarro, Fernando ; Pacio-Míguez, Marta ; Pozo, Angela del ; Bakhtiari, Somayeh ; Deardorff, Matthew ; Dubbs, Holly A. ; Izumi, Kosuke ; Grand, Katheryn ; Gray, Christopher ; Mark, Paul R. ; Bhoj, Elizabeth J. ; Li, Dong ; Ortiz-Gonzalez, Xilma R. ; Keena, Beth ; Zackai, Elaine H. ; Goldberg, Ethan M. ; Perez de Nanclares, Guiomar ; Pereda, Arrate ; Llano-Rivas, Isabel ; Arroyo, Ignacio ; Fernández-Cuesta, María Ángeles ; Thauvin-Robinet, Christel ; Faivre, Laurence ; Garde, Aurore ; Mazel, Benoit ; Bruel, Ange-Line ; Tress, Michael L. ; Brilstra, Eva ; Fine, Amena Smith ; Crompton, Kylie E. ; Stegmann, Alexander P.A. ; Sinnema, Margje ; Stevens, Servi C.J. ; Nicolai, Joost ; Lesca, Gaetan ; Lion-François, Laurence ; Haye, Damien ; Chatron, Nicolas ; Piton, Amelie ; Nizon, Mathilde ; Cogne, Benjamin ; Srivastava, Siddharth ; Bassetti, Jennifer ; Muss, Candace ; Gripp, Karen W. ; Procopio, Rebecca A. ; Millan, Francisca ; Morrow, Michelle M. ; Assaf, Melissa ; Moreno-De-Luca, Andres ; Joss, Shelagh ; Hamilton, Mark J. ; Bertoli, Marta ; Foulds, Nicola ; McKee, Shane ; MacLennan, Alastair H. ; Gecz, Jozef ; Corbett, Mark A.
In Genetics in Medicine November 2022 24(11):2351-2366
Academic Journal
Kuot, Abraham ; Corbett, Mark A. ; Mills, Richard A. ; Snibson, Grant ; Wiffen, Steven ; Loh, Raymond ; Burdon, Kathryn P. ; Craig, Jamie E. ; Sharma, Shiwani
In Experimental Eye Research September 2021 210
Academic Journal
Gan, Linhua ; Sun, Jingjing ; Yang, Shuo ; Zhang, Xiaocui ; Chen, Wu ; Sun, Yiyu ; Wu, Xiaohua ; Cheng, Cheng ; Yuan, Jing ; Li, Anan ; Corbett, Mark A. ; Dixon, Mathew P. ; Thomas, Tim ; Voss, Anne K. ; Gécz, Jozef ; Wang, Guang-Zhong ; Bonni, Azad ; Li, Qian ; Huang, Ju
In Cell Reports 17 March 2020 30(11):3717-3728
Academic Journal
McRae, Helen M. ; Garnham, Alexandra L. ; Hu, Yifang ; Witkowski, Matthew T. ; Corbett, Mark A. ; Dixon, Mathew P. ; May, Rose E. ; Sheikh, Bilal N. ; Chiang, William ; Kueh, Andrew J. ; Nguyen, Tan A. ; Man, Kevin ; Gloury, Renee ; Aubrey, Brandon J. ; Policheni, Antonia ; Di Rago, Ladina ; Alexander, Warren S. ; Gray, Daniel H.D. ; Strasser, Andreas ; Hawkins, Edwin D. ; Wilcox, Stephen ; Gécz, Jozef ; Kallies, Axel ; McCormack, Matthew P. ; Smyth, Gordon K. ; Voss, Anne K. ; Thomas, Tim
In Blood 18 April 2019 133(16):1729-1741
Academic Journal
McRae, Helen M.; Leong, Melody P. Y.; Bergamasco, Maria I.; Garnham, Alexandra L.; Hu, Yifang; Corbett, Mark A.; Whitehead, Lachlan; El-Saafin, Farrah; Sheikh, Bilal N.; Wilcox, Stephen; Hannan, Anthony J.; Gécz, Jozef; Smyth, Gordon K.; Thomas, Tim; Voss, Anne K.
Academic Journal
Chey, Yu C. J.; Corbett, Mark A.; Arudkumar, Jayshen; Piltz, Sandra G.; Thomas, Paul Q.; Adikusuma, Fatwa
Academic Journal
Allori, Alexander; Angrist, Misha; Ashley, Patricia; Bidegain, Margarita; Boyd, Brita; Chambers, Eileen; Cope, Heidi; Cotten, C. Michael; Curington, Theresa; Davis, Erica E.; Ellestad, Sarah; Fisher, Kimberley; French, Amanda; Gallentine, William; Goldberg, Ronald; Hill, Kevin; Kansagra, Sujay; Katsanis, Nicholas; Katsanis, Sara; Kurtzberg, Joanne; Marcus, Jeffrey; McDonald, Marie; Mikati, Mohammed; Miller, Stephen; Murtha, Amy; Perilla, Yezmin; Pizoli, Carolyn; Purves, Todd; Ross, Sherry; Sadeghpour, Azita; Smith, Edward; Wiener, John; Helbig, Katherine L. ; Lauerer, Robert J. ; Bahr, Jacqueline C. ; Souza, Ivana A. ; Myers, Candace T. ; Uysal, Betül ; Schwarz, Niklas ; Gandini, Maria A. ; Huang, Sun ; Keren, Boris ; Mignot, Cyril ; Afenjar, Alexandra ; Billette de Villemeur, Thierry ; Héron, Delphine ; Nava, Caroline ; Valence, Stéphanie ; Buratti, Julien ; Fagerberg, Christina R. ; Soerensen, Kristina P. ; Kibaek, Maria ; Kamsteeg, Erik-Jan ; Koolen, David A. ; Gunning, Boudewijn ; Schelhaas, H. Jurgen ; Kruer, Michael C. ; Fox, Jordana ; Bakhtiari, Somayeh ; Jarrar, Randa ; Padilla-Lopez, Sergio ; Lindstrom, Kristin ; Jin, Sheng Chih ; Zeng, Xue ; Bilguvar, Kaya ; Papavasileiou, Antigone ; Xing, Qinghe ; Zhu, Changlian ; Boysen, Katja ; Vairo, Filippo ; Lanpher, Brendan C. ; Klee, Eric W. ; Tillema, Jan-Mendelt ; Payne, Eric T. ; Cousin, Margot A. ; Kruisselbrink, Teresa M. ; Wick, Myra J. ; Baker, Joshua ; Haan, Eric ; Smith, Nicholas ; Corbett, Mark A. ; MacLennan, Alastair H. ; Gecz, Jozef ; Biskup, Saskia ; Goldmann, Eva ; Rodan, Lance H. ; Kichula, Elizabeth ; Segal, Eric ; Jackson, Kelly E. ; Asamoah, Alexander ; Dimmock, David ; McCarrier, Julie ; Botto, Lorenzo D. ; Filloux, Francis ; Tvrdik, Tatiana ; Cascino, Gregory D. ; Klingerman, Sherry ; Neumann, Catherine ; Wang, Raymond ; Jacobsen, Jessie C. ; Nolan, Melinda A. ; Snell, Russell G. ; Lehnert, Klaus ; Sadleir, Lynette G. ; Anderlid, Britt-Marie ; Kvarnung, Malin ; Guerrini, Renzo ; Friez, Michael J. ; Lyons, Michael J. ; Leonhard, Jennifer ; Kringlen, Gabriel ; Casas, Kari ; El Achkar, Christelle M. ; Smith, Lacey A. ; Rotenberg, Alexander ; Poduri, Annapurna ; Sanchis-Juan, Alba ; Carss, Keren J. ; Rankin, Julia ; Zeman, Adam ; Raymond, F. Lucy ; Blyth, Moira ; Kerr, Bronwyn ; Ruiz, Karla ; Urquhart, Jill ; Hughes, Imelda ; Banka, Siddharth ; Hedrich, Ulrike B.S. ; Scheffer, Ingrid E. ; Helbig, Ingo ; Zamponi, Gerald W. ; Lerche, Holger ; Mefford, Heather C.
In The American Journal of Human Genetics 1 November 2018 103(5):666-678
Academic Journal
Homan, Claire C. ; Pederson, Stephen ; To, Thu-Hien ; Tan, Chuan ; Piltz, Sandra ; Corbett, Mark A. ; Wolvetang, Ernst ; Thomas, Paul Q. ; Jolly, Lachlan A. ; Gecz, Jozef
In Neurobiology of Disease August 2018 116:106-119
Academic Journal
Corbett, Mark A. ; Turner, Samantha J. ; Gardner, Alison ; Silver, Jeremy ; Stankovich, Jim ; Leventer, Richard J. ; Derry, Christopher P. ; Carroll, Renée ; Ha, Thuong ; Scheffer, Ingrid E. ; Bahlo, Melanie ; Jackson, Graeme D. ; Mackey, David A. ; Berkovic, Samuel F. ; Gecz, Jozef
In European Journal of Medical Genetics August 2017 60(8):437-443
Academic Journal
Froyen, Guy ; Belet, Stefanie ; Martinez, Francisco ; Santos-Rebouças, Cíntia Barros ; Declercq, Matthias ; Verbeeck, Jelle ; Donckers, Lene ; Berland, Siren ; Mayo, Sonia ; Rosello, Monica ; Pimentel, Márcia Mattos Gonçalves ; Fintelman-Rodrigues, Natalia ; Hovland, Randi ; Rodrigues dos Santos, Suely ; Raymond, F. Lucy ; Bose, Tulika ; Corbett, Mark A. ; Sheffield, Leslie ; van Ravenswaaij-Arts, Conny M.A. ; Dijkhuizen, Trijnie ; Coutton, Charles ; Satre, Veronique ; Siu, Victoria ; Marynen, Peter
In The American Journal of Human Genetics 10 August 2012 91(2):252-264
Academic Journal
van der Sanden, B.; Neveling, K.; Shukor, S.; Gallagher, M.D.; Lee, Joyce; Burke, S.L.; Pennings, M.; van Beek, R.; Oorsprong, M.; Kater-Baats, E.; Kamping, E.J.; Tieleman, A.A.; Voermans, N.C.; Scheffer, I.E.; Gecz, J.; Corbett, Mark A.; Vissers, L.E.L.M.; Pang, A.W.C.; Hastie, A.; Kamsteeg, E.J.; Hoischen, A.
Genome Res
Genome Research, 35, 4, pp. 810-823
Genome Research, 35, 4, pp. 810-823
Academic Journal
Bruno, Ivone G. ; Karam, Rachid ; Huang, Lulu ; Bhardwaj, Anjana ; Lou, Chih H. ; Shum, Eleen Y. ; Song, Hye-Won ; Corbett, Mark A. ; Gifford, Wesley D. ; Gecz, Jozef ; Pfaff, Samuel L. ; Wilkinson, Miles F.
In Molecular Cell 2011 42(4):500-510
Academic Journal
Richard, Elodie M. ; Bakhtiari, Somayeh ; Marsh, Ashley P.L. ; Kaiyrzhanov, Rauan ; Wagner, Matias ; Shetty, Sheetal ; Pagnozzi, Alex ; Nordlie, Sandra M. ; Guida, Brandon S. ; Cornejo, Patricia ; Magee, Helen ; Liu, James ; Norton, Bethany Y. ; Webster, Richard I. ; Worgan, Lisa ; Hakonarson, Hakon ; Li, Jiankang ; Guo, Yiran ; Jain, Mahim ; Blesson, Alyssa ; Rodan, Lance H. ; Abbott, Mary-Alice ; Comi, Anne ; Cohen, Julie S. ; Alhaddad, Bader ; Meitinger, Thomas ; Lenz, Dominic ; Ziegler, Andreas ; Kotzaeridou, Urania ; Brunet, Theresa ; Chassevent, Anna ; Smith-Hicks, Constance ; Ekstein, Joseph ; Weiden, Tzvi ; Hahn, Andreas ; Zharkinbekova, Nazira ; Turnpenny, Peter ; Tucci, Arianna ; Yelton, Melissa ; Horvath, Rita ; Gungor, Serdal ; Hiz, Semra ; Oktay, Yavuz ; Lochmuller, Hanns ; Zollino, Marcella ; Morleo, Manuela ; Marangi, Giuseppe ; Nigro, Vincenzo ; Torella, Annalaura ; Pinelli, Michele ; Amenta, Simona ; Husain, Ralf A. ; Grossmann, Benita ; Rapp, Marion ; Steen, Claudia ; Marquardt, Iris ; Grimmel, Mona ; Grasshoff, Ute ; Korenke, G. Christoph ; Owczarek-Lipska, Marta ; Neidhardt, John ; Radio, Francesca Clementina ; Mancini, Cecilia ; Claps Sepulveda, Dianela Judith ; McWalter, Kirsty ; Begtrup, Amber ; Crunk, Amy ; Guillen Sacoto, Maria J. ; Person, Richard ; Schnur, Rhonda E. ; Mancardi, Maria Margherita ; Kreuder, Florian ; Striano, Pasquale ; Zara, Federico ; Chung, Wendy K. ; Marks, Warren A. ; van Eyk, Clare L. ; Webber, Dani L. ; Corbett, Mark A. ; Harper, Kelly ; Berry, Jesia G. ; MacLennan, Alastair H. ; Gecz, Jozef ; Tartaglia, Marco ; Salpietro, Vincenzo ; Christodoulou, John ; Kaslin, Jan ; Padilla-Lopez, Sergio ; Bilguvar, Kaya ; Munchau, Alexander ; Ahmed, Zubair M. ; Hufnagel, Robert B. ; Fahey, Michael C. ; Maroofian, Reza ; Houlden, Henry ; Sticht, Heinrich ; Mane, Shrikant M. ; Rad, Aboulfazl ; Vona, Barbara ; Jin, Sheng Chih ; Haack, Tobias B. ; Makowski, Christine ; Hirsch, Yoel ; Riazuddin, Saima ; Kruer, Michael C.
In The American Journal of Human Genetics 7 October 2021 108(10):2006-2016
Maximal sprints within the warm-up does not affect pacing or performance in a 10 km cycle time trial
Academic Journal
Journal of Human Sport and Exercise. 15(2):319-329
Academic Journal
Cheng, Hanyin ; Dharmadhikari, Avinash V. ; Varland, Sylvia ; Ma, Ning ; Domingo, Deepti ; Kleyner, Robert ; Rope, Alan F. ; Yoon, Margaret ; Stray-Pedersen, Asbjørg ; Posey, Jennifer E. ; Crews, Sarah R. ; Eldomery, Mohammad K. ; Akdemir, Zeynep Coban ; Lewis, Andrea M. ; Sutton, Vernon R. ; Rosenfeld, Jill A. ; Conboy, Erin ; Agre, Katherine ; Xia, Fan ; Walkiewicz, Magdalena ; Longoni, Mauro ; High, Frances A. ; van Slegtenhorst, Marjon A. ; Mancini, Grazia M.S. ; Finnila, Candice R. ; van Haeringen, Arie ; den Hollander, Nicolette ; Ruivenkamp, Claudia ; Naidu, Sakkubai ; Mahida, Sonal ; Palmer, Elizabeth E. ; Murray, Lucinda ; Lim, Derek ; Jayakar, Parul ; Parker, Michael J. ; Giusto, Stefania ; Stracuzzi, Emanuela ; Romano, Corrado ; Beighley, Jennifer S. ; Bernier, Raphael A. ; Küry, Sébastien ; Nizon, Mathilde ; Corbett, Mark A. ; Shaw, Marie ; Gardner, Alison ; Barnett, Christopher ; Armstrong, Ruth ; Kassahn, Karin S. ; Van Dijck, Anke ; Vandeweyer, Geert ; Kleefstra, Tjitske ; Schieving, Jolanda ; Jongmans, Marjolijn J. ; de Vries, Bert B.A. ; Pfundt, Rolph ; Kerr, Bronwyn ; Rojas, Samantha K. ; Boycott, Kym M. ; Person, Richard ; Willaert, Rebecca ; Eichler, Evan E. ; Kooy, R. Frank ; Yang, Yaping ; Wu, Joseph C. ; Lupski, James R. ; Arnesen, Thomas ; Cooper, Gregory M. ; Chung, Wendy K. ; Gecz, Jozef ; Stessman, Holly A.F. ; Meng, Linyan ; Lyon, Gholson J.
In The American Journal of Human Genetics 3 May 2018 102(5):985-994
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[AR] Corbett, Mark A.
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