학술논문
'학술논문'
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1~10
Academic Journal
Souza, Josiane; Faucz, Fábio; Sotomaior, Vanessa; Bonalumi Filho, Aguinaldo; Rosenfeld, Jill; Raskin, Salmo
Genetics and Molecular Biology. January 2011 34(4)
Academic Journal
Agrawal, Pankaj; Armstrong Scott, Daryl; Barkoudah, Elizabeth; Bellini, Melissa; Beneteau, Claire; Bjørgo, Kathrine; Brooks, Alice; Brown, Natasha; Castle, Alison; Castro, Diana; Chorin, Odelia; Cleghorn, Mark; Clement, Emma; Coman, David; Costin, Carrie; Devriendt, Koen; Dong, Dexin; Dries, Annika; Duelund Hjortshøj, Tina; Dyment, David; Eng, Christine; Genetti, Casie; Grano, Siera; Henneman, Peter; Heron, Delphine; Hoffmann, Katrin; Hom, Jason; Du, Haowei; Iascone, Maria; Isidor, Bertrand; Järvelä, Irma E.; Jones, Julie; Keren, Boris; Koenig, Mary Kay; Kohlhase, Jürgen; Lalani, Seema; Le Caignec, Cedric; Lewis, Andi; Liu, Pengfei; Lovgren, Alysia; Lupski, James R.; Lyons, Mike; Lysy, Philippe; Manning, Melanie; Marcelis, Carlo; McLean, Scott Douglas; Mercie, Sandra; Mertens, Mareike; Molin, Arnaud; Nizon, Mathilde; Nugent, Kimberly Margaret; Öhman, Susanna; O'Leary, Melanie; Okashah Littlejohn, Rebecca; Petit, Florence; Pfundt, Rolph; Pottocki, Lorraine; Raas-Rotschild, Annick; Ranguin, Kara; Revencu, Nicole; Rosenfeld, Jill; Rhodes, Lindsay; Santos Simmaro, Fernando; Sals, Karen; Schieving, Jolanda; Schrauwen, Isabelle; Schuurs-Hoeijmakers, Janneke H.M.; Seaby, Eleanor G.; Sheffer, Ruth; Snijders Blok, Lot; Sørensen, Kristina P.; Srivastava, Siddharth; Stark, Zornitza; Stoeva, Radka; Stutterd, Chloe; Tan, Natalie B.; Mathiesen Torring, Pernille; Vanakker, Olivier; van der Laan, Liselot; Ververi, Athina; Villavicencio-Lorini, Pablo; Vincent, Marie; Wand, Dorothea; Wessels, Marja; White, Sue; Wojcik, Monica H.; Wu, Nan; Zhao, Sen; Pérez Baca, María del Rocío; Jacobs, Eva Z.; Vantomme, Lies; Leblanc, Pontus; Bogaert, Elke; Dheedene, Annelies; De Cock, Laurenz; Haghshenas, Sadegheh; Foroutan, Aidin; Levy, Michael A.; Kerkhof, Jennifer; McConkey, Haley; Chen, Chun-An; Batzir, Nurit Assia; Wang, Xia; Palomares, María; Carels, Marieke; Dermaut, Bart; Sadikovic, Bekim; Menten, Björn; Yuan, Bo; Vergult, Sarah; Callewaert, Bert
In The American Journal of Human Genetics 7 March 2024 111(3):509-528
Academic Journal
Guo, Long; Salian, Smrithi; Xue, Jing-Yi; Rath, Nicola; Rousseau, Justine; Kim, Hyunyun; Ehresmann, Sophie; Moosa, Shahida; Nakagawa, Norio; Kuroda, Hiroshi; Clayton-Smith, Jill; Wang, Juan; Wang, Zheng; Banka, Siddharth; Jackson, Adam; Zhang, Yan-Min; Wei, Zhen-Jie; Hüning, Irina; Brunet, Theresa; Ohashi, Hirofumi; Thomas, Molly; Bupp, Caleb; Miyake, Noriko; Matsumoto, Naomichi; Mendoza-Londono, Roberto; Costain, Gregory; Hahn, Gabriele; Di Donato, Nataliya; Yigit, Gökhan; Yamada, Takahiro; Nishimura, Gen; Wollnik, Bernd; Hrabě de Angelis, Martin; Mégarbané, André; Rosenfeld, Jill; Heissmeyer, Vigo; Ikegawa, Shiro; Campeau, Philippe; Ansel, Karl
American Journal of Human Genetics. 110(7)
Academic Journal
Sy, Mary; Chauhan, Jaynee; Prescott, Katrina; Imam, Aliza; Kraus, Alison; Beleza, Ana; Salkeld, Lee; Hosdurga, Saraswati; Parker, Michael; Vasudevan, Pradeep; Islam, Lily; Goel, Himanshu; Bain, Nicole; Park, Soo-Mi; Mohammed, Shehla; Dieterich, Klaus; Coutton, Charles; Satre, Véronique; Vieville, Gaëlle; Donaldson, Alan; Beneteau, Claire; Ghoumid, Jamal; Van Den Bogaert, Kris; Boogaerts, Anneleen; Boudry, Elise; Vanlerberghe, Clémence; Petit, Florence; Bernardini, Laura; Torres, Barbara; Mattina, Teresa; Carli, Diana; Mandrile, Giorgia; Pinelli, Michele; Brunetti-Pierri, Nicola; Neas, Katherine; Beddow, Rachel; Tørring, Pernille; Faletra, Flavio; Spedicati, Beatrice; Gasparini, Paolo; Mussa, Alessandro; Ferrero, Giovanni; Lampe, Anne; Lam, Wayne; Bi, Weimin; Bacino, Carlos; Kuwahara, Akela; Zhao, Xiaonan; Luna, Pamela; Shaw, Chad; Rosenfeld, Jill; Scott, Daryl; Bush, Jeffrey
American Journal of Medical Genetics Part A. 188(12)
Academic Journal
Hardcastle, Amy; Berry, Aliska; Campbell, Ian; Zhao, Xiaonan; Liu, Pengfei; Gerard, Amanda; Rosenfeld, Jill; Sisoudiya, Saumya; Hernandez-Garcia, Andres; Loddo, Sara; Di Tommaso, Silvia; Novelli, Antonio; Dentici, Maria; Capolino, Rossella; Digilio, Maria; Graziani, Ludovico; Rustad, Cecilie; Neas, Katherine; Ferrero, Giovanni; Brusco, Alfredo; Di Gregorio, Eleonora; Wellesley, Diana; Beneteau, Claire; Joubert, Madeleine; Van Den Bogaert, Kris; Boogaerts, Anneleen; McMullan, Dominic; Dean, John; Giuffrida, Maria; Bernardini, Laura; Varghese, Vinod; Shannon, Nora; Harrison, Rachel; Lam, Wayne; McKee, Shane; Turnpenny, Peter; Cole, Trevor; Morton, Jenny; Eason, Jacqueline; Hall, Rebecca; Wright, Michael; Horridge, Karen; Shaw, Chad; Chung, Wendy; Scott, Daryl; Jones, Marilyn
American Journal of Medical Genetics Part A. 188(10)
Academic Journal
Van Dijck, Anke; van der Werf, Ilse M.; Reyniers, Edwin; Scheers, Stefaan; Azage, Meron; Siefkas, Kiana; Van der Aa, Nathalie; Lacroix, Amy; Rosenfeld, Jill; Argiropoulos, Bob; Davis, Kellie; Innes, A.Micheil; Mefford, Heather C.; Mortier, Geert; Meuwissen, Marije; Kooy, R.Frank
In European Journal of Medical Genetics October 2015 58(10):503-508
Academic Journal
Parobek, Christian M.; Shanahan, Matthew A.; Lazar, Roni Zemet; Burnett, Brian; Mizerik, Elizabeth; Rosenfeld, Jill; Vossaert, Liesbeth; Clark, Steven; Hunter, Jill; Lalani, Seema
In American Journal of Obstetrics and Gynecology January 2024 230(1) Supplement:S371-S371
Academic Journal
Gillentine, Madelyn A; Wang, Tianyun; Hoekzema, Kendra; Rosenfeld, Jill; Liu, Pengfei; Guo, Hui; Kim, Chang N; De Vries, Bert BA; Vissers, Lisenka ELM; Nordenskjold, Magnus; Kvarnung, Malin; Lindstrand, Anna; Nordgren, Ann; Gecz, Jozef; Iascone, Maria; Cereda, Anna; Scatigno, Agnese; Maitz, Silvia; Zanni, Ginevra; Bertini, Enrico; Zweier, Christiane; Schuhmann, Sarah; Wiesener, Antje; Pepper, Micah; Panjwani, Heena; Torti, Erin; Abid, Farida; Anselm, Irina; Srivastava, Siddharth; Atwal, Paldeep; Bacino, Carlos A; Bhat, Gifty; Cobian, Katherine; Bird, Lynne M; Friedman, Jennifer; Wright, Meredith S; Callewaert, Bert; Petit, Florence; Mathieu, Sophie; Afenjar, Alexandra; Christensen, Celenie K; White, Kerry M; Elpeleg, Orly; Berger, Itai; Espineli, Edward J; Fagerberg, Christina; Brasch-Andersen, Charlotte; Hansen, Lars Kjærsgaard; Feyma, Timothy; Hughes, Susan; Thiffault, Isabelle; Sullivan, Bonnie; Yan, Shuang; Keller, Kory; Keren, Boris; Mignot, Cyril; Kooy, Frank; Meuwissen, Marije; Basinger, Alice; Kukolich, Mary; Philips, Meredith; Ortega, Lucia; Drummond-Borg, Margaret; Lauridsen, Mathilde; Sorensen, Kristina; Lehman, Anna; CAUSES Study; Lopez-Rangel, Elena; Levy, Paul; Lessel, Davor; Lotze, Timothy; Madan-Khetarpal, Suneeta; Sebastian, Jessica; Vento, Jodie; Vats, Divya; Benman, L Manace; Mckee, Shane; Mirzaa, Ghayda M; Muss, Candace; Pappas, John; Peeters, Hilde; Romano, Corrado; Elia, Maurizio; Galesi, Ornella; Simon, Marleen EH; van Gassen, Koen LI; Simpson, Kara; Stratton, Robert; Syed, Sabeen; Thevenon, Julien; Palafoll, Irene Valenzuela; Vitobello, Antonio; Bournez, Marie; Faivre, Laurence; Xia, Kun; SPARK Consortium; Earl, Rachel K; Nowakowski, Tomasz; Bernier, Raphael A; Eichler, Evan E
Genome medicine. 13(1)
Academic Journal
den Hoed, Joery; de Boer, Elke; Voisin, Norine; Dingemans, Alexander; Guex, Nicolas; Wiel, Laurens; Nellaker, Christoffer; Amudhavalli, Shivarajan; Banka, Siddharth; Bena, Frederique; Ben-Zeev, Bruria; Bonagura, Vincent; Bruel, Ange-Line; Brunet, Theresa; Brunner, Han; Chew, Hui; Chrast, Jacqueline; Cimbalistienė, Loreta; Coon, Hilary; Délot, Emmanuèlle; Démurger, Florence; Denommé-Pichon, Anne-Sophie; Depienne, Christel; Donnai, Dian; Dyment, David; Elpeleg, Orly; Faivre, Laurence; Gilissen, Christian; Granger, Leslie; Haber, Benjamin; Hachiya, Yasuo; Abedi, Yasmin; Hanebeck, Jennifer; Hehir-Kwa, Jayne; Horist, Brooke; Itai, Toshiyuki; Jackson, Adam; Jewell, Rosalyn; Jones, Kelly; Joss, Shelagh; Kashii, Hirofumi; Kato, Mitsuhiro; Kattentidt-Mouravieva, Anja; Kok, Fernando; Kotzaeridou, Urania; Krishnamurthy, Vidya; Kučinskas, Vaidutis; Kuechler, Alma; Lavillaureix, Alinoë; Liu, Pengfei; Manwaring, Linda; Matsumoto, Naomichi; Mazel, Benoît; McWalter, Kirsty; Meiner, Vardiella; Mikati, Mohamad; Miyatake, Satoko; Mizuguchi, Takeshi; Moey, Lip; Mohammed, Shehla; Mor-Shaked, Hagar; Mountford, Hayley; Newbury-Ecob, Ruth; Odent, Sylvie; Orec, Laura; Osmond, Matthew; Palculict, Timothy; Parker, Michael; Petersen, Andrea; Pfundt, Rolph; Preikšaitienė, Eglė; Radtke, Kelly; Ranza, Emmanuelle; Rosenfeld, Jill; Santiago-Sim, Teresa; Schwager, Caitlin; Sinnema, Margje; Snijders Blok, Lot; Spillmann, Rebecca; Stegmann, Alexander; Thiffault, Isabelle; Tran, Linh; Vaknin-Dembinsky, Adi; Vedovato-Dos-Santos, Juliana; Schrier Vergano, Samantha; Vilain, Eric; Vitobello, Antonio; Wagner, Matias; Waheeb, Androu; Willing, Marcia; Zuccarelli, Britton; Kini, Usha; Newbury, Dianne; Kleefstra, Tjitske; Reymond, Alexandre; Fisher, Simon; Vissers, Lisenka
American Journal of Human Genetics. 108(2)
Academic Journal
Guo, Hui; Bettella, Elisa; Marcogliese, Paul; Zhao, Rongjuan; Andrews, Jonathan; Nowakowski, Tomasz; Gillentine, Madelyn; Hoekzema, Kendra; Wang, Tianyun; Wu, Huidan; Jangam, Sharayu; Liu, Cenying; Ni, Hailun; Willemsen, Marjolein; van Bon, Bregje; Rinne, Tuula; Stevens, Servi; Kleefstra, Tjitske; Brunner, Han; Yntema, Helger; Long, Min; Zhao, Wenjing; Hu, Zhengmao; Colson, Cindy; Richard, Nicolas; Schwartz, Charles; Romano, Corrado; Castiglia, Lucia; Bottitta, Maria; Dhar, Shweta; Erwin, Deanna; Emrick, Lisa; Keren, Boris; Afenjar, Alexandra; Zhu, Baosheng; Bai, Bing; Stankiewicz, Pawel; Mercimek-Andrews, Saadet; Juusola, Jane; Wilfert, Amy; Abou Jamra, Rami; Büttner, Benjamin; Mefford, Heather; Muir, Alison; Scheffer, Ingrid; Regan, Brigid; Malone, Stephen; Gecz, Jozef; Cobben, Jan; Weiss, Marjan; Waisfisz, Quinten; Bijlsma, Emilia; Hoffer, Mariëtte; Ruivenkamp, Claudia; Sartori, Stefano; Xia, Fan; Rosenfeld, Jill; Bernier, Raphael; Wangler, Michael; Yamamoto, Shinya; Xia, Kun; Stegmann, Alexander; Bellen, Hugo; Murgia, Alessandra; Eichler, Evan; Herman, Kristin
Nature Communications. 10(1)
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