학술논문
'학술논문'
에서 검색결과 201건 | 목록
1~10
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
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
Husson, Thomas; Lecoquierre, François; Nicolas, Gaël; Richard, Anne-Claire; Afenjar, Alexandra; Audebert-Bellanger, Séverine; Badens, Catherine; Bilan, Frédéric; Bizaoui, Varoona; Boland, Anne; Bonnet-Dupeyron, Marie-Noëlle; Brischoux-Boucher, Elise; Bonnet, Céline; Bournez, Marie; Boute, Odile; Brunelle, Perrine; Caumes, Roseline; Charles, Perrine; Chassaing, Nicolas; Chatron, Nicolas; Cogné, Benjamin; Colin, Estelle; Cormier-Daire, Valérie; Dard, Rodolphe; Dauriat, Benjamin; Delanne, Julian; Deleuze, Jean-François; Demurger, Florence; Denommé-Pichon, Anne-Sophie; Depienne, Christel; Dieux, Anne; Dubourg, Christèle; Edery, Patrick; El Chehadeh, Salima; Faivre, Laurence; Fergelot, Patricia; Fradin, Mélanie; Garde, Aurore; Geneviève, David; Gilbert-Dussardier, Brigitte; Goizet, Cyril; Goldenberg, Alice; Gouy, Evan; Guerrot, Anne-Marie; Guimier, Anne; Harzalla, Inès; Héron, Delphine; Isidor, Bertrand; Lacombe, Didier; Le Guillou Horn, Xavier; Keren, Boris; Kuechler, Alma; Lacaze, Elodie; Lavillaureix, Alinoë; Lehalle, Daphné; Lesca, Gaëtan; Lespinasse, James; Levy, Jonathan; Lyonnet, Stanislas; Morel, Godeliève; Jean-Marçais, Nolwenn; Marlin, Sandrine; Marsili, Luisa; Mignot, Cyril; Nambot, Sophie; Nizon, Mathilde; Olaso, Robert; Pasquier, Laurent; Perrin, Laurine; Petit, Florence; Pingault, Veronique; Piton, Amélie; Prieur, Fabienne; Putoux, Audrey; Planes, Marc; Odent, Sylvie; Quélin, Chloé; Quemener-Redon, Sylvia; Rama, Mélanie; Rio, Marlène; Rossi, Massimiliano; Schaefer, Elise; Rondeau, Sophie; Saugier-Veber, Pascale; Smol, Thomas; Sigaudy, Sabine; Touraine, Renaud; Mau-Them, Frederic Tran; Trimouille, Aurélien; Van Gils, Julien; Vanlerberghe, Clémence; Vantalon, Valérie; Vera, Gabriella; Vincent, Marie; Ziegler, Alban; Guillin, Olivier; Campion, Dominique; Charbonnier, Camille
European Journal of Human Genetics. 32(2):190-199
Academic Journal
Angius, Andrea; Baker, Janice A.; Bedoukian, Emma; Bhambhani, Vikas; Bodamer, Olaf; O’Brien, Alan; Clayton-Smith, Jill; Crisponi, Laura; Cueto González, Anna María; the DDD study; Devriendt, Koenraad; Garrido, Elena Dominguez; Ehmke, Nadja; van Eerde, Albertien; van den Elzen, Annette P.M.; Faivre, Laurence; Fisher, Laura; Flores-Daboub, Josue A.; Foster, Alison; Friedman, Jennifer; Gabau, Elisabeth; Galazzi, Elena; García-Miñaúr, Sixto; Garavelli, Livia; Gardeitchik, Thatjana; Gerkes, Erica H.; van Gils, Julien; Giltay, Jacques C.; Garcia, Aixa Gonzalez; Heimdal, Ketil Riddervold; Horn, Denise; Houge, Gunnar; Hufnagel, Sophia B.; Ilencikova, Denisa; Julia, Sophie; Kant, Sarina G.; Kinning, Esther; Klee, Eric W.; Kois, Chelsea; Kovačević, Maja; Lachmeijer, A.M.A. (Guus); Lanpher, Brendan; Lebrun, Marine; Leon, Eyby; Lichty, Angie Ward; Lin, Ruth; Llano-Rivas, Isabel; Lynch, Sally Ann; Maas, Saskia M.; Maitz, Silvia B.; McKee, Shane; Melis, Daniela; Merati, Elisabetta; Merla, Giuseppe; Newbury-Ecob, Ruth; Nizon, Mathilde; Park, Soo-Mi; Patterson, Jennifer; Petit, Florence; Peeters, Hilde; Persani, Luca; Persico, Ivana; Pes, Valentina; Pollazzon, Marzia; Potjer, Thomas; Potocki, Lorraine; Pottinger, Carrie; Prasad, Chitra; Prijoles, Eloise J.; Ragge, Nicola K.; Rake, Jan Peter; van Ravenswaaij-Arts, Conny M.A.; Rea, Gillian; Ruivenkamp, Claudia; Rutz, Audrey; Saitta, Sulagna C.; Russo, Rossana Sanchez; Santen, Gijs W.E.; Schaefer, Elise; Shashi, Vandana; Schultz-Rogers, Laura; Sluga, Andrea; Sotgiu, Stefano; Steichen-Gersdorf, Elisabeth; Sullivan, Jennifer A.; Sun, Yu; Suri, Mohnish; Tartaglia, Marco; Tedder, Matt; Terhal, Paulien; Tully, Ian; Verbeek, Nienke; Wenzel, Maren; White, Susan M.; Xiao, Bing; Haghshenas, Sadegheh; Bout, Hidde J.; Schijns, Josephine M.; Levy, Michael A.; Kerkhof, Jennifer; Bhai, Pratibha; McConkey, Haley; Jenkins, Zandra A.; Williams, Ella M.; Halliday, Benjamin J.; Huisman, Sylvia A.; Lauffer, Peter; de Waard, Vivian; Witteveen, Laura; Banka, Siddharth; Brady, Angela F.; Hurst, Anna C.E.; Kaiser, Frank J.; Lacombe, Didier; Martinez-Monseny, Antonio F.; Fergelot, Patricia; Monteiro, Fabíola P.; Parenti, Ilaria; Santos-Simarro, Fernando; Simpson, Brittany N.; Alders, Mariëlle; Robertson, Stephen P.; Sadikovic, Bekim; Menke, Leonie A.
In Human Genetics and Genomics Advances 18 July 2024 5(3)
Academic Journal
Adamo-Croux, Marie; Auger-Gilli, Adriane; Guyader, Gwenaël Le; Aubin-Courjault, Juliette; Margot, Henri; Bar, Claire; Lacombe, Didier; Van-Gils, Julien; Legendre, Marine; Binet, Aurélien; Horn, Xavier Le Guillou
In Archives de pédiatrie July 2024 31(5):320-325
Academic Journal
Sabbagh, Quentin; Haghshenas, Sadegheh; Piard, Juliette; Trouvé, Chloé; Amiel, Jeanne; Attié-Bitach, Tania; Balci, Tugce; Barat-Houari, Mouna; Belonis, Alyce; Boute, Odile; Brightman, Diana S.; Bruel, Ange-Line; Caraffi, Stefano Giuseppe; Chatron, Nicolas; Collet, Corinne; Dufour, William; Edery, Patrick; Fong, Chin-To; Fusco, Carlo; Gatinois, Vincent; Gouy, Evan; Guerrot, Anne-Marie; Heide, Solveig; Joshi, Aakash; Karp, Natalya; Keren, Boris; Lesieur-Sebellin, Marion; Levy, Jonathan; Levy, Michael A.; Lozano, Claire; Lyonnet, Stanislas; Margot, Henri; Marzin, Pauline; McConkey, Haley; Michaud, Vincent; Nicolas, Gaël; Nizard, Mevyn; Paulet, Alix; Peluso, Francesca; Pernin, Vincent; Perrin, Laurence; Philippe, Christophe; Prasad, Chitra; Prasad, Madhavi; Relator, Raissa; Rio, Marlène; Rondeau, Sophie; Ruault, Valentin; Ruiz-Pallares, Nathalie; Sanchez, Elodie; Shears, Debbie; Siu, Victoria Mok; Sorlin, Arthur; Tedder, Matthew; Tharreau, Mylène; Mau-Them, Frédéric Tran; van der Laan, Liselot; Van Gils, Julien; Verloes, Alain; Whalen, Sandra; Willems, Marjolaine; Yauy, Kévin; Zuntini, Roberta; Kerkhof, Jennifer; Sadikovic, Bekim; Geneviève, David
In Genetics in Medicine January 2024 26(1)
Academic Journal
Charpie, Maelle; Brunelle, Perrine; Baujat, Genevieve; Michot, Caroline; Van Gils, Julien; Leheup, Bruno; Schaefer, Elise; Koumakis, Eugenie; Pejin, Zagorka; Pinto, Graziella; Monnot, Sophie; Cormier-Daire, Valerie
Academic Journal
Frédéric Tran Mau-Them; Alexis Overs; Ange-Line Bruel; Romain Duquet; Mylene Thareau; Anne-Sophie Denommé-Pichon; Antonio Vitobello; Arthur Sorlin; Hana Safraou; Sophie Nambot; Julian Delanne; Sebastien Moutton; Caroline Racine; Camille Engel; Melchior De Giraud d’Agay; Daphne Lehalle; Alice Goldenberg; Marjolaine Willems; Christine Coubes; David Genevieve; Alain Verloes; Yline Capri; Laurence Perrin; Marie-Line Jacquemont; Laetitia Lambert; Elodie Lacaze; Julien Thevenon; Nadine Hana; Julien Van-Gils; Charlotte Dubucs; Varoona Bizaoui; Marion Gerard-Blanluet; James Lespinasse; Sandra Mercier; Anne-Marie Guerrot; Isabelle Maystadt; Emilie Tisserant; Laurence Faivre; Christophe Philippe; Yannis Duffourd; Christel Thauvin-Robinet
Frontiers in Genetics, Vol 14 (2023)
Academic Journal
Denommé-Pichon, Anne-Sophie; Vitobello, Antonio; Olaso, Robert; Ziegler, Alban; Jeanne, Médéric; Tran Mau-Them, Frédéric; Couturier, Victor; Racine, Caroline; Isidor, Bertrand; Poë, Charlotte; Jouan, Thibaud; Boland, Anne; Fin, Bertrand; Bacq-Daian, Delphine; Besse, Céline; Garde, Aurore; Prost, Adeline; Garret, Philippine; Tisserant, Émilie; Delanne, Julian; Nambot, Sophie; Juven, Aurélien; Gorce, Magali; Nizon, Mathilde; Vincent, Marie; Moutton, Sébastien; Fradin, Mélanie; Lavillaureix, Alinoë; Rollier, Paul; Capri, Yline; Van-Gils, Julien; Busa, Tiffany; Sigaudy, Sabine; Pasquier, Laurent; Barth, Magalie; Bruel, Ange-Line; Flamant, Cyril; Prouteau, Clément; Bonneau, Dominique; Toutain, Annick; Chantegret, Corinne; Callier, Patrick; Philippe, Christophe; Duffourd, Yannis; Deleuze, Jean-François; Sorlin, Arthur; Faivre, Laurence; Thauvin-Robinet, Christel
European Journal of Human Genetics. 30(5):567-576
Academic Journal
Brinkkemper, Mitch; Veth, Tim S.; Brouwer, Philip J.M.; Turner, Hannah; Poniman, Meliawati; Burger, Judith A.; Bouhuijs, Joey H.; Olijhoek, Wouter; Bontjer, Ilja; Snitselaar, Jonne L.; Caniels, Tom G.; van der Linden, Cynthia A.; Ravichandran, Rashmi; Villaudy, Julien; van der Velden, Yme U.; Sliepen, Kwinten; van Gils, Marit J.; Ward, Andrew B.; King, Neil P.; Heck, Albert J.R.; Sanders, Rogier W.
In iScience 22 December 2022 25(12)
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