학술논문
'학술논문'
에서 검색결과 172건 | 목록
1~10
Academic Journal
Powis, Zöe; Espenschied, Carin R.; LaDuca, Holly; Hagman, Kelly D.; Paudyal, Tripti; Li, Shuwei; Inaba, Hiroto; Mauer, Ann; Nathanson, Katherine L.; Knost, James; Chao, Elizabeth C.; Tang, Sha
In Cancer Genetics August 2018 224-225:12-20
Academic Journal
Holt, Richard J.; Young, Rodrigo M.; Crespo, Berta; Ceroni, Fabiola; Curry, Cynthia J.; Bellacchio, Emanuele; Bax, Dorine A.; Ciolfi, Andrea; Simon, Marleen; Fagerberg, Christina R.; van Binsbergen, Ellen; De Luca, Alessandro; Memo, Luigi; Dobyns, William B.; Mohammed, Alaa Afif; Clokie, Samuel J.H.; Zazo Seco, Celia; Jiang, Yong-Hui; Sørensen, Kristina P.; Andersen, Helle; Sullivan, Jennifer; Powis, Zöe; Chassevent, Anna; Smith-Hicks, Constance; Petrovski, Slavé; Antoniadi, Thalia; Shashi, Vandana; Gelb, Bruce D.; Wilson, Stephen W.; Gerrelli, Dianne; Tartaglia, Marco; Chassaing, Nicolas; Calvas, Patrick; Ragge, Nicola K.
In The American Journal of Human Genetics 5 September 2019 105(3):640-657
Academic Journal
Sheppard, Sarah E; Campbell, Ian M; Harr, Margaret H; Gold, Nina; Li, Dong; Bjornsson, Hans T; Cohen, Julie S; Fahrner, Jill A; Fatemi, Ali; Harris, Jacqueline R; Nowak, Catherine; Stevens, Cathy A; Grand, Katheryn; Au, Margaret; Graham, John M; Sanchez‐Lara, Pedro A; Del Campo, Miguel; Jones, Marilyn C; Abdul‐Rahman, Omar; Alkuraya, Fowzan S; Bassetti, Jennifer A; Bergstrom, Katherine; Bhoj, Elizabeth; Dugan, Sarah; Kaplan, Julie D; Derar, Nada; Gripp, Karen W; Hauser, Natalie; Innes, A Micheil; Keena, Beth; Kodra, Neslida; Miller, Rebecca; Nelson, Beverly; Nowaczyk, Malgorzata J; Rahbeeni, Zuhair; Ben‐Shachar, Shay; Shieh, Joseph T; Slavotinek, Anne; Sobering, Andrew K; Abbott, Mary‐Alice; Allain, Dawn C; Amlie‐Wolf, Louise; Au, Ping Yee Billie; Bedoukian, Emma; Beek, Geoffrey; Barry, James; Berg, Janet; Bernstein, Jonathan A; Cytrynbaum, Cheryl; Chung, Brian Hon‐Yin; Donoghue, Sarah; Dorrani, Naghmeh; Eaton, Alison; Flores‐Daboub, Josue A; Dubbs, Holly; Felix, Carolyn A; Fong, Chin‐To; Fung, Jasmine Lee Fong; Gangaram, Balram; Goldstein, Amy; Greenberg, Rotem; Ha, Thoa K; Hersh, Joseph; Izumi, Kosuke; Kallish, Staci; Kravets, Elijah; Kwok, Pui‐Yan; Jobling, Rebekah K; Johnson, Amy E Knight; Kushner, Jessica; Lee, Bo Hoon; Levin, Brooke; Lindstrom, Kristin; Manickam, Kandamurugu; Mardach, Rebecca; McCormick, Elizabeth; McLeod, D Ross; Mentch, Frank D; Minks, Kelly; Muraresku, Colleen; Nelson, Stanley F; Porazzi, Patrizia; Pichurin, Pavel N; Powell‐Hamilton, Nina N; Powis, Zoe; Ritter, Alyssa; Rogers, Caleb; Rohena, Luis; Ronspies, Carey; Schroeder, Audrey; Stark, Zornitza; Starr, Lois; Stoler, Joan; Suwannarat, Pim; Velinov, Milen; Weksberg, Rosanna; Wilnai, Yael; Zadeh, Neda; Zand, Dina J; Falk, Marni J
American Journal of Medical Genetics Part A. 185(6)
Academic Journal
Bryant, Laura; Li, Dong; Cox, Samuel G; Marchione, Dylan; Joiner, Evan F; Wilson, Khadija; Janssen, Kevin; Lee, Pearl; March, Michael E; Nair, Divya; Sherr, Elliott; Fregeau, Brieana; Wierenga, Klaas J; Wadley, Alexandrea; Mancini, Grazia MS; Powell-Hamilton, Nina; van de Kamp, Jiddeke; Grebe, Theresa; Dean, John; Ross, Alison; Crawford, Heather P; Powis, Zoe; Cho, Megan T; Willing, Marcia C; Manwaring, Linda; Schot, Rachel; Nava, Caroline; Afenjar, Alexandra; Lessel, Davor; Wagner, Matias; Klopstock, Thomas; Winkelmann, Juliane; Catarino, Claudia B; Retterer, Kyle; Schuette, Jane L; Innis, Jeffrey W; Pizzino, Amy; Lüttgen, Sabine; Denecke, Jonas; Strom, Tim M; Monaghan, Kristin G; DDD Study; Yuan, Zuo-Fei; Dubbs, Holly; Bend, Renee; Lee, Jennifer A; Lyons, Michael J; Hoefele, Julia; Günthner, Roman; Reutter, Heiko; Keren, Boris; Radtke, Kelly; Sherbini, Omar; Mrokse, Cameron; Helbig, Katherine L; Odent, Sylvie; Cogne, Benjamin; Mercier, Sandra; Bezieau, Stephane; Besnard, Thomas; Kury, Sebastien; Redon, Richard; Reinson, Karit; Wojcik, Monica H; Õunap, Katrin; Ilves, Pilvi; Innes, A Micheil; Kernohan, Kristin D; Care4Rare Canada Consortium; Costain, Gregory; Meyn, M Stephen; Chitayat, David; Zackai, Elaine; Lehman, Anna; Kitson, Hilary; CAUSES Study; Martin, Martin G; Martinez-Agosto, Julian A; Undiagnosed Diseases Network; Nelson, Stan F; Palmer, Christina GS; Papp, Jeanette C; Parker, Neil H; Sinsheimer, Janet S; Vilain, Eric; Wan, Jijun; Yoon, Amanda J; Zheng, Allison; Brimble, Elise; Ferrero, Giovanni Battista; Radio, Francesca Clementina; Carli, Diana; Barresi, Sabina; Brusco, Alfredo; Tartaglia, Marco; Thomas, Jennifer Muncy; Umana, Luis; Weiss, Marjan M; Gotway, Garrett; Stuurman, KE
Science advances. 6(49)
Academic Journal
Ng, Bobby G; Sosicka, Paulina; Agadi, Satish; Almannai, Mohammed; Bacino, Carlos A; Barone, Rita; Botto, Lorenzo D; Burton, Jennifer E; Carlston, Colleen; Chung, Brian Hon‐Yin; Cohen, Julie S; Coman, David; Dipple, Katrina M; Dorrani, Naghmeh; Dobyns, William B; Elias, Abdallah F; Epstein, Leon; Gahl, William A; Garozzo, Domenico; Hammer, Trine Bjørg; Haven, Jaclyn; Héron, Delphine; Herzog, Matthew; Hoganson, George E; Hunter, Jesse M; Jain, Mahim; Juusola, Jane; Lakhani, Shenela; Lee, Hane; Lee, Joy; Lewis, Katherine; Longo, Nicola; Lourenço, Charles Marques; Mak, Christopher CY; McKnight, Dianalee; Mendelsohn, Bryce A; Mignot, Cyril; Mirzaa, Ghayda; Mitchell, Wendy; Muhle, Hiltrud; Nelson, Stanley F; Olczak, Mariusz; Palmer, Christina GS; Partikian, Arthur; Patterson, Marc C; Pierson, Tyler M; Quinonez, Shane C; Regan, Brigid M; Ross, M Elizabeth; Sacoto, Maria J Guillen; Scaglia, Fernando; Scheffer, Ingrid E; Segal, Devorah; Singhal, Nilika Shah; Striano, Pasquale; Sturiale, Luisa; Symonds, Joseph D; Tang, Sha; Vilain, Eric; Willis, Mary; Wolfe, Lynne A; Yang, Hui; Yano, Shoji; Powis, Zöe; Suchy, Sharon F; Rosenfeld, Jill A; Edmondson, Andrew C; Grunewald, Stephanie; Freeze, Hudson H
Human Mutation. 40(7)
Academic Journal
Cilio, Maria; Van Paesschen, Wim; Svendsen, Lene; Oates, Stephanie; Hughes, Elaine; Goyal, Sushma; Brown, Kathleen; Sifuentes Saenz, Margarita; Dorn, Thomas; Muhle, Hiltrud; Pagnamenta, Alistair; Vavoulis, Dimitris; Knight, Samantha; Taylor, Jenny; Canevini, Maria; Darra, Francesca; Gavrilova, Ralitza; Powis, Zöe; Tang, Shan; Marquetand, Justus; Armstrong, Martin; McHale, Duncan; Klee, Eric; Kluger, Gerhard; Lowenstein, Daniel; Weckhuysen, Sarah; Pal, Deb; Helbig, Ingo; Guerrini, Renzo; Thomas, Rhys; Rees, Mark; Lesca, Gaetan; Sisodiya, Sanjay; Weber, Yvonne; Lal, Dennis; Marini, Carla; Lerche, Holger; Schubert, Julian; Wolking, Stefan; May, Patrick; Mei, Davide; Møller, Rikke; Balestrini, Simona; Helbig, Katherine; Altuzarra, Cecilia; Chatron, Nicolas; Kaiwar, Charu; Stöhr, Katharina; Widdess-Walsh, Peter; Mendelsohn, Bryce; Numis, Adam
Neurology. 92(11)
Academic Journal
Guerrini, Renzo; Mei, Davide; Kerti-Szigeti, Katalin; Pepe, Sara; Koenig, Mary Kay; Allmen, Gretchen Von; Cho, Megan T; McDonald, Kimberly; Baker, Janice; Bhambhani, Vikas; Powis, Zöe; Rodan, Lance; Nabbout, Rima; Barcia, Giulia; Rosenfeld, Jill A; Bacino, Carlos A; Mignot, Cyril; Power, Lillian H; Harris, Catharine J; Marjanovic, Dragan
Academic Journal
In Journal of Clinical Lipidology May-June 2019 13(3):e19-e20
Academic Journal
Palmer, Elizabeth E.; Pusch, Michael; Picollo, Alessandra; Forwood, Caitlin; Nguyen, Matthew H.; Suckow, Vanessa; Gibbons, Jessica; Hoff, Alva; Sigfrid, Lisa; Megarbane, Andre; Nizon, Mathilde; Cogné, Benjamin; Beneteau, Claire; Alkuraya, Fowzan S.; Chedrawi, Aziza; Hashem, Mais O.; Stamberger, Hannah; Weckhuysen, Sarah; Vanlander, Arnaud; Ceulemans, Berten; Rajagopalan, Sulekha; Nunn, Kenneth; Arpin, Stéphanie; Raynaud, Martine; Motter, Constance S.; Ward-Melver, Catherine; Janssens, Katrien; Meuwissen, Marije; Beysen, Diane; Dikow, Nicola; Grimmel, Mona; Haack, Tobias B.; Clement, Emma; McTague, Amy; Hunt, David; Townshend, Sharron; Ward, Michelle; Richards, Linda J.; Simons, Cas; Costain, Gregory; Dupuis, Lucie; Mendoza-Londono, Roberto; Dudding-Byth, Tracy; Boyle, Jackie; Saunders, Carol; Fleming, Emily; El Chehadeh, Salima; Spitz, Marie-Aude; Piton, Amelie; Gerard, Bénédicte; Abi Warde, Marie-Thérèse; Rea, Gillian; McKenna, Caoimhe; Douzgou, Sofia; Banka, Siddharth; Akman, Cigdem; Bain, Jennifer M.; Sands, Tristan T.; Wilson, Golder N.; Silvertooth, Erin J.; Miller, Lauren; Lederer, Damien; Sachdev, Rani; Macintosh, Rebecca; Monestier, Olivier; Karadurmus, Deniz; Collins, Felicity; Carter, Melissa; Rohena, Luis; Willemsen, Marjolein H.; Ockeloen, Charlotte W.; Pfundt, Rolph; Kroft, Sanne D.; Field, Michael; Laranjeira, Francisco E. R.; Fortuna, Ana M.; Soares, Ana R.; Michaud, Vincent; Naudion, Sophie; Golla, Sailaja; Weaver, David D.; Bird, Lynne M.; Friedman, Jennifer; Clowes, Virginia; Joss, Shelagh; Pölsler, Laura; Campeau, Philippe M.; Blazo, Maria; Bijlsma, Emilia K.; Rosenfeld, Jill A.; Beetz, Christian; Powis, Zöe; McWalter, Kirsty; Brandt, Tracy; Torti, Erin; Mathot, Mikaël; Mohammad, Shekeeb S.; Armstrong, Ruth; Kalscheuer, Vera M.
Molecular Psychiatry. 28(2):668-697
Academic Journal
Hiatt, Susan M.; Neu, Matthew B.; Ramaker, Ryne C.; Hardigan, Andrew A.; Prokop, Jeremy W.; Hancarova, Miroslava; Prchalova, Darina; Havlovicova, Marketa; Prchal, Jan; Stranecky, Viktor; Yim, Dwight K. C.; Powis, Zöe; Keren, Boris; Nava, Caroline; Mignot, Cyril; Rio, Marlene; Revah-Politi, Anya; Hemati, Parisa; Stong, Nicholas; Iglesias, Alejandro D.
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