학술논문
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'학술논문'
에서 검색결과 61건 | 목록
1~20
Academic Journal
El Chehadeh, Salima; Heide, Solveig; Quélin, Chloé; Rio, Marlène; Margot, Henri; Geneviève, David; Isidor, Bertrand; Goldenberg, Alice; Guégan, Caroline; Lesca, Gaëtan; Willems, Marjolaine; Ormières, Clothilde; Caumes, Roseline; Busa, Tiffany; Bonneau, Dominique; Guerrot, Anne-Marie; Marey, Isabelle; Vera, Gabriella; Marzin, Pauline; Philippe, Anaïs; Garde, Aurore; Coubes, Christine; Vincent, Marie; Michaud, Vincent; Mignot, Cyril; Charles, Perrine; Sigaudy, Sabine; Edery, Patrick; Lacombe, Didier; Boland, Anne; Nowak, Frédérique; Bouctot, Marion; Humbert-Asensio, Marie-Laure; Simon, Alban; Chennen, Kirsley; Sabour, Niki; Delmas, Christelle; Nicolas, Gaël; Saugier-Veber, Pascale; Lecoquierre, François; Cassinari, Kévin; Keren, Boris; Courtin, Thomas; De Sainte Agathe, Jean-Madeleine; Malan, Valérie; Barcia, Giulia; Tran Mau-Them, Frédéric; Safraou, Hana; Philippe, Christophe; Thévenon, Julien; Chatron, Nicolas; Januel, Louis; Piton, Amélie; Haushalter, Virginie; Gérard, Bénédicte; Lejeune, Catherine; Faivre, Laurence; Sanlaville, Damien; Héron, Delphine; Odent, Sylvie; Nitschké, Patrick; Schluth-Bolard, Caroline; Lyonnet, Stanislas; Deleuze, Jean-François; Binquet, Christine; Dollfus, Hélène; Barth, Magalie; Colin, Estelle; Halleb, Yosra; Houdayer, Clara; Prouteau, Clément; Tessarech, Marine; Ziegler, Alban; Angelini, Chloé; Baudier, Marie-Pierre; Britel, Meryem; Bronnec, Noémie; Deiber, Clémence; Dorian, Virginie; Gaudry, Juliette; Goizet, Cyril; Hairech, Nawel; Hasnaoui, Ouidad; Laurent, Manon; Legendre, Marine; Naudion, Sophie; Ngom, Ndeye-Fatou; Thambo, Caroline Rooryck; Van Gils, Julien; Zordan, Cécile; Borel, Myriam; Briffaut, Anne-Sophie; Viard, Charley Robert; Bacq-Daian, Delphine; Besse, Celine; Fin, Bertrand; Meyer, Vincent; Moutet, Marie-Laure; Olaso, Robert; Sandron, Florian; Turon, Violette; Bernard, Celine; Bournez, Marie; Bruel, Ange-Line; Viora-Dupont, Eleonore; Delanne, Julian; Denommé-Pichon, Anne-Sophie; Duffourd, Yannis; Duquet, Romain; Espitalier, Aurelie; Fauconnier-Fatus, Clemence; Nambot, Sophie; Petiot, Aurore; Pillay, Victor; Poe, Charlotte; Soto, Melodie; Thauvin, Christel; Tharreau, Mylene; Vitobello, Antonio; Gauthier, Marjolaine; Nguyen Morel, Marie-Ange; Nugues, Frederique; Wyrebski, Antoine; Dieterich, Klaus; Le Tanno, Pauline; Bellengier, Laurence; Boute, Odile; Colson, Cindy; Dieux, Anne; Ghoumid, Jamal; Marsili, Luisa; Petit, Florence; Rubeck, Coralie; Vanlerberghe, Clemence; Vincent-Delorme, Catherine; Rougeot-Jung, Christelle; Curie, Aurore; des Portes, Vincent; Goutte, Sylvie; Haye, Damien; Labalme, Audrey; Monin, Pauline; Till, Marianne; Armand, Thibaud; Reversat, Julie; Robert, Françoise; Berthiot, Amelie; Colard, Marion; El Amrani-El Idrissi, Lamia; Francois, Tiphaine; George, Haymanot; Saidi, Manel; Rendja, Karima; Triguel, Iracema; Bardel, Claire; Rollat-Farnier, Pierre Antoine; Putoux, Audrey; Rossi, Massimiliano; Pons, Linda; Consolino, Emilie; Glazunova, Olga; Mallet, Audrey; Philip-Sarles, Nicole; Riccardi, Florence; Seror, Valerie; Beltram, Severine; Cerret, Florent; Crantelle, Laura; Khalil, Mirna; Blanchet, Patricia; Deiller, Caroline; Haquet, Emmanuelle; Pinson, Lucile; Wells, Constance; Guillemin, Francis; Conrad, Solene; Guyon, Laura; Mercier, Sandra; Nizon, Mathilde; Voisine, Annastasia; Abdallah, Kahina; Amiel, Jeanne; Baujat, Genevieve; Bhia, Wiam; Bonnefont, Jean-Paul; Cormier-Daire, Valerie; De Nadai, Narimene; Florentino, Valeria; Gouvenot, Kelly; Guimier, Anne; Abdallah, Hamza Hadj; Jeannette, Jerome; Marlin, Sandrine; Masson, Cecile; Michot, Caroline; Peroni, Lea; Romana, Serge; Afenjar, Alexandra; Burglen, Lydie; Whalen, Sandra; Buratti, Julien; Leguern, Eric; Faudet, Anne; Gerasimenko, Anna; Moukossi-Mouelle, Caroline; Mouthon, Linda; Pellen, Anne-Sophie; Staraci, Stephanie; Lehalle, Daphne; Esperou, Helene; Le Mestre, Soizic; Levy-Marchal, Claire; Carre, Wilfrid; De Tayrac, Marie; Dubourg, Christele; Fournier, Chloé; Akloul, Linda; Fradin, Melanie; Jean-Marcais, Nolwenn; Lavillaureix, Alinoë; Morel, Godelieve; Pasquier, Laurent; Poirel, Elisabeth; Riou, Audrey; Rollier, Paul; Brehin, Anne-Claire; Chambon, Pascal; Gonde, Delphine; Joly-Helas, Geraldine; Calmels, Nadege; Cuny, Celine; Feger, Claire; Durand, Benjamin; Goetz, Nathalie; Maillard, Pierre-Yves; Monduc, Sophie; Schaefer, Elise; Scheidecker, Sophie; Muller, Jean; Piton, Amelie
Genome Medicine. October 3, 2025, Vol. 17 Issue 1
Academic Journal
Buffet, Alexandre ; Filser, Mathilde ; Bruel, Alexandra ; Dard, Rodolphe ; Quibel, Thibaud ; Dubucs, Charlotte ; Kwon, Theresa ; Le Tanno, Pauline ; Thevenon, Julien ; Ziegler, Alban ; Allard, Lise ; Guigonis, Vincent ; Roux, Jean-Jacques ; Heidet, Laurence ; Rougeulle, Claire ; Boyer, Olivia ; Vargas-Poussou, Rosa ; Hureaux, Marguerite
In Genetics in Medicine July 2024
Academic Journal
Le Tanno, Pauline; Latypova, Xenia; Rendu, John; Fauré, Julien; Bourg, Véronique; Gauthier, Marjolaine; Billy-Lopez, Gipsy; Jouk, Pierre-Simon; Dieterich, Klaus
Journal of Medical Genetics. 60:13-24
Academic Journal
Tolchin, Dara; Yeager, Jessica; Prasad, Priya; Dorrani, Naghmeh; Russi, Alvaro Serrano; Martinez-Agosto, Julian; Haseeb, Abdul; Angelozzi, Marco; Santen, G.W.E.; Ruivenkamp, Claudia; Mercimek-Andrews, Saadet; Depienne, Christel; Kuechler, Alma; Mikat, Barbara; Ludecke, Hermann-Josef; Bilan, Frederic; Le Guyader, Gwenael; Gilbert-Dussardier, Brigitte; Keren, Boris; Heide, Solveig; Haye, Damien; van Esch, Hilde; Keldermans, Liesbeth; Ortiz, Damara; Lancaster, Emily; Krantz, Ian; Krock, Bryan; Pechter, Kieran; Arkader, Alexandre; Medne, Livija; Dechene, Elizabeth; Calpena, Eduardo; Melistaccio, Giada; Wilkie, Andrew O.M.; Suri, Mohnish; Foulds, Nicola; Begtrup, Amber; Henderson, Lindsay; Forster, Cara; Reed, Patrick; Mcdonald, Marie; Mcconkie-Rosell, Allyn; Thevenon, Julien; Le Tanno, Pauline; Coutton, Charles; Tsai, Anne C.H.; Stewart, Sarah; Maver, Ales; Gorazd, Rudolf; Pichon, Olivier; Nizon, Mathilde; Cogné, Benjamin; Isidor, Bertrand; Martin-Coignard, Dominique; Stoeva, Radka; Lefebvre, Véronique; Le Caignec, Cédric; Ambrose, J.C.; Bleda, M.; Boardman-Pretty, F.; Boissiere, J.M.; Boustred, C.R.; Caulfield, M.J.; Chan, G.C.; Craig, C.E.H.; Daugherty, L.C.; de Burca, A.; Devereau, A.; Elgar, G.; Foulger, R.E.; Fowler, T.; Furió-Tarí, P.; Hackett, J.M.; Halai, D.; Holman, J.E.; Hubbard, T.J.P.; Kasperaviciute, D.; Kayikci, M.; Lahnstein, L.; Lawson, K.; Leigh, S.E.A.; Leong, I.U.S.; Lopez, F.J.; Maleady-Crowe, F.; Mason, J.; Mcdonagh, E.M.; Moutsianas, L.; Mueller, M.; Need, A.C.; Odhams, C.A.; Patch, C.; Perez-Gil, D.; Polychronopoulos, D.; Pullinger, J.; Rahim, T.; Rendon, A.; Rogers, T.; Ryten, M.; Savage, K.; Scott, R.H.; Siddiq, A.; Sieghart, A.; Smedley, D.; Smith, K.R.; Sosinsky, A.; Spooner, W.; Stevens, H.E.; Stuckey, A.; Thomas, E.R.A.; Thompson, S.R.; Tregidgo, C.; Tucci, A.; Walsh, E.; Watters, S.A.; Welland, M.J.; Williams, E.; Witkowska, K.; Wood, S.M.; Zarowiecki, M.
The American Journal of Human Genetics. 106:830-845
Academic Journal
Santini, Amandine; Tognon, Angelo; Velasco, Guillaume; Marzin, Pauline; Michot, Caroline; Chirita-Emandi, Adela; Saraiva, Jorge M.; Ballesta-Martinez, Maria Juliana; Lyonnet, Stanislas; Sansovic, Ivona; Barakat, Tahsin Stefan; Ghoumid, Jamal; Brunelle, Perrine; Le Guilloux, Xavier; Le Tanno, Pauline; Willems, Marjolaine; Zenker, Martin; Moortgat, Stephanie; Isidor, Bertrand; Herenger, Yvan; Defrance, Matthieu; Cormier-Daire, Valerie; Charbonnier, Camille; de Dieuleveult, Maud
Academic Journal
Frontiers in Pediatrics, Vol 9 (2022)
Academic Journal
Kherraf, Zine-Eddine; Amiri-Yekta, Amir; Dacheux, Denis; Karaouzène, Thomas; Coutton, Charles; Christou-Kent, Marie; Martinez, Guillaume; Landrein, Nicolas; Le Tanno, Pauline; Fourati Ben Mustapha, Selima; Halouani, Lazhar; Ouafi, Marrakchi; Makni, Mounir; Latrous, Habib; Kharouf, Mahmoud; Pernet-Gallay, Karine; Gourabi, Hamid; Robinson, Derrick R; Crouzy, Serge; Blum, Michael; Thierry-Mieg, Nicolas; Touré, Aminata; Zouari, Raoudha; Arnoult, Christophe; Bonhivers, Melanie; Ray, Pierre F.
The American Journal of Human Genetics. 103:400-412
Academic Journal
Pauline Le Tanno; Mathilde Folacci; Jean Revilloud; Laurence Faivre; Gabriel Laurent; Lucile Pinson; Pascal Amedro; Gilles Millat; Alexandre Janin; Michel Vivaudou; Nathalie Roux-Buisson; Julien Fauré
Frontiers in Genetics, Vol 12 (2021)
Academic Journal
Cappuccio, Gerarda ; Sayou, Camille ; Tanno, Pauline Le ; Tisserant, Emilie ; Bruel, Ange-Line ; Kennani, Sara El ; Sá, Joaquim ; Low, Karen J. ; Dias, Cristina ; Havlovicová, Markéta ; Hančárová, Miroslava ; Eichler, Evan E. ; Devillard, Françoise ; Moutton, Sébastien ; Van-Gils, Julien ; Dubourg, Christèle ; Odent, Sylvie ; Gerard, Bénédicte ; Piton, Amélie ; Yamamoto, Toshiyuki ; Okamoto, Nobuhiko ; Firth, Helen ; Metcalfe, Kay ; Moh, Anna ; Chapman, Kimberly A. ; Aref-Eshghi, Erfan ; Kerkhof, Jennifer ; Torella, Annalaura ; Nigro, Vincenzo ; Perrin, Laurence ; Piard, Juliette ; Le Guyader, Gwenaël ; Jouan, Thibaud ; Thauvin-Robinet, Christel ; Duffourd, Yannis ; George-Abraham, Jaya K. ; Buchanan, Catherine A. ; Williams, Denise ; Kini, Usha ; Wilson, Kate ; Brunetti-Pierri, Nicola ; Casari, Giorgio ; Pinelli, Michele ; Musacchia, Francesco ; Mutarelli, Margherita ; Carrella, Diego ; Vitiello, Giuseppina ; Capra, Valeria ; Parenti, Giancarlo ; Leuzzi, Vincenzo ; Selicorni, Angelo ; Maitz, Silvia ; Banfi, Sandro ; Zollino, Marcella ; Montomoli, Mario ; Milani, Donatelli ; Romano, Corrado ; Tummolo, Albina ; De Brasi, Daniele ; Coppola, Antonietta ; Santoro, Claudia ; Peron, Angela ; Pantaleoni, Chiara ; Castello, Raffaele ; D’Arrigo, Stefano ; Sousa, Sérgio B. ; Hennekam, Raoul C.M. ; Sadikovic, Bekim ; Thevenon, Julien ; Govin, Jérôme ; Vitobello, Antonio
In Genetics in Medicine November 2020 22(11):1838-1850
Academic Journal
Coudert, Alicia; Thevenon, Julien; Testard, Quentin; Satre, Veronique; Harbuz, Radu; Bouvagnet, Patrice; Rabattu, Pierre-Yves; Coutton, Charles; Le Tanno, Pauline
Academic Journal
Le Tanno, Pauline; Breton, Julie; Bidart, Marie; Satre, Véronique; Harbuz, Radu; Ray, Pierre F; Bosson, Caroline; Dieterich, Klaus; Jaillard, Sylvie; Odent, Sylvie; Poke, Gemma; Beddow, Rachel; Digilio, Maria Christina; Novelli, Antonio; Bernardini, Laura; Pisanti, Maria Antonietta; Mackenroth, Luisa; Hackmann, Karl; Vogel, Ida; Christensen, Rikke; Fokstuen, Siv; Béna, Frédérique; Amblard, Florence; Devillard, Francoise; Vieville, Gaelle; Apostolou, Alexia; Jouk, Pierre-Simon; Guebre-Egziabher, Fitsum; Sartelet, Hervé; Coutton, Charles
Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human
Academic Journal
Charles Coutton; Alexandra S. Vargas; Amir Amiri-Yekta; Zine-Eddine Kherraf; Selima Fourati Ben Mustapha; Pauline Le Tanno; Clémentine Wambergue-Legrand; Thomas Karaouzène; Guillaume Martinez; Serge Crouzy; Abbas Daneshipour; Seyedeh Hanieh Hosseini; Valérie Mitchell; Lazhar Halouani; Ouafi Marrakchi; Mounir Makni; Habib Latrous; Mahmoud Kharouf; Jean-François Deleuze; Anne Boland; Sylviane Hennebicq; Véronique Satre; Pierre-Simon Jouk; Nicolas Thierry-Mieg; Beatrice Conne; Denis Dacheux; Nicolas Landrein; Alain Schmitt; Laurence Stouvenel; Patrick Lorès; Elma El Khouri; Serge P. Bottari; Julien Fauré; Jean-Philippe Wolf; Karin Pernet-Gallay; Jessica Escoffier; Hamid Gourabi; Derrick R. Robinson; Serge Nef; Emmanuel Dulioust; Raoudha Zouari; Mélanie Bonhivers; Aminata Touré; Christophe Arnoult; Pierre F. Ray
Nature Communications, Vol 9, Iss 1, Pp 1-18 (2018)
Academic Journal
Amandine Santini; Angelo Tognon; Anne-Claire Richard; Guillaume Velasco; Gilles Phan; Pauline Marzin; Fabien Maury; Angèle May; Caroline Michot; Adela Chirita-Emandi; Jorge Saraiva; Maria Juliana Ballesta Martinez; Stanislas Lyonnet; Ivona Sansović; Tahsin Stefan Barakat; Perrine Brunelle; Jamal Ghoumid; Xavier Le Guillou; Pauline Le Tanno; Marjolaine Willems; Martin Zenker; Ina Schanze; Stephanie Moortgat; Bertrand Isidor; Paul Rollier; Anne-Marie Guerrot; Nicolas Chatron; Florence Demurger; Alice Goldenberg; Julian Delanne; Laurence Faivre; Gael Nicolas; François Lecoquierre; Aurélie Coussement; Yvan Herenger; Matthieu Defrance; Valérie Cormier-Daire; Camille Charbonnier; Maud de Dieuleveult
Academic Journal
Amélie Buisine‐Sbraggia; Julien Thevenon; Kevin Yauy; Marie‐Emmanuelle Naud; Jean‐Marc Costa; Fanny Dubois‐Teklali; Marjolaine Willems; Klaus Dieterich; Véronique Satre; Charles Coutton; Pauline Le Tanno
American Journal of Medical Genetics Part A. 197
Academic Journal
Leïla, Ghesh; Julie, Désir; Damien, Haye; Pauline, Le Tanno; Françoise, Devillard; Benjamin, Cogné; Martina, Marangoni; Laura, Tecco; Delphine, Heron; Claudine, Le Vaillant; Madeleine, Joubert; Claire, Beneteau
Clinical Genetics. 103:560-565
Academic Journal
Nancy Vegas; Zeynep Demir; Christopher T. Gordon; Sylvain Breton; Vanessa L. Romanelli Tavares; Hugo Moisset; Roseli Zechi‐Ceide; Nancy M. Kokitsu‐Nakata; Yasuhiro Kido; Sandrine Marlin; Souad Gherbi Halem; Ilse Meerschaut; Bert Callewaert; Brian Chung; Nicole Revencu; Daphné Lehalle; Florence Petit; Evan J. Propst; Blake C. Papsin; John H. Phillips; Linda Jakobsen; Pauline Le Tanno; Julien Thévenon; Julie McGaughran; Erica H. Gerkes; Chiara Leoni; Peter Kroisel; Tiong Y. Tan; Alex Henderson; Paulien Terhal; Lina Basel‐Salmon; Adila Alkindy; Susan M. White; Maria R. Passos‐Bueno; Véronique Pingault; Loïc De Pontual; Jeanne Amiel
Human mutation, Vol. 43, no. 5, p. 582-594 (2022)
Vegas, N, Demir, Z, Gordon, C T, Breton, S, Romanelli Tavares, V L, Moisset, H, Zechi-Ceide, R, Kokitsu-Nakata, N M, Kido, Y, Marlin, S, Gherbi Halem, S, Meerschaut, I, Callewaert, B, Chung, B, Revencu, N, Lehalle, D, Petit, F, Propst, E J, Papsin, B C, Phillips, J H, Jakobsen, L,Le Tanno , P, Thévenon, J, McGaughran, J, Gerkes, E H, Leoni, C, Kroisel, P, Tan, T Y, Henderson, A, Terhal, P, Basel-Salmon, L, Alkindy, A, White, S M, Passos-Bueno, M R, Pingault, V, De Pontual, L & Amiel, J 2022, ' Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases ', Human Mutation, vol. 43, no. 5, pp. 582-594 . https://doi.org/10.1002/humu.24349
HUMAN MUTATION
Vegas, N, Demir, Z, Gordon, C T, Breton, S, Romanelli Tavares, V L, Moisset, H, Zechi-Ceide, R, Kokitsu-Nakata, N M, Kido, Y, Marlin, S, Gherbi Halem, S, Meerschaut, I, Callewaert, B, Chung, B, Revencu, N, Lehalle, D, Petit, F, Propst, E J, Papsin, B C, Phillips, J H, Jakobsen, L,
HUMAN MUTATION
Academic Journal
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 181:337-344
Academic Journal
Pauline, Le Tanno; Brice, Poreau; Francoise, Devillard; Gaëlle, Vieville; Florence, Amblard; Pierre-Simon, Jouk; Véronique, Satre; Charles, Coutton
American Journal of Medical Genetics Part A. 164:1530-1536
Academic Journal
Coudrieu, Oceane; Ruault, Valentin; Cormier-Daire, Valerie; Brunetti, Nicola; Kannengiesser, Caroline; Kuentz, Paul; Dufour, William; Rollier, Paul; Dubourg, Christele; Creveaux, Isabelle; Guimier, Anne; Cherik, Florian; Thevenon, Julien; Houcinat, Nada; Jacquemont, Marie-Line; Philippe, Christophe; Dauriat, Benjamin; Benquey, Thibaud; Alessandri, Jean-Luc; Zaafrane, Khaoula; Duboc, Veronique; Lainey, Elodie; Keren, Boris; Caumes, Roseline; Mau-Them, Frederic Tran; Alkar, Fanny; Le Tanno, Pauline; Willems, Marjolaine
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