학술논문
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'학술논문'
에서 검색결과 103건 | 목록
1~20
Academic Journal
Cindy Colson; Marine Tessarech; Elise Boucher‐Brischoux; Odile Boute‐Benejean; Catherine Vincent‐Delorme; Clémence Vanlerberghe; Simon Boussion; Justine Le Cunff; Bénédicte Duban‐Bedu; Laurence Faivre; Christel Thauvin; Christophe Philippe; Ange‐Line Bruel; Frédéric Tran Mau‐Them; Clara Houdayer; Gaetan Lesca; Audrey Putoux; Jonathan Lévy; Olivier Patat; Marlène Rio; Jamal Ghoumid; Thomas Smol
Clin Genet
Academic Journal
Jouret, Guillaume; Heide, Solveig; Sorlin, Arthur; Faivre, Laurence; Chantot-Bastaraud, Sandra; Beneteau, Claire; Denis-Musquer, Marie; Turnpenny, Peter; Coutton, Charles; Vieville, Gaëlle; Thevenon, Julien; Larson, Austin; Petit, Florence; Boudry, Elise; Smol, Thomas; Delobel, Bruno; Duban-Bedu, Bénédicte; Fallerini, Chiara; Mari, Francesca; Lo Rizzo, Caterina; Renieri, Alessandra; Caberg, Jean-Hubert; Denommé-Pichon, Anne-Sophie; Tran Mau-Them, Frédéric; Maystadt, Isabelle; Courtin, Thomas; Keren, Boris; Mouthon, Linda; Charles, Perrine; Cuinat, Silvestre; Isidor, Bertrand; Theis, Philippe; Müller, Christian; Kulisic, Marizela; Türkmen, Seval; Stieber, Daniel; Bourgeois, Dominique; Scalais, Emmanuel; Klink, Barbara
Clinical Genetics. 102:117-122
Academic Journal
Elsa Leitão; Christopher Schröder; Ilaria Parenti; Carine Dalle; Agnès Rastetter; Theresa Kühnel; Alma Kuechler; Sabine Kaya; Bénédicte Gérard; Elise Schaefer; Caroline Nava; Nathalie Drouot; Camille Engel; Juliette Piard; Bénédicte Duban-Bedu; Laurent Villard; Alexander P. A. Stegmann; Els K. Vanhoutte; Job A. J. Verdonschot; Frank J. Kaiser; Frédéric Tran Mau-Them; Marcello Scala; Pasquale Striano; Suzanna G. M. Frints; Emanuela Argilli; Elliott H. Sherr; Fikret Elder; Julien Buratti; Boris Keren; Cyril Mignot; Delphine Héron; Jean-Louis Mandel; Jozef Gecz; Vera M. Kalscheuer; Bernhard Horsthemke; Amélie Piton; Christel Depienne
Nature Communications, Vol 13, Iss 1, Pp 1-17 (2022)
Academic Journal
Vera, Gabriella ; Sorlin, Arthur ; Delplancq, Geoffroy ; Lecoquierre, François ; Brasseur-Daudruy, Marie ; Petit, Florence ; Smol, Thomas ; Ziegler, Alban ; Bonneau, Dominique ; Colin, Estelle ; Mercier, Sandra ; Cogné, Benjamin ; Bézieau, Stéphane ; Edery, Patrick ; Lesca, Gaetan ; Chatron, Nicolas ; Sabatier, Isabelle ; Duban-Bedu, Bénédicte ; Colson, Cindy ; Piton, Amélie ; Durand, Benjamin ; Capri, Yline ; Perrin, Laurence ; Wiesener, Antje ; Zweier, Christiane ; Maroofian, Reza ; Carroll, Christopher J. ; Galehdari, Hamid ; Mazaheri, Neda ; Callewaert, Bert ; Giulianno, Fabienne ; Zaafrane-Khachnaoui, Khaoula ; Buchert-Lo, Rebecca ; Haack, Tobias ; Magg, Janine ; Rieß, Angelika ; Blandfort, Maria ; Waldmüller, Stephan ; Horber, Veronka ; Leonardi, Emanuela ; Polli, Roberta ; Turolla, Licia ; Murgia, Alessandra ; Frebourg, Thierry ; Lebre, Anne Sophie ; Nicolas, Gaël ; Saugier-Veber, Pascale ; Guerrot, Anne-Marie
In European Journal of Medical Genetics October 2020 63(10)
Academic Journal
Thomas Smol; Caroline Thuillier; Elise Boudry-Labis; Anne Dieux-Coeslier; Bénédicte Duban-Bedu; Roseline Caumes; Sonia Bouquillon; Sylvie Manouvrier-Hanu; Catherine Roche-Lestienne; Jamal Ghoumid
neurogenetics. 21:67-72
Academic Journal
Moradkhani, Kamran; Cuisset, Laurence; Boisseau, Pierre; Pichon, Olivier; Lebrun, Marine; Hamdi‐rozé, Houda; Maurin, Marie-Laure; Gruchy, Nicolas; Manca‐pellissier, Marie‐christine; Malzac, Perrine; Bilan, Frédéric; Audrézet, Marie-Pierre; Saugier‐veber, Pascale; Fauret‐amsellem, Anne‐laure; Missirian, Chantal; Kuentz, Paul; Egea, Grégory; Guichet, Agnès; Creveaux, Isabelle; Janel, Caroline; Harzallah, Ines; Touraine, Renaud; Goumy, Carole; Joyé, Nicole; Puechberty, Jacques; Haquet, Emmanuelle; Chantot-Bastaraud, Sandra; Schmitt, Sébastien; Gosset, Philippe; Duban-Bedu, Bénédicte; Delobel, Bruno; Vago, Philippe; Vialard, François; Gomes, Denise Molina; Siffroi, Jean‐pierre; Bonnefont, Jean-Paul; Dupont, Jean-Michel; Jonveaux, Philippe; Doco-Fenzy, Martine; Sanlaville, Damien; Le Caignec, Cedric
Prenatal Diagnosis. 39:986-992
Academic Journal
Mignot, Cyril; Mcmahon, Aoife; Bar, Claire; Campeau, Philippe; Davidson, David; Buratti, Julien; Nava, Caroline; Jacquemont, Marie-Line; Tallot, Marilyn; Milh, Mathieu; Edery, Patrick; Marzin, Pauline; Barcia, Giulia; Barnerias, Christine; Besmond, Claude; Bienvenu, Thierry; Bruel, Ange-Line; Brunga, Ledia; Ceulemans, Berten; Coubes, Christine; Cristancho, Ana; Cunningham, Fiona; Dehouck, Marie-Bertille; Donner, Elizabeth; Duban-Bedu, Bénédicte; Dubourg, Christèle; Gardella, Elena; Gauthier, Julie; Genevieve, David; Gobin-Limballe, Stéphanie; Goldberg, Ethan; Hagebeuk, Eveline; Hamdan, Fadi; Hančárová, Miroslava; Hubert, Laurence; Ioos, Christine; Ichikawa, Shoji; Janssens, Sandra; Journel, Hubert; Kaminska, Anna; Keren, Boris; Koopmans, Marije; Lacoste, Caroline; Laššuthová, Petra; Lederer, Damien; Lehalle, Daphne; Marjanovic, Dragan; Metreau, Julia; Michaud, Jacques; Miller, Kathryn; Minassian, Berge; Morales, Joannella; Moutard, Marie-Laure; Munnich, Arnold; Ortiz-Gonzalez, Xilma; Pinard, Jean-Marc; Prchalová, Darina; Putoux, Audrey; Quélin, Chloé; Rosen, Alyssa; Roume, Joëlle; Rossignol, Elsa; Simon, Marleen; Smol, Thomas; Shur, Natasha; Shelihan, Ivan; Štěrbová, Katalin; Vyhnálková, Emílie; Vilain, Catheline; Soblet, Julie; Smits, Guillaume; Yang, Samuel; van Der Smagt, Jasper; van Hasselt, Peter; van Kempen, Marjan; Weckhuysen, Sarah; Helbig, Ingo; Villard, Laurent; Héron, Delphine; Koeleman, Bobby; Møller, Rikke; Lesca, Gaetan; Helbig, Katherine; Nabbout, Rima; Verbeek, Nienke; Depienne, Christel
Genet Med
Genetics in medicine
Genetics in medicine, 21 (4
Mignot, C, McMahon, A C, Bar, C, Campeau, P M, Davidson, C, Buratti, J, Nava, C, Jacquemont, M-L, Tallot, M, Milh, M, Edery, P, Marzin, P, Barcia, G, Barnerias, C, Besmond, C, Bienvenu, T, Bruel, A-L, Brunga, L, Ceulemans, B, Coubes, C, Cristancho, A G, Cunningham, F, Dehouck, M-B, Donner, E J,Duban -Bedu , B, Dubourg, C, Gardella, E, Gauthier, J, Geneviève, D, Gobin-Limballe, S, Goldberg, E M, Hagebeuk, E, Hamdan, F F, Hančárová, M, Hubert, L, Ioos, C, Ichikawa, S, Janssens, S, Journel, H, Kaminska, A, Keren, B, Koopmans, M, Lacoste, C, Laššuthová, P, Lederer, D, Lehalle, D, Marjanovic, D, Métreau, J, Michaud, J L, Miller, K, Minassian, B A, Morales, J, Moutard, M-L, Munnich, A, Ortiz-Gonzalez, X R, Pinard, J-M, Prchalová, D, Putoux, A, Quelin, C, Rosen, A R, Roume, J, Rossignol, E, Simon, M E H, Smol, T, Shur, N, Shelihan, I, Štěrbová, K, Vyhnálková, E, Vilain, C, Soblet, J, Smits, G, Yang, S P, van der Smagt, J J, van Hasselt, P M, van Kempen, M, Weckhuysen, S, Helbig, I, Villard, L, Héron, D, Koeleman, B, Møller, R S, Lesca, G, Helbig, K L, Nabbout, R, Verbeek, N E & Depienne, C 2019, ' IQSEC2-related encephalopathy in males and females : a comparative study including 37 novel patients ', Genetics in Medicine, vol. 21, no. 4, pp. 837-849 . https://doi.org/10.1038/s41436-018-0268-1
Genetics in medicine
Genetics in medicine, 21 (4
Mignot, C, McMahon, A C, Bar, C, Campeau, P M, Davidson, C, Buratti, J, Nava, C, Jacquemont, M-L, Tallot, M, Milh, M, Edery, P, Marzin, P, Barcia, G, Barnerias, C, Besmond, C, Bienvenu, T, Bruel, A-L, Brunga, L, Ceulemans, B, Coubes, C, Cristancho, A G, Cunningham, F, Dehouck, M-B, Donner, E J,
Academic Journal
Minh-Tuan, Huynh; Elise, Boudry-Labis; Alfred, Massard; Caroline, Thuillier; Bruno, Delobel; Bénédicte, Duban-Bedu; Catherine, Vincent-Delorme
European Journal of Human Genetics. 26:1497-1501
Academic Journal
Migliavacca, Eugenia; Golzio, Christelle; Männik, Katrin; Blumenthal, Ian; Oh, Edwin C.; Harewood, Louise; Kosmicki, Jack A.; Loviglio, Maria Nicla; Giannuzzi, Giuliana; Hippolyte, Loyse; Maillard, Anne M.; Alfaiz, Ali Abdullah; van Haelst, Mieke M.; Andrieux, Joris; Gusella, James F.; Daly, Mark J.; Beckmann, Jacques S.; Jacquemont, Sébastien; Talkowski, Michael E.; Katsanis, Nicholas; Reymond, Alexandre; Witwicki, Robert; Didelot, Gérard; van der Werf, Ilse; Alfaiz, Ali A.; Zazhytska, Marianna; Chrast, Jacqueline; Macé, Aurélien; Bergmann, Sven; Kutalik, Zoltan; Siffredi, Vanessa; Zufferey, Flore; Martinet, Danielle; Bena, Frédérique; Rauch, Anita; Bouquillon, Sonia; Delobel, Bruno; Boute, Odile; Duban-Bedu, Bénédicte; Le Caignec, Cédric; Isidor, Bertrand; Chiesa, Jean; Keren, Boris; Gilbert-Dussardier, Brigitte; Touraine, Renaud; Campion, Dominique; Thambo, Caroline Rooryck; Mathieu-Dramard, Michèle; Plessis, Ghislaine; Kooy, Frank; Peeters, Hilde; Ounap, Katrin; Vulto-van Silfhout, Anneke T.; de Vries, Bert B.; van Binsbergen, Ellen; Nordgren, Ann; Mucciolo, Mafalda; Renieri, Alessandra; Rajcan-Separovic, Evica; Philipps, John A.; Ellis, Richard J.
16p11.2 European Consortium 2015, 'A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology', American journal of human genetics, vol. 96, no. 5, pp. 784-96. https://doi.org/10.1016/j.ajhg.2015.04.002
American Journal of Human Genetics, 96, 5, pp. 784-96
American journal of human genetics
American Journal of Human Genetics, 96, 5, pp. 784-96
American journal of human genetics
Academic Journal
Jacquemont, Sébastien; Reymond, Alexandre; Zufferey, Flore; Harewood, Louise; Walters, Robin; Kutalik, Zoltán; Martinet, Danielle; Shen, Yiping; Valsesia, Armand; Beckmann, Noam; Thorleifsson, Gudmar; Belfiore, Marco; Bouquillon, Sonia; Campion, Dominique; de Leeuw, Nicole; de Vries, Bert; Esko, Tõnu; Fernandez, Bridget; Fernández-Aranda, Fernando; Fernández-Real, José Manuel; Gratacòs, Mònica; Guilmatre, Audrey; Hoyer, Juliane; Jarvelin, Marjo-Riitta; Kooy, Frank; Kurg, Ants; Le Caignec, Cédric; Männik, Katrin; Platt, Orah; Sanlaville, Damien; van Haelst, Mieke; Villatoro Gomez, Sergi; Walha, Faida; Wu, Bai-Lin; Yu, Yongguo; Aboura, Azzedine; Addor, Marie-Claude; Alembik, Yves; Antonarakis, Stylianos; Arveiler, Benoît; Barth, Magalie; Bednarek, Nathalie; Béna, Frédérique; Bergmann, Sven; Beri, Mylène; Bernardini, Laura; Blaumeiser, Bettina; Bonneau, Dominique; Bottani, Armand; Boute, Odile; Brunner, Han; Cailley, Dorothée; Callier, Patrick; Chiesa, Jean; Chrast, Jacqueline; Coin, Lachlan; Coutton, Charles; Cuisset, Jean-Marie; Cuvellier, Jean-Christophe; David, Albert; de Freminville, Bénédicte; Delobel, Bruno; Delrue, Marie-Ange; Demeer, Bénédicte; Descamps, Dominique; Didelot, Gérard; Dieterich, Klaus; Disciglio, Vittoria; Doco-Fenzy, Martine; Drunat, Séverine; Duban-Bedu, Bénédicte; Dubourg, Christèle; El-Sayed Moustafa, Julia; Elliott, Paul; Faas, Brigitte; Faivre, Laurence; Faudet, Anne; Fellmann, Florence; Ferrarini, Alessandra; Fisher, Richard; Flori, Elisabeth; Forer, Lukas; Gaillard, Dominique; Gerard, Marion; Gieger, Christian; Gimelli, Stefania; Gimelli, Giorgio; Grabe, Hans; Guichet, Agnès; Guillin, Olivier; Hartikainen, Anna-Liisa; Heron, Délphine; Hippolyte, Loyse; Holder, Muriel; Homuth, Georg; Isidor, Bertrand; Jaillard, Sylvie; Jaros, Zdenek; Jiménez-Murcia, Susana; Joly Helas, Géraldine; Jonveaux, Philippe; Kaksonen, Satu; Keren, Boris; Kloss-Brandstätter, Anita; Knoers, Nine; Koolen, David; Kroisel, Peter; Kronenberg, Florian; Labalme, Audrey; Landais, Emilie; Lapi, Elisabetta; Layet, Valérie; Legallic, Solenn; Leheup, Bruno; Leube, Barbara; Lewis, Suzanne; Lucas, Josette; Macdermot, Kay; Magnusson, Pall; Marshall, Christian; Mathieu-Dramard, Michèle; Mccarthy, Mark; Meitinger, Thomas; Antonietta Mencarelli, Maria; Merla, Giuseppe; Moerman, Alexandre; Mooser, Vincent; Morice-Picard, Fanny; Mucciolo, Mafalda; Nauck, Matthias; Coumba Ndiaye, Ndeye; Nordgren, Ann; Pasquier, Laurent; Petit, Florence; Pfundt, Rolph; Plessis, Ghislaine; Rajcan-Separovic, Evica; Paolo Ramelli, Gian; Rauch, Anita; Ravazzolo, Roberto; Reis, Andre; Renieri, Alessandra; Richart, Cristobal; Ried, Janina; Rieubland, Claudine; Roberts, Wendy; Roetzer, Katharina; Rooryck, Caroline; Rossi, Massimiliano; Saemundsen, Evald; Satre, Véronique; Schurmann, Claudia; Sigurdsson, Engilbert; Stavropoulos, Dimitri; Stefansson, Hreinn; Tengström, Carola; Thorsteinsdóttir, Unnur; Tinahones, Francisco; Touraine, Renaud; Vallée, Louis; van Binsbergen, Ellen; van Der Aa, Nathalie; Vincent-Delorme, Catherine; Visvikis-Siest, Sophie; Vollenweider, Peter; Völzke, Henry; Vulto-van Silfhout, Anneke; Waeber, Gérard; Wallgren-Pettersson, Carina; Witwicki, Robert; Zwolinksi, Simon; Andrieux, Joris; Estivill, Xavier; Gusella, James; Gustafsson, Omar; Metspalu, Andres; Scherer, Stephen; Stefansson, Kari; Blakemore, Alexandra; Beckmann, Jacques; Froguel, Philippe
Nature; Vol 478
Nature
Jacquemont, S, Reymond, A, Zufferey, F, Harewood, L, Walters, R G, Kutalik, Z, Martinet, D, Shen, Y, Valsesia, A, Beckmann, N D, Thorleifsson, G, Belfiore, M, Bouquillon, S, Campion, D, de Leeuw, N, de Vries, B B A, Esko, T, Fernandez, B A, Fernández-Aranda, F, Fernández-Real, J M, Gratacòs, M, Guilmatre, A, Hoyer, J, Jarvelin, M-R, Kooy, R F, Kurg, A, Le Caignec, C, Männik, K, Platt, O S, Sanlaville, D, Van Haelst, M M, Villatoro Gomez, S, Walha, F, Wu, B-L, Yu, Y, Aboura, A, Addor, M-C, Alembik, Y, Antonarakis, S E, Arveiler, B, Barth, M, Bednarek, N, Béna, F, Bergmann, S, Beri, M, Bernardini, L, Blaumeiser, B, Bonneau, D, Bottani, A, Boute, O, Brunner, H G, Cailley, D, Callier, P, Chiesa, J, Chrast, J, Coin, L, Coutton, C, Cuisset, J-M, Cuvellier, J-C, David, A, de Freminville, B, Delobel, B, Delrue, M-A, Demeer, B, Descamps, D, Didelot, G, Dieterich, K, Disciglio, V, Doco-Fenzy, M, Drunat, S,Duban -Bedu , B, Dubourg, C, El-Sayed Moustafa, J S, Elliott, P, Faas, B H W, 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, H J, Guichet, A, Guillin, O, Hartikainen, A-L, Heron, D, Hippolyte, L, Holder, M, Homuth, G, Isidor, B, Jaillard, S, Jaros, Z, Jiménez-Murcia, S, Helas, G J, Jonveaux, P, Kaksonen, S, Keren, B, Kloss-Brandstätter, A, Knoers, N V A M, Koolen, D A, Kroisel, P M, Kronenberg, F, Labalme, A, Landais, E, Lapi, E, Layet, V, Legallic, S, Leheup, B, Leube, B, Lewis, S, Lucas, J, MacDermot, K D, Magnusson, P, Marshall, C, Mathieu-Dramard, M, McCarthy, M I, Meitinger, T, Mencarelli, M A, Merla, G, Moerman, A, Mooser, V, Morice-Picard, F, Mucciolo, M, Nauck, M, Ndiaye, N C, Nordgren, A, Pasquier, L, Petit, F, Pfundt, R, Plessis, G, Rajcan-Separovic, E, Ramelli, G P, Rauch, A, Ravazzolo, R, Reis, A, Renieri, A, Richart, C, Ried, J S, Rieubland, C, Roberts, W, Roetzer, K M, Rooryck, C, Rossi, M, Saemundsen, E, Satre, V, Schurmann, C, Sigurdsson, E, Stavropoulos, D J, Stefansson, H, Tengström, C, Thorsteinsdóttir, U, Tinahones, F J, Touraine, R, Vallée, L, van Binsbergen, E, Van der Aa, N, Vincent-Delorme, C, Visvikis-Siest, S, Vollenweider, P, Völzke, H, Vulto-van Silfhout, A T, Waeber, G, Wallgren-Pettersson, C, Witwicki, R M, Zwolinksi, S, Andrieux, J, Estivill, X, Gusella, J F, Gustafsson, O, Metspalu, A, Scherer, S W, Stefansson, K, Blakemore, A I F, Beckmann, J S & Froguel, P 2011, 'Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus', Nature, vol. 478, no. 7367, pp. 97-102. https://doi.org/10.1038/nature10406
Nature, 478, 7367, pp. 97-102
Nature, Vol. 478, No 7367 (2011) pp. 97-102
Nature, vol. 478, no. 7367, pp. 97-102
Nature
Jacquemont, S, Reymond, A, Zufferey, F, Harewood, L, Walters, R G, Kutalik, Z, Martinet, D, Shen, Y, Valsesia, A, Beckmann, N D, Thorleifsson, G, Belfiore, M, Bouquillon, S, Campion, D, de Leeuw, N, de Vries, B B A, Esko, T, Fernandez, B A, Fernández-Aranda, F, Fernández-Real, J M, Gratacòs, M, Guilmatre, A, Hoyer, J, Jarvelin, M-R, Kooy, R F, Kurg, A, Le Caignec, C, Männik, K, Platt, O S, Sanlaville, D, Van Haelst, M M, Villatoro Gomez, S, Walha, F, Wu, B-L, Yu, Y, Aboura, A, Addor, M-C, Alembik, Y, Antonarakis, S E, Arveiler, B, Barth, M, Bednarek, N, Béna, F, Bergmann, S, Beri, M, Bernardini, L, Blaumeiser, B, Bonneau, D, Bottani, A, Boute, O, Brunner, H G, Cailley, D, Callier, P, Chiesa, J, Chrast, J, Coin, L, Coutton, C, Cuisset, J-M, Cuvellier, J-C, David, A, de Freminville, B, Delobel, B, Delrue, M-A, Demeer, B, Descamps, D, Didelot, G, Dieterich, K, Disciglio, V, Doco-Fenzy, M, Drunat, S,
Nature, 478, 7367, pp. 97-102
Nature, Vol. 478, No 7367 (2011) pp. 97-102
Nature, vol. 478, no. 7367, pp. 97-102
Academic Journal
Mathilde, Nizon; Joris, Andrieux; Caroline, Rooryck; Marie-Christine, de Blois; Emilie, Bourel-Ponchel; Béatrice, Bourgois; Odile, Boute; Albert, David; Bruno, Delobel; Bénédicte, Duban-Bedu; Fabienne, Giuliano; Alice, Goldenberg; Sarah, Grotto; Delphine, Héron; Houda, Karmous-Benailly; Boris, Keren; Didier, Lacombe; Jean-Michel, Lapierre; Cédric, Le Caignec; Eric, Le Galloudec; Martine, Le Merrer; Anne-Gaëlle, Le Moing; Michèle, Mathieu-Dramard; Sylvie, Nusbaum; Olivier, Pichon; Lucile, Pinson; Odile, Raoul; Marlène, Rio; Serge, Romana; Agnès, Roubertie; Laurence, Colleaux; Catherine, Turleau; Michel, Vekemans; Rima, Nabbout; Valérie, Malan
American Journal of Medical Genetics Part A. 167:111-122
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Louise Montagne; Anne Raimondo; Bruno Delobel; Bénédicte Duban-Bedu; Fanny Stutzmann Noblet; Aurélie Dechaume; David C. Bersten; David Meyre; Murray L. Whitelaw; Philippe Froguel; Amélie Bonnefond
Obesity. 22:2621-2624
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Peter, Wang; Prescilla, Carrion; Ying, Qiao; Christine, Tyson; Monica, Hrynchak; Kristina, Calli; Elena, Lopez-Rangel; Joris, Andrieux; Bruno, Delobel; Bénédicte, Duban-Bedu; Ann-Charlotte, Thuresson; Göran, Annerén; Xudong, Liu; Evica, Rajcan-Separovic; M E, Suzanne Lewis
European Journal of Medical Genetics. 56:420-425
Academic Journal
Dubourg, Christèle; Sanlaville, Damien; Doco-Fenzy, Martine; Le Caignec, Cédric; Missirian, Chantal; Jaillard, Sylvie; Schluth-Bolard, Caroline; Landais, Emilie; Boute, Odile; Philip, Nicole; Toutain, Annick; David, Albert; Edery, Patrick; Moncla, Anne; Martin-Coignard, Dominique; Vincent-Delorme, Catherine; Mortemousque, Isabelle; Duban-Bedu, Bénédicte; Drunat, Sèverine; Beri, Mylène; Mosser, Jean; Odent, Sylvie; David, Véronique; Andrieux, Joris
European Journal of Medical Genetics. 54:144-151
Academic Journal
Sonia, Bouquillon; Joris, Andrieux; Emilie, Landais; Bénédicte, Duban-Bedu; Françoise, Boidein; Bruno, Lenne; Louis, Vallée; Teresinha, Leal; Martine, Doco-Fenzy; Bruno, Delobel
European Journal of Medical Genetics. 54:194-197
Academic Journal
Rooryck, Caroline; Morice-Picard, Fanny; Lasseaux, Eulalie; Cailley, Dorothée; Dollfus, Hélène; Defoort-Dhellemme, Sabine; Duban-Bedu, Bénédicte; de Ravel, Thomy J L; Taieb, Alain; Lacombe, Didier; Arveiler, Benoît
Human Genetics. 129:199-208
Academic Journal
Schluth-Bolard, Caroline; Delobel, Bruno; Sanlaville, Damien; Boute, Odile; Cuisset, Jean-Marie; Sukno, Sylvie; Labalme, Audrey; Duban-Bedu, Bénédicte; Plessis, Ghislaine; Jaillard, Sylvie; Dubourg, Christèle; Henry, Catherine; Lucas, Josette; Odent, Sylvie; Pasquier, Laurent; Copin, Henri; Latour, Philippe; Cordier, Marie-Pierre; Nadeau, Gwenaël; Till, Marianne; Edery, Patrick; Andrieux, Joris
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Academic Journal
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European Journal of Medical Genetics. 52:62-66
Academic Journal
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European Journal of Medical Genetics. 51:373-381
Academic Journal
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