학술논문
'학술논문'
에서 검색결과 2,583건 | 목록
1~10
Academic Journal
Paulet, Alix; Bennett-Ness, Cavan; Ageorges, Faustine; Trost, Detlef; Green, Andrew; Goudie, David; Jewell, Rosalyn; Kraatari-Tiri, Minna; PIARD, Juliette; Coubes, Christine; Lam, Wayne; Lynch, Sally Ann; Groeschel, Samuel; Ramond, Francis; Fluss, Joël; Fagerberg, Christina; Brasch Andersen, Charlotte; Varvagiannis, Konstantinos; Kleefstra, Tjitske; Gérard, Bénédicte; Fradin, Mélanie; Vitobello, Antonio; Tenconi, Romano; Denommé-Pichon, Anne-Sophie; Vincent-Devulder, Aline; Haack, Tobias; Marsh, Joseph A; Laulund, Lone Walentin; Grimmel, Mona; Riess, Angelika; de Boer, Elke; Padilla-Lopez, Sergio; Bakhtiari, Somayeh; Ostendorf, Adam; Zweier, Christiane; Smol, Thomas; Willems, Marjolaine; Faivre, Laurence; Scala, Marcello; Striano, Pasquale; Bagnasco, Irene; Koboldt, Daniel; Iascone, Maria; Suerink, Manon; Kruer, Michael C; Levy, Jonathan; Verloes, Alain; Abbott, Catherine M; Ruaud, Lyse
European Journal of Human Genetics. 32(9):1144-1149
Academic Journal
Ellwanger, Kornelia; Brill, Julie A.; de Boer, Elke; Efthymiou, Stephanie; Elgersma, Ype; Icmat, Marynelle; Lecoquierre, François; Lobato, Amanda G.; Morleo, Manuela; Ori, Michela; Schaffer, Ashleigh E.; Vitobello, Antonio; Wells, Sara; Yalcin, Binnaz; Zhai, R. Grace; Sturm, Marc; Zurek, Birte; Graessner, Holm; Bermejo-Sánchez, Eva; Evangelista, Teresinha; Hoogerbrugge, Nicoline; Nigro, Vincenzo; Schüle, Rebecca; Verloes, Alain; Brunner, Han; Campeau, Philippe M.; Lasko, Paul; Riess, Olaf
Lab Animal. 53(7):161-165
Academic Journal
Boudet-Berquier, Julie; Demattei, Christophe; Guldner, Laurence; Gallay, Anne; Manouvrier, Sylvie; Botton, Jérémie; Philippat, Claire; Delva, Fleur; Bloch, Juliette; Semaille, Caroline; Odent, Sylvie; Perthus, Isabelle; Randrianaivo, Hanitra; Babajko, Sylvie; Barjat, Tiphaine; Beneteau, Claire; Brennetot, Naima; Garne, Ester; Haddad, Georges; Hocine, Mounia; Lacroix, Isabelle; Leuraud, Klervi; Mench, Michel; Morris, Joan; Patrier, Sophie; Sartelet, Arnaud; Verloes, Alain; Bonaldi, Christophe; Le Barbier, Mélina; Gagnière, Bertrand; Pépin, Philippe; Ollivier, Ronan; Bitoun, Monique; King, Lisa; Guajardo-Villar, Andrea; Gomes, Eugenia; Desenclos, Jean-Claude; Regnault, Nolwenn; Benachi, Alexandra
European Journal of Epidemiology. 39(7):753-771
Academic Journal
Jana Willim; Daniel Woike; Daniel Greene; Sarada Das; Kevin Pfeifer; Weimin Yuan; Anika Lindsey; Omar Itani; Amber L. Böhme; Debora Tibbe; Hans-Hinrich Hönck; Fatemeh Hassani Nia; Undiagnosed Diseases Network; Michael Zech; Theresa Brunet; Laurence Faivre; Arthur Sorlin; Antonio Vitobello; Thomas Smol; Cindy Colson; Kristin Baranano; Krista Schatz; Allan Bayat; Kelly Schoch; Rebecca Spillmann; Erica E. Davis; Erin Conboy; Francesco Vetrini; Konrad Platzer; Sonja Neuser; Janina Gburek-Augustat; Alexandra Noel Grace; Bailey Mitchell; Alexander Stegmann; Margje Sinnema; Naomi Meeks; Carol Saunders; Maxime Cadieux-Dion; Juliane Hoyer; Julien Van-Gils; Jean-Madeleine de Sainte-Agathe; Michelle L. Thompson; E. Martina Bebin; Monika Weisz-Hubshman; Anne-Claude Tabet; Alain Verloes; Jonathan Levy; Xenia Latypova; Sönke Harder; Gary A. Silverman; Stephen C. Pak; Tim Schedl; Kathleen Freson; Andrew Mumford; Ernest Turro; Christian Schlein; Vandana Shashi; Hans-Jürgen Kreienkamp
Nature Communications, Vol 15, Iss 1, Pp 1-18 (2024)
Academic Journal
de Boer, E; Ockeloen, CW; Matalonga, L; Horvath, R; Rodenburg, RJ; Coenen, MJH; Janssen, M; Henssen, D; Gilissen, C; Steyaert, W; Paramonov, I; Trimouille, A; Kleefstra, T; Verloes, A; Vissers, LELM
European journal of human genetics : EJHG. 29(9):1359-1368
Academic Journal
Willim, Jana; Woike, Daniel; Greene, Daniel; Das, Sarada; Pfeifer, Kevin; Yuan, Weimin; Lindsey, Anika; Itani, Omar; Böhme, Amber L.; Tibbe, Debora; Hönck, Hans-Hinrich; Hassani Nia, Fatemeh; Zech, Michael; Brunet, Theresa; Faivre, Laurence; Sorlin, Arthur; Vitobello, Antonio; Smol, Thomas; Colson, Cindy; Baranano, Kristin; Schatz, Krista; Bayat, Allan; Schoch, Kelly; Spillmann, Rebecca; Davis, Erica E.; Conboy, Erin; Vetrini, Francesco; Platzer, Konrad; Neuser, Sonja; Gburek-Augustat, Janina; Grace, Alexandra Noel; Mitchell, Bailey; Stegmann, Alexander; Sinnema, Margje; Meeks, Naomi; Saunders, Carol; Cadieux-Dion, Maxime; Hoyer, Juliane; Van-Gils, Julien; de Sainte-Agathe, Jean-Madeleine; Thompson, Michelle L.; Bebin, E. Martina; Weisz-Hubshman, Monika; Tabet, Anne-Claude; Verloes, Alain; Levy, Jonathan; Latypova, Xenia; Harder, Sönke; Silverman, Gary A.; Pak, Stephen C.; Schedl, Tim; Freson, Kathleen; Mumford, Andrew; Turro, Ernest; Schlein, Christian; Shashi, Vandana; Kreienkamp, Hans-Jürgen
Nature Communications. 15(1)
Academic Journal
Paulet, Alix; Bennett-Ness, Cavan; Ageorges, Faustine; Trost, Detlef; Green, Andrew; Goudie, David; Jewell, Rosalyn; Kraatari-Tiri, Minna; PIARD, Juliette; Coubes, Christine; Lam, Wayne; Lynch, Sally Ann; Groeschel, Samuel; Ramond, Francis; Fluss, Joël; Fagerberg, Christina; Brasch Andersen, Charlotte; Varvagiannis, Konstantinos; Kleefstra, Tjitske; Gérard, Bénédicte; Fradin, Mélanie; Vitobello, Antonio; Tenconi, Romano; Denommé-Pichon, Anne-Sophie; Vincent-Devulder, Aline; Haack, Tobias; Marsh, Joseph A; Laulund, Lone Walentin; Grimmel, Mona; Riess, Angelika; de Boer, Elke; Padilla-Lopez, Sergio; Bakhtiari, Somayeh; Ostendorf, Adam; Zweier, Christiane; Smol, Thomas; Willems, Marjolaine; Faivre, Laurence; Scala, Marcello; Striano, Pasquale; Bagnasco, Irene; Koboldt, Daniel; Iascone, Maria; Suerink, Manon; Kruer, Michael C; Levy, Jonathan; Verloes, Alain; Abbott, Catherine M; Ruaud, Lyse
European Journal of Human Genetics. 32(9):1191-1191
Academic Journal
Adams, David R.; van Karnebeek, Clara D.M.; Agulló, Sergi Beltran; Faùndes, Víctor; Jamuar, Saumya Shekhar; Lynch, Sally Ann; Pintos-Morell, Guillem; Puri, Ratna Dua; Shai, Ruty; Steward, Charles A.; Tumiene, Biruté; Verloes, Alain
In European Journal of Medical Genetics August 2024 70
Academic Journal
Sideropoulos, V; Van Herwegen, J; Meuleman, B; Alessandri, M; Alnemary, FM; Rad, JA; Lavenex, PAB; Bolshakov, N; Bolte, S; Buffle, P; Cai, RY; Campos, R; Chirita-Emandi, A; Costa, AP; Costanzo, F; Des Portes, V; Dukes, D; Faivre, L; Famelart, N; Fisher, MH; Gamaiunova, L; Giannadou, A; Gupta, R; Hardan, AY; Houdayer-Robert, F; Hrncirova, L; Iaochite, RT; Jariabkova, K; Klein-Tasman, BP; Lavenex, P; Malik, S; Mari, F; Martinez-Castilla, P; Menghini, D; Nuske, HJ; Palikara, O; Papon, A; Pegg, RS; Pouretemad, H; Poustka, L; Prosetzky, I; Renieri, A; Rhodes, SM; Riby, DM; Rossi, M; Sadeghi, S; Su, XY; Tai, CR; Tran, M; Tynan, F; Uljarevic, M; Hecke, AVV; Veiga, G; Verloes, A; Vicari, S; Werneck-Rohrer, SG; Zander, E; Samson, AC
Journal of global health. 13:04081
A second look at exome sequencing data: detecting mobile elements insertion in a rare disease cohort
Academic Journal
Garret, Philippine; Chevarin, Martin; Vitobello, Antonio; Verdez, Simon; Fournier, Cyril; Verloes, Alain; Tisserant, Emilie; Vabres, Pierre; Prevel, Orlane; Philippe, Christophe; Denommé-Pichon, Anne-Sophie; Bruel, Ange-Line; Mau-Them, Frédéric Tran; Safraou, Hana; Boughalem, Aïcha; Costa, Jean-Marc; Trost, Detlef; Thauvin-Robinet, Christel; Faivre, Laurence; Duffourd, Yannis
European Journal of Human Genetics. 31(7):761-768
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