학술논문
'학술논문'
에서 검색결과 837건 | 목록
1~10
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
Deb, Wallid; Rosenfelt, Cory; Vignard, Virginie; Papendorf, Jonas Johannes; Möller, Sophie; Wendlandt, Martin; Studencka-Turski, Maja; Cogné, Benjamin; Besnard, Thomas; Ruffier, Léa; Toutain, Bérénice; Poirier, Léa; Cuinat, Silvestre; Kritzer, Amy; Crunk, Amy; diMonda, Janette; Vengoechea, Jaime; Mercier, Sandra; Kleinendorst, Lotte; van Haelst, Mieke M.; Zuurbier, Linda; Sulem, Telma; Katrínardóttir, Hildigunnur; Friðriksdóttir, Rún; Sulem, Patrick; Stefansson, Kari; Jonsdottir, Berglind; Zeidler, Shimriet; Sinnema, Margje; Stegmann, Alexander P.A.; Naveh, Natali; Skraban, Cara M.; Gray, Christopher; Murrell, Jill R.; Isikay, Sedat; Pehlivan, Davut; Calame, Daniel G.; Posey, Jennifer E.; Nizon, Mathilde; McWalter, Kirsty; Lupski, James R.; Isidor, Bertrand; Bolduc, François V.; Bézieau, Stéphane; Krüger, Elke; Küry, Sébastien; Ebstein, Frédéric
In The American Journal of Human Genetics 11 July 2024 111(7):1352-1369
Academic Journal
Cuinat, Silvestre; Bézieau, Stéphane; Deb, Wallid; Mercier, Sandra; Vignard, Virginie; Isidor, Bertrand; Küry, Sébastien; Ebstein, Frédéric
In Genes & Diseases November 2024 11(6)
Academic Journal
Chettle, James; Louie, Raymond J.; Larner, Olivia; Best, Robert; Chen, Kevin; Morris, Josephine; Dedeic, Zinaida; Childers, Anna; Rogers, R. Curtis; DuPont, Barbara R.; Skinner, Cindy; Küry, Sébastien; Uguen, Kevin; Planes, Marc; Monteil, Danielle; Li, Megan; Eliyahu, Aviva; Greenbaum, Lior; Mor, Nofar; Besnard, Thomas; Isidor, Bertrand; Cogné, Benjamin; Blesson, Alyssa; Comi, Anne; Wentzensen, Ingrid M.; Vuocolo, Blake; Lalani, Seema R.; Sierra, Roberta; Berry, Lori; Carter, Kent; Sanders, Stephan J.; Blagden, Sarah P.
In Human Genetics and Genomics Advances 10 October 2024 5(4)
Academic Journal
Ebstein, Frédéric; Latypova, Xenia; Sharon Hung, Ka Ying; Prado, Miguel A.; Lee, Byung-Hoon; Möller, Sophie; Wendlandt, Martin; Zieba, Barbara A.; Florenceau, Laëtitia; Vignard, Virginie; Poirier, Léa; Toutain, Bérénice; Moroni, Isabella; Dubucs, Charlotte; Chassaing, Nicolas; Horvath, Judit; Prokisch, Holger; Küry, Sébastien; Bézieau, Stéphane; Paulo, Joao A.; Finley, Daniel; Krüger, Elke; Ghezzi, Daniele; Isidor, Bertrand
In Genetics in Medicine June 2024 26(6)
Academic Journal
de Masfrand, Servane; Cogné, Benjamin; Nizon, Mathilde; Deb, Wallid; Goldenberg, Alice; Lecoquierre, François; Nicolas, Gaël; Bournez, Marie; Vitobello, Antonio; Mau-Them, Frédéric Tran; le Guyader, Gwenaël; Bilan, Frédéric; Bauer, Peter; Zweier, Christiane; Piard, Juliette; Pasquier, Laurent; Bézieau, Stéphane; Gerard, Bénédicte; Faivre, Laurence; Saugier-Veber, Pascale; Piton, Amélie; Isidor, Bertrand
In European Journal of Medical Genetics June 2024 69
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
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
Smolen, Corrine; Jensen, Matthew; Dyer, Lisa; Pizzo, Lucilla; Tyryshkina, Anastasia; Banerjee, Deepro; Rohan, Laura; Huber, Emily; El Khattabi, Laila; Prontera, Paolo; Caberg, Jean-Hubert; Van Dijck, Anke; Schwartz, Charles; Faivre, Laurence; Callier, Patrick; Mosca-Boidron, Anne-Laure; Lefebvre, Mathilde; Pope, Kate; Snell, Penny; Lockhart, Paul J.; Castiglia, Lucia; Galesi, Ornella; Avola, Emanuela; Mattina, Teresa; Fichera, Marco; Luana Mandarà, Giuseppa Maria; Bruccheri, Maria Grazia; Pichon, Olivier; Le Caignec, Cedric; Stoeva, Radka; Cuinat, Silvestre; Mercier, Sandra; Bénéteau, Claire; Blesson, Sophie; Nordsletten, Ashley; Martin-Coignard, Dominique; Sistermans, Erik; Kooy, R. Frank; Amor, David J.; Romano, Corrado; Isidor, Bertrand; Juusola, Jane; Girirajan, Santhosh
In The American Journal of Human Genetics 7 December 2023 110(12):2015-2028
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