학술논문
'학술논문'
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1~10
Academic Journal
Vabres, Pierre; Sorlin, Arthur; Kholmanskikh, Stanislav S.; Demeer, Bénédicte; St-Onge, Judith; Duffourd, Yannis; Kuentz, Paul; Courcet, Jean-Benoît; Carmignac, Virginie; Garret, Philippine; Bessis, Didier; Boute, Odile; Bron, Alain; Captier, Guillaume; Carmi, Esther; Devauchelle, Bernard; Geneviève, David; Gondry-Jouet, Catherine; Guibaud, Laurent; Lafon, Arnaud; Mathieu-Dramard, Michèle; Thevenon, Julien; Dobyns, William B.; Bernard, Geneviève; Polubothu, Satyamaanasa; Faravelli, Francesca; Kinsler, Veronica A.; Thauvin, Christel; Faivre, Laurence; Ross, M. Elizabeth; Rivière, Jean-Baptiste
Nature Genetics. 51(10):1438-1441
Academic Journal
Vabres, Pierre; Sorlin, Arthur; Kholmanskikh, Stanislav S.; Demeer, Bénédicte; St-Onge, Judith; Duffourd, Yannis; Kuentz, Paul; Courcet, Jean-Benoît; Carmignac, Virginie; Garret, Philippine; Bessis, Didier; Boute, Odile; Bron, Alain; Captier, Guillaume; Carmi, Esther; Devauchelle, Bernard; Geneviève, David; Gondry-Jouet, Catherine; Guibaud, Laurent; Lafon, Arnaud; Mathieu-Dramard, Michèle; Thevenon, Julien; Dobyns, William B.; Bernard, Geneviève; Polubothu, Satyamaanasa; Faravelli, Francesca; Kinsler, Veronica A.; Thauvin, Christel; Faivre, Laurence; Ross, M. Elizabeth; Rivière, Jean-Baptiste
Nature Genetics. 51(11):1660-1660
Academic Journal
Jacquemont, S; Reymond, A; Zufferey, F; Harewood, L; Walters, RG; Kutalik, Z; Martinet, D; Shen, YP; Valsesia, A; Beckmann, ND; Thorleifsson, G; Belfiore, M; Bouquillon, S; Campion, D; de Leeuw, N; de Vries, BBA; Esko, T; Fernandez, BA; Fernandez-Aranda, F; Fernandez-Real, JM; Gratacos, M; Guilmatre, A; Hoyer, J; Jarvelin, MR; Kooy, RF; Kurg, A; Le Caignec, C; Mannik, K; Platt, OS; Sanlaville, D; Van Haelst, MM; Gomez, SV; Walha, F; Wu, BL; Yu, YG; Aboura, A; Addor, MC; Alembik, Y; Antonarakis, SE; Arveiler, B; Barth, M; Bednarek, N; Bena, F; Bergmann, S; Beri, M; Bernardini, L; Blaumeiser, B; Bonneau, D; Bottani, A; Boute, O; Brunner, HG; Cailley, D; Callier, P; Chiesa, J; Chrast, J; Coin, L; Coutton, C; Cuisset, JM; Cuvellier, JC; David, A; de Freminville, B; Delobel, B; Delrue, MA; Demeer, B; Descamps, D; Didelot, G; Dieterich, K; Disciglio, V; Doco-Fenzy, M; Drunat, S; Duban-Bedu, B; Dubourg, C; Moustafa, JSE; Elliott, P; Faas, BHW; Faivre, L; Faudet, A; Fellmann, F; Ferrarini, A; Fisher, R; Flori, E; Forer, L; Gaillard, D; Gerard, M; Gieger, C; Gimelli, S; Gimelli, G; Grabe, HJ; Guichet, A; Guillin, O; Hartikainen, AL; Heron, D; Hippolyte, L; Holder, M; Homuth, G; Isidor, B; Jaillard, S; Jaros, Z; Jimenez-Murcia, S; Helas, GJ; Jonveaux, P; Kaksonen, S; Keren, B; Kloss-Brandstatter, A; Knoers, NVAM; Koolen, DA; Kroisel, PM; Kronenberg, F; Labalme, A; Landais, E; Lapi, E; Layet, V; Legallic, S; Leheup, B; Leube, B; Lewis, S; Lucas, J; MacDermot, KD; Magnusson, P; Marshall, C; Mathieu-Dramard, M; McCarthy, MI; Meitinger, T; Mencarelli, MA; Merla, G; Moerman, A; Mooser, V; Morice-Picard, F; Mucciolo, M; Nauck, M; Ndiaye, NC; Nordgren, A; Pasquier, L; Petit, F; Pfundt, R; Plessis, G; Rajcan-Separovic, E; Ramelli, GP; Rauch, A; Ravazzolo, R; Reis, A; Renieri, A; Richart, C; Ried, JS; Rieubland, C; Roberts, W; Roetzer, KM; Rooryck, C; Rossi, M; Saemundsen, E; Satre, V; Schurmann, C; Sigurdsson, E; Stavropoulos, DJ; Stefansson, H; Tengstrom, C; Thorsteinsdottir, U; Tinahones, FJ; Touraine, R; Vallee, L; van Binsbergen, E; Van der Aa, N; Vincent-Delorme, C; Visvikis-Siest, S; Vollenweider, P; Volzke, H; Vulto-van Silfhout, AT; Waeber, G; Wallgren-Pettersson, C; Witwicki, RM; Zwolinksi, S; Andrieux, J; Estivill, X; Gusella, JF; Gustafsson, O; Metspalu, A; Scherer, SW; Stefansson, K; Blakemore, AIF; Beckmann, JS; Froguel, P
Nature. 478(7367):97-U111
Academic Journal
Avila, M.; Dyment, D. A.; Sagen, J. V.; St-Onge, J.; Moog, U.; Chung, B. H.Y.; Mo, S.; Mansour, S.; Albanese, A.; Garcia, S.; Martin, D. O.; Lopez, A. A.; Claudi, T.; König, R.; White, S. M.; Sawyer, S. L.; Bernstein, J. A.; Slattery, L.; Jobling, R. K.; Yoon, G.; Curry, C. J.; Merrer, M. L.; Luyer, B. L.; Héron, D.; Mathieu-Dramard, M.; Bitoun, P.; Odent, S.; Amiel, J.; Kuentz, P.; Thevenon, J.; Laville, M.; Reznik, Y.; Fagour, C.; Nunes, M.-L.; Delesalle, D.; Manouvrier, S.; Lascols, O.; Huet, F.; Binquet, C.; Faivre, L.; Rivière, J.-B.; Vigouroux, C.; Njlstad, P. R.; Innes, A. M.; Thauvin-Robinet, C.
Clinical Genetics. Apr 01, 2016 89(4):501-506
Academic Journal
Lavoine, N; Colas, C; Muleris, M; Bodo, S; Duval, A; Entz-Werle, N; Coulet, F; Cabaret, O; Andreiuolo, F; Charpy, C; Sebille, G; Wang, Q; Lejeune, S; Buisine, M P; Leroux, D; Couillault, G; Leverger, G; Fricker, J P; Guimbaud, R; Mathieu-Dramard, M; Jedraszak, G; Cohen-Hagenauer, O; Guerrini-Rousseau, L; Bourdeaut, F; Grill, J; Caron, O; Baert-Dusermont, S; Tinat, J; Bougeard, G; Frébourg, T; Brugières, L
Journal of Medical Genetics. Nov 01, 2015 52(11):770-778
Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder
Academic Journal
Courraud, Jeremie; Chater-Diehl, Eric; Durand, Benjamin; Vincent, Marie; del Mar Muniz Moreno, Maria; Boujelbene, Imene; Drouot, Nathalie; Genschik, Loreline; Schaefer, Elise; Nizon, Mathilde; Gerard, Benedicte; Abramowicz, Marc; Cogne, Benjamin; Bronicki, Lucas; Burglen, Lydie; Barth, Magalie; Charles, Perrine; Colin, Estelle; Coubes, Christine; David, Albert; Delobel, Bruno; Demurger, Florence; Passemard, Sandrine; Denomme, Anne-Sophie; Faivre, Laurence; Feger, Claire; Fradin, Melanie; Francannet, Christine; Genevieve, David; Goldenberg, Alice; Guerrot, Anne-Marie; Isidor, Bertrand; Johannesen, Katrine M.; Keren, Boris; Kibaek, Maria; Kuentz, Paul; Mathieu-Dramard, Michele; Demeer, Benedicte; Metreau, Julia; Steensbjerre Moller, Rikke; Moutton, Sebastien; Pasquier, Laurent; Pilekaer Sorensen, Kristina; Perrin, Laurence; Renaud, Mathilde; Saugier, Pascale; Rio, Marlene; Svane, Joane; Thevenon, Julien; Tran Mau Them, Frederic; Tronhjem, Cathrine Elisabeth; Vitobello, Antonio; Layet, Valerie; Auvin, Stephane; Khachnaoui, Khaoula; Birling, Marie-Christine; Drunat, Severine; Bayat, Allan; Dubourg, Christele; El Chehadeh, Salima; Fagerberg, Christina; Mignot, Cyril; Guipponi, Michel; Bienvenu, Thierry; Herault, Yann; Thompson, Julie; Willems, Marjolaine; Mandel, Jean-Louis; Weksberg, Rosanna; Piton, Amelie
Electronic Resource
Mirzaa, G.M.; Chong, J.X.; Piton, A.; Popp, B.; Foss, K.; Guo, Hui; Harripaul, R.; Xia, K.; Scheck, J.; Aldinger, K.A.; Sajan, S.A.; Tang, S.; Bonneau, D.; Beck, A.; White, J.; Mahida, S.; Harris, J.; Smith-Hicks, C.; Hoyer, J.; Zweier, C.; Reis, A.; Thiel, C.T.; Jamra, R.A.; Zeid, N.; Yang, A.; Farach, L.S.; Walsh, L.; Payne, K.; Rohena, L.; Velinov, M.; Ziegler, A.; Schaefer, E.; Gatinois, V.; Genevieve, D.; Simon, M.E.; Kohler, J.; Rotenberg, J.; Wheeler, P.; Larson, A.; Ernst, M.E.; Akman, C.I.; Westman, R.; Blanchet, P.; Schillaci, L.A.; Vincent-Delorme, C.; Gripp, K.W.; Mattioli, F.; Guyader, G.L.; Gerard, B.; Mathieu-Dramard, M.; Morin, G.; Sasanfar, R.; Ayub, M.; Vasli, N.; Yang, S.; Person, R.; Monaghan, K.G.; Nickerson, D.A.; Binsbergen, E. van; Enns, G.M.; Dries, A.M.; Rowe, L.J.; Tsai, A.C.; Svihovec, S.; Friedman, J.; Agha, Z.; Qamar, R.; Rodan, L.H.; Martinez-Agosto, J.; Ockeloen, C.W.; Vincent, M.; Sunderland, W.J.; Bernstein, J.A.; Eichler, E.E.; Vincent, J.B.; Bamshad, M.J.
Genetics in Medicine; 538; 546; 1098-3600; 3; 22; ~Genetics in Medicine~538~546~~~1098-3600~3~22~~
Academic Journal
Chassaing, N.; Causse, A.; Vigouroux, A.; Delahaye, A.; Alessandri, J.-L.; Boespflug-Tanguy, O.; Boute-Benejean, O.; Dollfus, H.; Duban-Bedu, B.; Gilbert-Dussardier, B.; Giuliano, F.; Gonzales, M.; Holder-Espinasse, M.; Isidor, B.; Jacquemont, M.-L.; Lacombe, D.; Martin-Coignard, D.; Mathieu-Dramard, M.; Odent, S.; Picone, O.; Pinson, L.; Quelin, C.; Sigaudy, S.; Toutain, A.; Thauvin-Robinet, C.; Kaplan, Josseline; Calvas, Patrick
Clinical Genetics. Oct 01, 2014 86(4):326-334
Academic Journal
Mirzaa, Ghayda M.; Chong, Jessica X.; Piton, Amelie; Popp, Bernt; Foss, Kimberly; Guo, Hui; Harripaul, Ricardo; Xia, Kun; Scheck, Joshua; Aldinger, Kimberly A.; Sajan, Samin A.; Tang, Sha; Bonneau, Dominique; Beck, Anita; White, Janson; Mahida, Sonal; Harris, Jacqueline; Smith-Hicks, Constance; Hoyer, Juliane; Zweier, Christiane; Reis, Andre; Thiel, Christian T.; Jamra, Rami Abou; Zeid, Natasha; Yang, Amy; Farach, Laura S.; Walsh, Laurence; Payne, Katelyn; Rohena, Luis; Velinov, Milen; Ziegler, Alban; Schaefer, Elise; Gatinois, Vincent; Genevieve, David; Simon, Marleen E. H.; Kohler, Jennefer; Rotenberg, Joshua; Wheeler, Patricia; Larson, Austin; Ernst, Michelle E.; Akman, Cigdem I.; Westman, Rachel; Blanchet, Patricia; Schillaci, Lori-Anne; Vincent-Delorme, Catherine; Gripp, Karen W.; Mattioli, Francesca; Guyader, Gwenael Le; Gerard, Benedicte; Mathieu-Dramard, Michele; Morin, Gilles; Sasanfar, Roksana; Ayub, Muhammad; Vasli, Nasim; Yang, Sandra; Person, Rick; Monaghan, Kristin G.; Nickerson, Deborah A.; van Binsbergen, Ellen; Enns, Gregory M.; Dries, Annika M.; Rowe, Leah J.; Tsai, Anne C. H.; Svihovec, Shayna; Friedman, Jennifer; Agha, Zehra; Qamar, Raheel; Rodan, Lance H.; Martinez-Agosto, Julian; Ockeloen, Charlotte W.; Vincent, Marie; Sunderland, William James; Bernstein, Jonathan A.; Eichler, Evan E.; Vincent, John B.; Bamshad, Michael J.; Undiagnosed Dis Network; UW-CMG
Academic Journal
Mirzaa, Ghayda M.; Chong, Jessica X.; Piton, Amelie; Popp, Bernt; Foss, Kimberly; Guo, Hui; Harripaul, Ricardo; Xia, Kun; Scheck, Joshua; Aldinger, Kimberly A.; Sajan, Samin A.; Tang, Sha; Bonneau, Dominique; Beck, Anita; White, Janson; Mahida, Sonal; Harris, Jacqueline; Smith-Hicks, Constance; Hoyer, Juliane; Zweier, Christiane; Reis, Andre; Thiel, Christian T.; Jamra, Rami Abou; Zeid, Natasha; Yang, Amy; Farach, Laura S.; Walsh, Laurence; Payne, Katelyn; Rohena, Luis; Velinov, Milen; Ziegler, Alban; Schaefer, Elise; Gatinois, Vincent; Genevieve, David; Simon, Marleen E. H.; Kohler, Jennefer; Rotenberg, Joshua; Wheeler, Patricia; Larson, Austin; Ernst, Michelle E.; Akman, Cigdem I.; Westman, Rachel; Blanchet, Patricia; Schillaci, Lori-Anne; Vincent-Delorme, Catherine; Gripp, Karen W.; Mattioli, Francesca; Guyader, Gwenael Le; Gerard, Benedicte; Mathieu-Dramard, Michele; Morin, Gilles; Sasanfar, Roksana; Ayub, Muhammad; Vasli, Nasim; Yang, Sandra; Person, Rick; Monaghan, Kristin G.; Nickerson, Deborah A.; van Binsbergen, Ellen; Enns, Gregory M.; Dries, Annika M.; Rowe, Leah J.; Tsai, Anne C. H.; Svihovec, Shayna; Friedman, Jennifer; Agha, Zehra; Qamar, Raheel; Rodan, Lance H.; Martinez-Agosto, Julian; Ockeloen, Charlotte W.; Vincent, Marie; Sunderland, William James; Bernstein, Jonathan A.; Eichler, Evan E.; Vincent, John B.; Bamshad, Michael J.; Undiagnosed Dis Network; UW-CMG
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