학술논문
'학술논문'
에서 검색결과 232건 | 목록
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
Chen, Yuyang; Dawes, Ruebena; Kim, Hyung; Ljungdahl, Alicia; Stenton, Sarah; Walker, Susan; Lord, Jenny; Lemire, Gabrielle; Martin-Geary, Alexandra; Ganesh, Vijay; Ma, Jialan; Ellingford, Jamie; Delage, Erwan; DSouza, Elston; Dong, Shan; Adams, David; Allan, Kirsten; Bakshi, Madhura; Baldwin, Erin; Berger, Seth; Bernstein, Jonathan; Bhatnagar, Ishita; Blair, Ed; Brown, Natasha; Burrage, Lindsay; Chapman, Kimberly; Coman, David; Compton, Alison; Cunningham, Chloe; DSouza, Precilla; Danecek, Petr; Délot, Emmanuèle; Dias, Kerith-Rae; Elias, Ellen; Elmslie, Frances; Evans, Care-Anne; Ewans, Lisa; Ezell, Kimberly; Fraser, Jamie; Gallacher, Lyndon; Genetti, Casie; Goriely, Anne; Grant, Christina; Haack, Tobias; Higgs, Jenny; Hinch, Anjali; Hurles, Matthew; Kuechler, Alma; Lachlan, Katherine; Lalani, Seema; Lecoquierre, François; Leitão, Elsa; Fevre, Anna; Leventer, Richard; Liebelt, Jan; Lindsay, Sarah; Lockhart, Paul; Ma, Alan; Macnamara, Ellen; Mansour, Sahar; Maurer, Taylor; Mendez, Hector; Metcalfe, Kay; Montgomery, Stephen; Moosajee, Mariya; Nassogne, Marie-Cécile; Neumann, Serena; ODonoghue, Michael; OLeary, Melanie; Palmer, Elizabeth; Pattani, Nikhil; Phillips, John; Pitsava, Georgia; Pysar, Ryan; Rehm, Heidi; Reuter, Chloe; Revencu, Nicole; Riess, Angelika; Rius, Rocio; Rodan, Lance; Roscioli, Tony; Rosenfeld, Jill; Sachdev, Rani; Shaw-Smith, Charles; Simons, Cas; Sisodiya, Sanjay; Snell, Penny; St Clair, Laura; Stark, Zornitza; Stewart, Helen; Tan, Tiong; Tan, Natalie; Temple, Suzanna; Thorburn, David; Tifft, Cynthia; Uebergang, Eloise; VanNoy, Grace; Vasudevan, Pradeep; Vilain, Eric; Viskochil, David
Nature: New biology. 632(8026)
Academic Journal
Früh, Simon; Boudkkazi, Sami; Koppensteiner, Peter; Sereikaite, Vita; Chen, Li-Yuan; Fernandez-Fernandez, Diego; Rem, Pascal; Ulrich, Daniel; Schwenk, Jochen; Chen, Ziyang; Le Monnier, Elodie; Fritzius, Thorsten; Innocenti, Sabrina; Besseyrias, Valérie; Trovò, Luca; Stawarski, Michal; Argilli, Emanuela; Sherr, Elliott; van Bon, Bregje; Kamsteeg, Erik-Jan; Iascone, Maria; Pilotta, Alba; Cutrì, Maria; Azamian, Mahshid; Hernández-García, Andrés; Lalani, Seema; Rosenfeld, Jill; Zhao, Xiaonan; Vogel, Tiphanie; Ona, Herda; Scott, Daryl; Scheiffele, Peter; Strømgaard, Kristian; Tafti, Mehdi; Gassmann, Martin; Fakler, Bernd; Shigemoto, Ryuichi; Bettler, Bernhard
Science Advances. 10(28)
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; Ansel, Karl; Wollnik, Bernd; Hrabě de Angelis, Martin; Mégarbané, André; Rosenfeld, Jill; Heissmeyer, Vigo; Ikegawa, Shiro; Campeau, Philippe
American Journal of Human Genetics. 110(7)
Academic Journal
Macakova, Kristina; Sinson, Jefferson; Zhao, Sen; Dai, Hongzheng; Rosenfeld, Jill; Zapata, Gladys; Li, Shenglan; Ward, Patricia; Wang, Christiana; Qu, Chunjing; Maywald, Becky; Network, Undiagnosed Disease; Lee, Brendan; Eng, Christine; Liu, Pengfei
In Genetics in Medicine Open 2024 2 Supplement 1
Academic Journal
Bradbrook, Sam; Graham, Gail; Carter, Melissa; Kibaek, Maria; Larsen, Martin; Fagerberg, Christina; Dawson, Katherine; Meuter, Cheryl; Pepler, Alexander; Besnard, Thomas; Isidor, Bertrand; Bezieau, Stéphane; Cogné, Benjamin; Vincent, Marie; Bjorgo, Katherine; Courtin, Thomas; Emrick, Lisa; Rosenfeld, Jill; Network, Undiagnosed Diseases; Martinez-Agosto, Julian; Heulin, Mathilde; Morin, Gilles; Monin, Pauline; Januel, Louis; Bonnet-Dupeyron, Marie-Noëlle; Pujalte, Mathilde; Worley, Kim; Weisz-Hubshman, Monika; Dickson, Patricia; Thompson, Michelle; Marcadier, Julien
In Genetics in Medicine Open 2024 2 Supplement 1
Academic Journal
Burrage, Lindsay; Lanza, Denise; Marcogliese, Paul; Lu, Di; Logan Hsu, Chih-Wei; Aceves, Nathalie; Gonzalez, Matthew; Christiansen, Audrey; Rasmussen, Tara; Gaspero, Angelina; Seavitt, John; Dickinson, Mary; Shayota, Brian; Pachter, Stephanie; Day-Salvatore, Debra-Lynn; Kanca, Oguz; Wangler, Michael; Potocki, Lorraine; Rosenfeld, Jill; Lee, Brendan; Yamamoto, Shinya; Bellen, Hugo; Heaney, Jason
In Genetics in Medicine Open 2024 2 Supplement 1
Academic Journal
Palmer, Elizabeth; Pusch, Michael; Picollo, Alessandra; Forwood, Caitlin; Nguyen, Matthew; Suckow, Vanessa; Gibbons, Jessica; Hoff, Alva; Sigfrid, Lisa; Megarbane, Andre; Nizon, Mathilde; Cogné, Benjamin; Beneteau, Claire; Alkuraya, Fowzan; Chedrawi, Aziza; Hashem, Mais; Stamberger, Hannah; Weckhuysen, Sarah; Vanlander, Arnaud; Ceulemans, Berten; Rajagopalan, Sulekha; Nunn, Kenneth; Arpin, Stéphanie; Raynaud, Martine; Motter, Constance; Ward-Melver, Catherine; Janssens, Katrien; Meuwissen, Marije; Beysen, Diane; Dikow, Nicola; Grimmel, Mona; Haack, Tobias; Clement, Emma; McTague, Amy; Hunt, David; Townshend, Sharron; Ward, Michelle; Richards, Linda; 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; Sands, Tristan; Wilson, Golder; Silvertooth, Erin; Miller, Lauren; Lederer, Damien; Sachdev, Rani; Macintosh, Rebecca; Monestier, Olivier; Karadurmus, Deniz; Collins, Felicity; Carter, Melissa; Rohena, Luis; Willemsen, Marjolein; Ockeloen, Charlotte; Pfundt, Rolph; Kroft, Sanne; Field, Michael; Laranjeira, Francisco; Fortuna, Ana; Soares, Ana; Michaud, Vincent; Naudion, Sophie; Golla, Sailaja; Weaver, David; Bird, Lynne; Friedman, Jennifer; Clowes, Virginia; Joss, Shelagh; Pölsler, Laura; Campeau, Philippe; Blazo, Maria; Bijlsma, Emilia; Rosenfeld, Jill; Beetz, Christian; Powis, Zöe; McWalter, Kirsty; Brandt, Tracy; Torti, Erin; Mathot, Mikaël; Mohammad, Shekeeb; Armstrong, Ruth; Kalscheuer, Vera
Molecular Psychiatry. 28(2)
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
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