학술논문
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'학술논문'
에서 검색결과 375건 | 목록
1~20
Academic Journal
Salima El Chehadeh; Solveig Heide; Chloé Quélin; Marlène Rio; Henri Margot; David Geneviève; Bertrand Isidor; Alice Goldenberg; Caroline Guégan; Gaëtan Lesca; Marjolaine Willems; Clothilde Ormières; Roseline Caumes; Tiffany Busa; Dominique Bonneau; Anne-Marie Guerrot; Isabelle Marey; Gabriella Vera; Pauline Marzin; Anaïs Philippe; Aurore Garde; Christine Coubes; Marie Vincent; Vincent Michaud; Cyril Mignot; Perrine Charles; Sabine Sigaudy; Patrick Edery; Didier Lacombe; Anne Boland; Frédérique Nowak; Marion Bouctot; Marie-Laure Humbert-Asensio; Alban Simon; Kirsley Chennen; Niki Sabour; Christelle Delmas; Gaël Nicolas; Pascale Saugier-Veber; François Lecoquierre; Kévin Cassinari; Boris Keren; Thomas Courtin; Jean-Madeleine De Sainte Agathe; Valérie Malan; Giulia Barcia; Frédéric Tran Mau-Them; Hana Safraou; Christophe Philippe; Julien Thévenon; Nicolas Chatron; Louis Januel; Amélie Piton; Virginie Haushalter; Bénédicte Gérard; Catherine Lejeune; Laurence Faivre; Damien Sanlaville; Delphine Héron; Sylvie Odent; Patrick Nitschké; Caroline Schluth-Bolard; Stanislas Lyonnet; Jean-François Deleuze; Christine Binquet; Hélène Dollfus; Magalie Barth; Estelle Colin; Yosra Halleb; Clara Houdayer; Clément Prouteau; Marine Tessarech; Alban Ziegler; Chloé Angelini; Marie-Pierre Baudier; Meryem Britel; Noémie Bronnec; Clémence Deiber; Virginie Dorian; Juliette Gaudry; Cyril Goizet; Nawel Hairech; Ouidad Hasnaoui; Manon Laurent; Marine Legendre; Sophie Naudion; Ndeye-Fatou Ngom; Caroline Rooryck Thambo; Julien Van Gils; Cécile Zordan; Myriam Borel; Anne-Sophie Briffaut; Charley Robert Viard; Delphine Bacq-Daian; Celine Besse; Bertrand Fin; Vincent Meyer; Marie-Laure Moutet; Robert Olaso; Florian Sandron; Violette Turon; Celine Bernard; Marie Bournez; Ange-Line Bruel; Eleonore Viora-Dupont; Julian Delanne; Anne-Sophie Denommé-Pichon; Yannis Duffourd; Romain Duquet; Aurelie Espitalier; Clemence Fauconnier-Fatus; Sophie Nambot; Aurore Petiot; Victor Pillay; Charlotte Poe; Melodie Soto; Christel Thauvin; Mylene Tharreau; Antonio Vitobello; Marjolaine Gauthier; Marie-Ange Nguyen Morel; Frederique Nugues; Antoine Wyrebski; Klaus Dieterich; Pauline Le Tanno; Laurence Bellengier; Odile Boute; Cindy Colson; Anne Dieux; Jamal Ghoumid; Luisa Marsili; Florence Petit; Coralie Rubeck; Clemence Vanlerberghe; Catherine Vincent-Delorme; Christelle Rougeot-Jung; Aurore Curie; Vincent des Portes; Sylvie Goutte; Damien Haye; Audrey Labalme; Pauline Monin; Marianne Till; Thibaud Armand; Julie Reversat; Françoise Robert; Amelie Berthiot; Marion Colard; Lamia El Amrani-El Idrissi; Tiphaine Francois; Haymanot George; Manel Saidi; Karima Rendja; Iracema Triguel; Claire Bardel; Pierre Antoine Rollat-Farnier; Audrey Putoux; Massimiliano Rossi; Linda Pons; Emilie Consolino; Olga Glazunova; Audrey Mallet; Nicole Philip-Sarles; Florence Riccardi; Valerie Seror; Severine Beltram; Florent Cerret; Laura Crantelle; Mirna Khalil; Patricia Blanchet; Caroline Deiller; Emmanuelle Haquet; Lucile Pinson; Constance Wells; Francis Guillemin; Solene Conrad; Laura Guyon; Sandra Mercier; Mathilde Nizon; Annastasia Voisine; Kahina Abdallah; Jeanne Amiel; Genevieve Baujat; Wiam Bhia; Jean-Paul Bonnefont; Valerie Cormier-Daire; Narimene De Nadai; Valeria Florentino; Kelly Gouvenot; Anne Guimier; Hamza Hadj Abdallah; Jerome Jeannette; Sandrine Marlin; Cecile Masson; Caroline Michot; Lea Peroni; Serge Romana; Alexandra Afenjar; Lydie Burglen; Sandra Whalen; Julien Buratti; Eric Leguern; Anne Faudet; Anna Gerasimenko; Caroline Moukossi-Mouelle; Linda Mouthon; Anne-Sophie Pellen; Stephanie Staraci; Daphne Lehalle; Helene Esperou; Soizic Le Mestre; Claire Levy-Marchal; Wilfrid Carre; Marie De Tayrac; Christele Dubourg; Chloé Fournier; Linda Akloul; Melanie Fradin; Nolwenn Jean-Marcais; Alinoë Lavillaureix; Godelieve Morel; Laurent Pasquier; Elisabeth Poirel; Audrey Riou; Paul Rollier; Anne-Claire Brehin; Pascal Chambon; Delphine Gonde; Geraldine Joly-Helas; Nadege Calmels; Celine Cuny; Claire Feger; Benjamin Durand; Nathalie Goetz; Pierre-Yves Maillard; Sophie Monduc; Elise Schaefer; Sophie Scheidecker; Jean Muller; Amelie Piton
Genome Med
Academic Journal
Ruck, Armelle; Requena, Maria-Bernarda; Bonneton, Marion; Chiarabini, Thibault; Lacombe, Karine; Lalande, Valérie; Jatteau, Pierre; Prin, Nicolas; Magrini-Teles, Giovanna; Chevallier-Galochet, Théo; Jaspard, Marie; Naudion, Pauline; Abi-Aad, Yasmine; Valin, Nadia; Surgers, Laure
International Journal of Infectious Diseases. 161
Academic Journal
Manon D. E. Vriendt; Caroline Rooryck; Hugo Madar; Frédéric Coatleven; Marie Vincienne; Perrine Prier; Sophie Naudion; Loïc Sentilhes; Hanane Bouchghoul
Acta Obstet Gynecol Scand
Acta Obstetricia et Gynecologica Scandinavica, Vol 104, Iss 4, Pp 629-636 (2025)
Acta Obstetricia et Gynecologica Scandinavica, Vol 104, Iss 4, Pp 629-636 (2025)
Academic Journal
Nava, Caroline; Cogne, Benjamin; Santini, Amandine; Leitão, Elsa; Lecoquierre, François; Chen, Yuyang; Stenton, Sarah L.; Besnard, Thomas; Heide, Solveig; Baer, Sarah; Jakhar, Abhilasha; Neuser, Sonja; Keren, Boris; Faudet, Anne; Forlani, Sylvie; Faoucher, Marie; Uguen, Kevin; Platzer, Konrad; Afenjar, Alexandra; Alessandri, Jean-Luc; Andres, Stephanie; Angelini, Chloé; Aral, Bernard; Arveiler, Benoit; Attie-Bitach, Tania; Aubert Mucca, Marion; Banneau, Guillaume; Barakat, Tahsin Stefan; Barcia, Giulia; Baulac, Stéphanie; Beneteau, Claire; Benkerdou, Fouzia; Bernard, Virginie; Bézieau, Stéphane; Bonneau, Dominique; Bonnet-Dupeyron, Marie-Noelle; Boussion, Simon; Boute, Odile; Brischoux-Boucher, Elise; Bryen, Samantha J.; Buratti, Julien; Busa, Tiffany; Caliebe, Almuth; Capri, Yline; Cassinari, Kévin; Caumes, Roseline; Cenni, Camille; Chambon, Pascal; Charles, Perrine; Christodoulou, John; Colson, Cindy; Conrad, Solène; Cospain, Auriane; Coursimault, Juliette; Courtin, Thomas; Couse, Madeline; Coutton, Charles; Creveaux, Isabelle; D’Gama, Alissa M.; Dauriat, Benjamin; de Sainte Agathe, Jean-Madeleine; Del Gobbo, Giulia; Delahaye-Duriez, Andrée; Delanne, Julian; Denommé-Pichon, Anne-Sophie; Dieux-Coeslier, Anne; Do Souto Ferreira, Laura; Doco-Fenzy, Martine; Drukewitz, Stephan; Duboc, Véronique; Dubourg, Christèle; Duffourd, Yannis; Dyment, David; El Chehadeh, Salima; Elmaleh, Monique; Faivre, Laurence; Fennelly, Samuel; Fischer, Hanna; Fradin, Mélanie; Galludec Vaillant, Camille; Ganne, Benjamin; Ghoumid, Jamal; Goel, Himanshu; Gokce-Samar, Zeynep; Goldenberg, Alice; Gonfreville Robert, Romain; Gorokhova, Svetlana; Goujon, Louise; Granier, Victoria; Gras, Mathilde; Greally, John M.; Greiten, Bianca; Gueguen, Paul; Guerrot, Anne-Marie; Guha, Saurav; Guimier, Anne; Haack, Tobias B.; Hadj Abdallah, Hamza; Halleb, Yosra; Harbuz, Radu; Harris, Madeleine; Hentschel, Julia; Héron, Bénédicte; Hitz, Marc-Phillip; Innes, A. Micheil; Jadas, Vincent; Januel, Louis; Jean-Marçais, Nolwenn; Jobanputra, Vaidehi; Jobic, Florence; Jornea, Ludmila; Jost, Céline; Julia, Sophie; Kaiser, Frank J.; Kaschta, Daniel; Kaya, Sabine; Ketteler, Petra; Khadija, Bochra; Kilpert, Fabian; Knopp, Cordula; Kraft, Florian; Krey, Ilona; Lackmy, Marilyn; Laffargue, Fanny; Lambert, Laetitia; Lamont, Ryan; Laugel, Vincent; Laurie, Steven; Lauzon, Julie L.; Lebreton, Louis; Lebrun, Marine; Legendre, Marine; Leguern, Eric; Lehalle, Daphné; Lejeune, Elodie; Lesca, Gaetan; Lesieur-Sebellin, Marion; Levy, Jonathan; Linglart, Agnès; Lyonnet, Stanislas; Lüthy, Kevin; Ma, Alan S.; Mach, Corinne; Mandel, Jean-Louis; Mansour-Hendili, Lamisse; Marcadier, Julien; Marin, Victor; Margot, Henri; Marquet, Valentine; May, Angèle; Mayr, Johannes A.; Meridda, Catherine; Michaud, Vincent; Michot, Caroline; Nadeau, Gwenael; Naudion, Sophie; Nguyen, Laetitia; Nizon, Mathilde; Nowak, Frédérique; Odent, Sylvie; Olin, Valerie; Osei-Owusu, Ikeoluwa A.; Osmond, Matthew; Õunap, Katrin; Pasquier, Laurent; Passemard, Sandrine; Pauly, Melissa; Patat, Olivier; Pensec, Marine; Perrin-Sabourin, Laurence; Petit, Florence; Philippe, Christophe; Planes, Marc; Poduri, Annapurna; Poirsier, Céline; Pouzet, Antoine; Prince, Bradley; Prouteau, Clément; Pujol, Aurora; Racine, Caroline; Rama, Mélanie; Ramond, Francis; Ranguin, Kara; Raway, Margaux; Reis, André; Renaud, Mathilde; Revencu, Nicole; Richard, Anne-Claire; Riera-Navarro, Lucile; Rius, Rocio; Rodriguez, Diana; Rodriguez-Palmero, Agustí; Rondeau, Sophie; Roser-Unruh, Annika; Rougeot Jung, Christelle; Safraou, Hana; Satre, Véronique; Saugier-Veber, Pascale; Sauvestre, Clément; Schaefer, Elise; Shao, Wanqing; Schanze, Ina; Schlump, Jan-Ulrich; Schlüter Martin, Agatha; Schluth-Bolard, Caroline; Schuhmann, Sarah; Schröder, Christopher; Sebastin, Monisha; Sigaudy, Sabine; Spielmann, Malte; Spodenkiewicz, Marta; St Clair, Laura; Steffann, Julie; Stoeva, Radka; Surowy, Harald; Tarnopolsky, Mark A.; Todosi, Calina; Toutain, Annick; Tran Mau-Them, Frédéric; Unterlauft, Astrid; Van-Gils, Julien; Vanlerberghe, Clémence; Vasileiou, Georgia; Vera, Gabriella; Verdel, André; Verloes, Alain; Vial, Yoann; Vignal, Cédric; Vincent, Marie; Vincent-Delorme, Catherine; Vincent-Devulder, Aline; Vitobello, Antonio; Weber, Sacha; Willems, Marjolaine; Zaafrane-Khachnaoui, Khaoula; Zacher, Pia; Zeltner, Lena; Ziegler, Alban; Galej, Wojciech P.; Dollfus, Hélène; Thauvin, Christel; Boycott, Kym M.; Marijon, Pierre; Lermine, Alban; Malan, Valérie; Rio, Marlène; Kuechler, Alma; Isidor, Bertrand; Drunat, Séverine; Smol, Thomas; Chatron, Nicolas; Piton, Amélie; Nicolas, Gael; Wagner, Matias; Abou Jamra, Rami; Héron, Delphine; Mignot, Cyril; Blanc, Pierre; O’Donnell-Luria, Anne; Whiffin, Nicola; Charbonnier, Camille; Charenton, Clément; Thevenon, Julien; Depienne, Christel
Nature Genetics. :1-15
Academic Journal
Daval, Charlène; Meunier-Beillard, Nicolas; Viora-Dupont, Eléonore; Delanne, Julian; Garde, Aurore; Racine, Caroline; Tran Mau-Them, Frédéric; Denommé‐pichon, Anne‐sophie; Philippe, Christophe; Bruel, Ange-Line; Safraou, Hana; Odent, Sylvie; Quélin, Chloé; Legendre, Marine; Naudion, Sophie; Jeanne, Médéric; Jacquemont, Marie‐line; Guichet, Agnés; Saldana, Camille; Guerrot, Anne Marie; Goldenberg, Alice; Guégan, C; Vincent, Marie; Putoux, Audrey; Francannet, Christine; Wells, Constance; Arthuis, Chloé; Alexandre, Elodie; Rousseau, Thierry; Martz, Olivia; Simon, Émilie; Magnien, Ornella; Bobert, Fanny; Bert, Sophie; Coatleven, Frédéric; Reveyaz, Fanny; Moulinié, Perrine; Binquet, C; Thauvin-Robinet, Christel; Faivre, Laurence
Prenatal Diagnosis.
Academic Journal
Thomas, Hortense; Alix, Tom; Renard, Emeline; Renaud, Mathilde; Wourms, Justine; Zuily, Stéphane; Leheup, Bruno; Geneviève, David; Dreumont, Natacha; Schmitt, Emmanuelle; Bronner, Myriam; Muller, Marc; Divoux, Marion; Wandzel, Marion; Ravel, Jean-Marie; Dexheimer, Mylène; Becker, Aurélie; Roth, Virginie; Willems, Marjolaine; Coubes, Christine; Vieville, Gaëlle; Devillard, Françoise; Schaefer, Élise; Baer, Sarah; Piton, Amélie; Gérard, Bénédicte; Vincent, Marie; Nizon, Mathilde; Cogné, Benjamin; Ruaud, Lyse; Couque, Nathalie; Putoux, Audrey; Edery, Patrick; Lesca, Gaëtan; Chatron, Nicolas; Till, Marianne; Faivre, Laurence; Tran-Mau-Them, Frédéric; Alessandri, Jean-Luc; Lebrun, Marine; Quélin, Chloé; Odent, Sylvie; Dubourg, Christèle; David, Véronique; Faoucher, Marie; Mignot, Cyril; Keren, Boris; Pisan, Élise; Afenjar, Alexandra; Julia, Sophie; Bieth, Éric; Banneau, Guillaume; Goldenberg, Alice; Husson, Thomas; Campion, Dominique; Lecoquierre, François; Nicolas, Gaël; Charbonnier, Camille; de Saint Martin, Anne; Naudion, Sophie; Degoutin, Manon; Rondeau, Sophie; Michot, Caroline; Cormier-Daire, Valérie; Oussalah, Abderrahim; Bossenmeyer-Pourié, Carine; Lambert, Laëtitia; Bonnet, Céline
Journal of Medical Genetics. 61:878-885
Academic Journal
Cuinat, Silvestre; Quélin, Chloé; Effray, Claire; Dubourg, Christèle; Le Bouar, Gwenaelle; Cabaret-Dufour, Anne-Sophie; Loget, Philippe; Proisy, Maia; Sauvestre, Fanny; Sarreau, Mélie; Martin-Berenguer, Sophie; Beneteau, Claire; Naudion, Sophie; Michaud, Vincent; Arveiler, Benoit; Trimouille, Aurélien; Macé, Pierre; Sigaudy, Sabine; Glazunova, Olga; Torrents, Julia; Raymond, Laure; Saint-Frison, Marie-Hélène; Attié-Bitach, Tania; Lefebvre, Mathilde; Capri, Yline; Bourgon, Nicolas; Thauvin-Robinet, Christel; Tran Mau-Them, Frédéric; Bruel, Ange-Line; Vitobello, Antonio; Denommé-Pichon, Anne-Sophie; Faivre, Laurence; Brehin, Anne-Claire; Goldenberg, Alice; Patrier-Sallebert, Sophie; Perani, Alexandre; Dauriat, Benjamin; Bourthoumieu, Sylvie; Yardin, Catherine; Marquet, Valentine; Barnique, Marion; Fiorenza-Gasq, Maryse; Marey, Isabelle; Tournadre, Danielle; Doumit, Raïa; Nugues, Frédérique; Barakat, Tahsin Stefan; Bustos, Francisco; Jaillard, Sylvie; Launay, Erika; Pasquier, Laurent; Odent, Sylvie
J Med Genet
Academic Journal
Robin, Alexandre ; Abi Aad, Yasmine ; Valin, Nadia ; Cruchet, Romuald ; Naudion, Pauline ; Chiarabini, Thibault ; Richier, Quentin
In La revue de médecine interne November 2025 46(11):644-653
Academic Journal
Manon De Vriendt; Caroline Rooryck; Frédéric Coatleven; Marie Sarrau; Marie Vincienne; Perrine Prier; Sophie Naudion; Loïc Sentilhes; Hanane Bouchghoul
Gynécologie Obstétrique Fertilité & Sénologie. 51:367-371
Academic Journal
Depienne, Christel; Nava, Caroline; Keren, Boris; Heide, Solveig; Rastetter, Agnès; Passemard, Sandrine; Chantot-Bastaraud, Sandra; Moutard, Marie Laure; Agrawal, Pankaj B.; VanNoy, Grace; Stoler, Joan M.; Amor, David J; Billette de Villemeur, Thierry; Doummar, Diane; Alby, Caroline; Cormier-Daire, Valérie; Garel, Catherine; Marzin, Pauline; Scheidecker, Sophie; de Saint-Martin, Anne; Hirsch, Edouard; Korff, Christian; Bottani, Armand; Faivre, Laurence; Verloes, Alain; Orzechowski, Christine; Burglen, Lydie; Leheup, Bruno; Roume, Joelle; Andrieux, Joris; Sheth, Frenny; Datar, Chaitanya; Parker, Michael J.; Pasquier, Laurent; Odent, Sylvie; Naudion, Sophie; Delrue, Marie Ange; Le Caignec, Cédric; Vincent, Marie; Isidor, Bertrand; Renaldo, Florence; Stewart, Fiona; Toutain, Annick; Koehler, Udo; Häckl, Birgit; von Stülpnagel, Celina; Kluger, Gerhard; Møller, Rikke S.; Jonson, Tord; Soller, Maria; DDD Study
Human Genetics. 136(4):463-479
Academic Journal
Bogaert, Elke; Garde, Aurore; Gautier, Thierry; Rooney, Kathleen; Duffourd, Yannis; Leblanc, Pontus; van Reempts, Emma; Tran Mau-Them, Frédéric; Wentzensen, Ingrid; Au, Kit Sing; Richardson, Kate; Northrup, Hope; Gatinois, Vincent; Geneviève, David; Louie, Raymond; Lyons, Michael; Laulund, Lone Walentin; Brasch-Andersen, Charlotte; Maxel Juul, Trine; El It, Fatima; Marle, Nathalie; Callier, Patrick; Relator, Raissa; Haghshenas, Sadegheh; Mcconkey, Haley; Kerkhof, Jennifer; Cesario, Claudia; Novelli, Antonio; Brunetti-Pierri, Nicola; Pinelli, Michele; Pennamen, Perrine; Naudion, Sophie; Legendre, Marine; Courdier, Cécile; Trimouille, Aurélien; Doco-Fenzy, Martine; Pais, Lynn; Yeung, Alison; Nugent, Kimberly; Roeder, Elizabeth R.; Mitani, Tadahiro; Posey, Jennifer; Calame, Daniel; Yonath, Hagith; Rosenfeld, Jill; Musante, Luciana; Faletra, Flavio; Montanari, Francesca; Sartor, Giovanna; Vancini, Alessandra; Seri, Marco; Besmond, Claude; Poirier, Karine; Hubert, Laurence; Hemelsoet, Dimitri; Munnich, Arnold; Lupski, James; Philippe, Christophe; Thauvin-Robinet, Christel; Faivre, Laurence; Sadikovic, Bekim; Govin, Jérôme; Dermaut, Bart; Vitobello, Antonio
Am J Hum Genet
AMERICAN JOURNAL OF HUMAN GENETICS
Am J Hum Genet.
AMERICAN JOURNAL OF HUMAN GENETICS
Am J Hum Genet.
Academic Journal
de Sainte Agathe, Jean-Madeleine; Pode-Shakked, Ben; Naudion, Sophie; Michaud, Vincent; Arveiler, Benoit; Fergelot, Patricia; Delmas, Jean; Keren, Boris; Poirsier, Céline; Alkuraya, Fowzan; Tabarki, Brahim; Bend, Eric; Davis, Kellie; Bebin, Martina; Thompson, Michelle; Bryant, Emily; Wagner, Matias; Hannibal, Iris; Lenberg, Jerica; Krenn, Martin; Wigby, Kristen; Friedman, Jennifer; Iascone, Maria; Cereda, Anna; Miao, Térence; Leguern, Eric; Argilli, Emanuela; Sherr, Elliott; Caluseriu, Oana; Tidwell, Timothy; Bayrak-Toydemir, Pinar; Hagedorn, Caroline; Brugger, Melanie; Vill, Katharina; Morneau-Jacob, Francois-Dominique; Chung, Wendy; Weaver, Kathryn; Owens, Joshua; Husami, Ammar; Chaudhari, Bimal; Stone, Brandon; Burns, Katie; Li, Rachel; de Lange, Iris; Biehler, Margaux; Ginglinger, Emmanuelle; Gérard, Bénédicte; Stottmann, Rolf; Trimouille, Aurélien
J Med Genet
J. Med. Genet. 60, 999-1005 (2023)
Journal of Medical Genetics, vol 60, iss 10
J. Med. Genet. 60, 999-1005 (2023)
Journal of Medical Genetics, vol 60, iss 10
Academic Journal
Naudion, Pauline; Raffetin, Alice; Zayet, Souheil; Klopfenstein, Timothée; Baux, Elisabeth; Martinot, Martin; Piroth, Lionel; Caumes, Eric; Chirouze, Catherine; Bouiller, Kevin
European Journal of Clinical Microbiology & Infectious Diseases. 42:441-452
Academic Journal
Palmer, Elizabeth E.; Pusch, Michael; Picollo, Alessandra; Forwood, Caitlin; Nguyen, Matthew H.; Suckow, Vanessa; Gibbons, Jessica; Hoff, Alva; Sigfrid, Lisa; Megarbane, Andre; Nizon, Mathilde; Cogne, Benjamin; Beneteau, Claire; Alkuraya, Fowzan S.; Chedrawi, Aziza; Hashem, Mais O.; Stamberger, Hannah; Weckhuysen, Sarah; Vanlander, Arnaud; Ceulemans, Berten; Rajagopalan, Sulekha; Nunn, Kenneth; Arpin, Stephanie; Raynaud, Martine; Motter, Constance S.; Ward-Melver, Catherine; Janssens, Katrien; Meuwissen, Marije; Beysen, Diane; Dikow, Nicola; Grimmel, Mona; Haack, Tobias B.; Clement, Emma; McTague, Amy; Hunt, David; Townshend, Sharron; Ward, Michelle; Richards, Linda J.; Simons, Cas; Costain, Gregory; Dupuis, Lucie; Mendoza-Londono, Roberto; Dudding-Byth, Tracy; Boyle, Jackie; Saunders, Carol; Fleming, Emily; El Chehadeh, Salima; Spitz, Marie-Aude; Piton, Amelie; Gerard, Benedicte; Warde, Marie-Therese Abi; Rea, Gillian; McKenna, Caoimhe; Douzgou, Sofia; Banka, Siddharth; Akman, Cigdem; Bain, Jennifer M.; Sands, Tristan T.; Wilson, Golder N.; Silvertooth, Erin J.; Miller, Lauren; Lederer, Damien; Sachdev, Rani; Macintosh, Rebecca; Monestier, Olivier; Karadurmus, Deniz; Collins, Felicity; Carter, Melissa; Rohena, Luis; Willemsen, Marjolein H.; Ockeloen, Charlotte W.; Pfundt, Rolph; Kroft, Sanne D.; Field, Michael; Laranjeira, Francisco E. R.; Fortuna, Ana M.; Soares, Ana R.; Michaud, Vincent; Naudion, Sophie; Golla, Sailaja; Weaver, David D.; Bird, Lynne M.; Friedman, Jennifer; Clowes, Virginia; Joss, Shelagh; Polsler, Laura; Campeau, Philippe M.; Blazo, Maria; Bijlsma, Emilia K.; Rosenfeld, Jill A.; Beetz, Christian; Powis, Zoe; McWalter, Kirsty; Brandt, Tracy; Torti, Erin; Mathot, Mikael; Mohammad, Shekeeb S.; Armstrong, Ruth; Kalscheuer, Vera M.
Molecular Psychiatry. 28(2):668-697
Academic Journal
Abbott, Kristin M.; Banka, Siddharth; de Boer, Elke; Ciolfi, Andrea; Clayton-Smith, Jill; Dallapiccola, Bruno; Denommé-Pichon, Anne-Sophie; Faivre, Laurence; Gilissen, Christian; Haack, Tobias B.; Havlovicova, Marketa; Hoischen, Alexander; Jackson, Adam; Kerstjens, Mieke; Kleefstra, Tjitske; Martín, Estrella López; Macek, Milan, Jr.; Matalonga, Leslie; Maystadt, Isabelle; Morleo, Manuela; Nigro, Vicenzo; Pinelli, Michele; Pizzi, Simone; Posada, Manuel; Radio, Francesca C.; Renieri, Alessandra; Riess, Olaf; Rooryck, Caroline; Ryba, Lukas; Agathe, Jean-Madeleine de Sainte; Santen, Gijs W.E.; Schwarz, Martin; Tartaglia, Marco; Thauvin, Christel; Torella, Annalaura; Trimouille, Aurélien; Verloes, Alain; Vissers, Lisenka; Vitobello, Antonio; Votypka, Pavel; Zguro, Kristina; Boer, Elke de; Cohen, Enzo; Danis, Daniel; Gao, Fei; Horvath, Rita; Johari, Mridul; Johanson, Lennart; Li, Shuang; Morsy, Heba; Nelson, Isabelle; Paramonov, Ida; te Paske, Iris B.A.W.; Robinson, Peter; Savarese, Marco; Steyaert, Wouter; Töpf, Ana; van der Velde, Joeri K.; Vandrovcova, Jana; Graessner, Holm; Zurek, Birte; Ellwanger, Kornelia; Ossowski, Stephan; Demidov, German; Sturm, Marc; Schulze-Hentrich, Julia M.; Schüle, Rebecca; Xu, Jishu; Kessler, Christoph; Wayand, Melanie; Synofzik, Matthis; Wilke, Carlo; Traschütz, Andreas; Schöls, Ludger; Hengel, Holger; Lerche, Holger; Kegele, Josua; Heutink, Peter; Brunner, Han; Scheffer, Hans; Hoogerbrugge, Nicoline; ‘t Hoen, Peter A.C.; Vissers, Lisenka E.L.M.; Sablauskas, Karolis; de Voer, Richarda M.; Kamsteeg, Erik-Jan; van de Warrenburg, Bart; van Os, Nienke; Paske, Iris te; Janssen, Erik; Steehouwer, Marloes; Yaldiz, Burcu; Brookes, Anthony J.; Veal, Colin; Gibson, Spencer; Maddi, Vatsalya; Mehtarizadeh, Mehdi; Riaz, Umar; Warren, Greg; Dizjikan, Farid Yavari; Shorter, Thomas; Straub, Volker; Bettolo, Chiara Marini; Manera, Jordi Diaz; Hambleton, Sophie; Engelhardt, Karin; Alexander, Elizabeth; Duffourd, Yannis; Bruel, Ange-Line; Peyron, Christine; Pélissier, Aurore; Beltran, Sergi; Gut, Ivo Glynne; Laurie, Steven; Piscia, Davide; Papakonstantinou, Anastasios; Bullich, Gemma; Corvo, Alberto; Fernandez-Callejo, Marcos; Hernández, Carles; Picó, Daniel; Lochmüller, Hanns; Gumus, Gulcin; Bros-Facer, Virginie; Rath, Ana; Hanauer, Marc; Lagorce, David; Hongnat, Oscar; Chahdil, Maroua; Lebreton, Emeline; Stevanin, Giovanni; Durr, Alexandra; Davoine, Claire-Sophie; Guillot-Noel, Léna; Heinzmann, Anna; Coarelli, Giulia; Bonne, Gisèle; Evangelista, Teresinha; Allamand, Valérie; Ben Yaou, Rabah; Metay, Corinne; Eymard, Bruno; Atalaia, Antonio; Stojkovic, Tanya; Turnovec, Marek; Thomasová, Dana; Kremliková, Radka Pourová; Franková, Vera; Havlovicová, Markéta; Lišková, Petra; Doležalová, Pavla; Parkinson, Helen; Keane, Thomas; Freeberg, Mallory; Thomas, Coline; Spalding, Dylan; Robert, Glenn; Costa, Alessia; Patch, Christine; Hanna, Mike; Houlden, Henry; Reilly, Mary; Efthymiou, Stephanie; Cali, Elisa; Magrinelli, Francesca; Sisodiya, Sanjay M.; Rohrer, Jonathan; Muntoni, Francesco; Zaharieva, Irina; Sarkozy, Anna; Timmerman, Vincent; Baets, Jonathan; de Vries, Geert; De Winter, Jonathan; Beijer, Danique; de Jonghe, Peter; Van de Vondel, Liedewei; De Ridder, Willem; Weckhuysen, Sarah; Nigro, Vincenzo; Mutarelli, Margherita; Varavallo, Alessandra; Banfi, Sandro; Musacchia, Francesco; Piluso, Giulio; Ferlini, Alessandra; Selvatici, Rita; Gualandi, Francesca; Bigoni, Stefania; Rossi, Rachele; Neri, Marcella; Aretz, Stefan; Spier, Isabel; Sommer, Anna Katharina; Peters, Sophia; Oliveira, Carla; Pelaez, Jose Garcia; Matos, Ana Rita; José, Celina São; Ferreira, Marta; Gullo, Irene; Fernandes, Susana; Garrido, Luzia; Ferreira, Pedro; Carneiro, Fátima; Swertz, Morris A.; Johansson, Lennart; van der Vries, Gerben; Neerincx, Pieter B.; Ruvolo, David; Kerstjens Frederikse, Wilhemina S.; Zonneveld-Huijssoon, Eveline; Roelofs-Prins, Dieuwke; van Gijn, Marielle; Köhler, Sebastian; Metcalfe, Alison; Drunat, Séverine; Heron, Delphine; Mignot, Cyril; Keren, Boris; Lacombe, Didier; Trimouille, Aurelien; Capella, Gabriel; Valle, Laura; Holinski-Feder, Elke; Laner, Andreas; Steinke-Lange, Verena; Cilio, Maria-Roberta; Carpancea, Evelina; Depondt, Chantal; Lederer, Damien; Sznajer, Yves; Duerinckx, Sarah; Mary, Sandrine; Macaya, Alfons; Cazurro-Gutiérrez, Ana; Pérez-Dueñas, Belén; Munell, Francina; Jarava, Clara Franco; Masó, Laura Batlle; Marcé-Grau, Anna; Colobran, Roger; Hackman, Peter; Udd, Bjarne; Hemelsoet, Dimitri; Dermaut, Bart; Schuermans, Nika; Poppe, Bruce; Verdin, Hannah; Osorio, Andrés Nascimento; Depienne, Christel; Roos, Andreas; Cordts, Isabell; Deschauer, Marcus; Striano, Pasquale; Zara, Federico; Riva, Antonella; Iacomino, Michele; Uva, Paolo; Scala, Marcello; Scudieri, Paolo; Başak, Ayşe Nazlı; Claeys, Kristl; Boztug, Kaan; Haimel, Matthias; W.E, Gijs; Ruivenkamp, Claudia A.L.; Natera de Benito, Daniel; Thompson, Rachel; Polavarapu, Kiran; Grimbacher, Bodo; Zaganas, Ioannis; Kokosali, Evgenia; Lambros, Mathioudakis; Evangeliou, Athanasios; Spilioti, Martha; Kapaki, Elisabeth; Bourbouli, Mara; Radio, Francesca Clementina; Balicza, Peter; Molnar, Maria Judit; De la Paz, Manuel Posada; Sánchez, Eva Bermejo; Delgado, Beatriz Martínez; Alonso García de la Rosa, F. Javier; Schröck, Evelin; Rump, Andreas; Mei, Davide; Vetro, Annalisa; Balestrini, Simona; Guerrini, Renzo; Chinnery, Patrick F.; Ratnaike, Thiloka; Schon, Katherine; Maver, Ales; Peterlin, Borut; Münchau, Alexander; Lohmann, Katja; Herzog, Rebecca; Pauly, Martje; May, Patrick; Beeson, David; Cossins, Judith; Furini, Simone; Fallerini, Chiara; Benetti, Elisa; Afenjar, Alexandra; Goldenberg, Alice; Masurel, Alice; Phan, Alice; Dieux-Coeslier, Anne; Fargeot, Anne; Guerrot, Anne-Marie; Toutain, Annick; Molin, Arnaud; Sorlin, Arthur; Putoux, Audrey; Jouret, Béatrice; Laudier, Béatrice; Demeer, Bénédicte; Doray, Bérénice; Bonniaud, Bertille; Isidor, Bertrand; Gilbert-Dussardier, Brigitte; Leheup, Bruno; Reversade, Bruno; Paul, Carle; Vincent-Delorme, Catherine; Neiva, Cecilia; Poirsier, Céline; Quélin, Chloé; Chiaverini, Christine; Coubes, Christine; Francannet, Christine; Colson, Cindy; Desplantes, Claire; Wells, Constance; Goizet, Cyril; Sanlaville, Damien; Amram, Daniel; Lehalle, Daphné; Geneviève, David; Gaillard, Dominique; Zivi, Einat; Sarrazin, Elisabeth; Steichen, Elisabeth; Schaefer, Élise; Lacaze, Elodie; Jacquemin, Emmanuel; Bongers, Ernie; Kilic, Esra; Colin, Estelle; Giuliano, Fabienne; Prieur, Fabienne; Laffargue, Fanny; Morice-Picard, Fanny; Petit, Florence; Cartault, François; Feillet, François; Baujat, Geneviève; Morin, Gilles; Diene, Gwenaëlle; Journel, Hubert; Perthus, Isabelle; Lespinasse, James; Alessandri, Jean-Luc; Amiel, Jeanne; Martinovic, Jelena; Delanne, Julian; Albuisson, Juliette; Lambert, Laëtitia; Perrin, Laurence; Ousager, Lilian Bomme; Van Maldergem, Lionel; Pinson, Lucile; Ruaud, Lyse; Samimi, Mahtab; Bournez, Marie; Bonnet-Dupeyron, Marie Noëlle; Vincent, Marie; Jacquemont, Marie-Line; Cordier-Alex, Marie-Pierre; Gérard-Blanluet, Marion; Willems, Marjolaine; Spodenkiewicz, Marta; Doco-Fenzy, Martine; Rossi, Massimiliano; Renaud, Mathilde; Fradin, Mélanie; Mathieu, Michèle; Holder-Espinasse, Muriel H.; Houcinat, Nada; Hanna, Nadine; Leperrier, Nathalie; Chassaing, Nicolas; Philip, Nicole; Boute, Odile; Van Kien, Philippe Khau; Parent, Philippe; Bitoun, Pierre; Sarda, Pierre; Vabres, Pierre; Jouk, Pierre-Simon; Touraine, Renaud; El Chehadeh, Salima; Whalen, Sandra; Marlin, Sandrine; Passemard, Sandrine; Grotto, Sarah; Bellanger, Séverine Audebert; Blesson, Sophie; Nambot, Sophie; Naudion, Sophie; Lyonnet, Stanislas; Odent, Sylvie; Attie-Bitach, Tania; Busa, Tiffany; Drouin-Garraud, Valérie; Layet, Valérie; Bizaoui, Varoona; Cusin, Véronica; Capri, Yline; Alembik, Yves; Jean-Marçais, Nolwenn ; López-Martín, Estrella ; Macek, Milan ; Mencarelli, Maria Antonietta ; Moutton, Sébastien ; Pfundt, Rolph ; Safraou, Hana ; Thauvin-Robinet, Christel ; Thevenon, Julien ; Tran Mau-Them, Frédéric ; de Vries, Bert B.A. ; Willemsen, Marjolein H. ; Philippe, Christophe
In Genetics in Medicine April 2023 25(4)
Academic Journal
Rahimi, Meer Jacob; Urban, Nicole; Wegler, Meret; Sticht, Heinrich; Schaefer, Michael; Popp, Bernt; Gaunitz, Frank; Morleo, Manuela; Nigro, Vincenzo; Maitz, Silvia; Mancini, Grazia M S; Ruivenkamp, Claudia; Suk, Eun-Kyung; Bartolomaeus, Tobias; Merkenschlager, Andreas; Koboldt, Daniel; Bartholomew, Dennis; Stegmann, Alexander P A; Sinnema, Margje; Duynisveld, Irma; Salvarinova, Ramona; Race, Simone; de Vries, Bert B A; Trimouille, Aurélien; Naudion, Sophie; Marom, Daphna; Hamiel, Uri; Henig, Noa; Demurger, Florence; Rahner, Nils; Bartels, Enrika; Hamm, J Austin; Putnam, Abbey M; Person, Richard; Abou Jamra, Rami; Oppermann, Henry
The American Journal of Human Genetics. 109:944-952
Academic Journal
Jedraszak, Guillaume; Jobic, Florence; Receveur, Aline; Bilan, Frédéric; Gilbert-Dussardier, Brigitte; Tiffany, Busa; Missirian, Chantal; Willems, Marjolaine; Odent, Sylvie; Lucas, Josette; Dubourg, Christele; Schaefer, Elise; Scheidecker, Sophie; Lespinasse, James; Goldenberg, Alice; Guerrot, Anne-Marie; Joly-Helas, Géraldine; Chambon, Pascal; Le Caignec, Cédric; David, Albert; Coutton, Charles; Satre, Véronique; Vieville, Gaëlle; Amblard, Florence; Harbuz, Radu; Sanlaville, Damien; Till, Marianne; Vincent-Delorme, Catherine; Colson, Cindy; Andrieux, Joris; Naudion, Sophie; Toutain, Jérome; Rooryck, Caroline; de Fréminville, Bénédicte; Prieur, Fabienne; Daire, Valérie Cormier; Amram, Daniel; Kleinfinger, Pascale; Schulze, Matthias B.; Raabe-Meyer, Gisela; Courage, Carolina; Lemke, Johannes; Stefanou, Eunice G.; Loretta, Thomaidis; Emmanouil, Manolakos; Tzeli, Sophia Kitsiou; Sodowska, Henryka; Anderson, Jasen; Nandini, Adayapalam; Copin, Henri; Garçon, Loïc; Liehr, Thomas; Morin, Gilles
First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients
Academic Journal
Chesneau, Bertrand; Aubert-Mucca, Marion; Fremont, Felix; Pechmeja, Jacmine; Soler, Vincent; Isidor, Bertrand; Nizon, Mathilde; Dollfus, Helene; Kaplan, Josseline; Fares-Taie, Lucas; Rozet, Jean-Michel; Busa, Tiffany; Lacombe, Didier; Naudion, Sophie; Amiel, Jeanne; Rio, Marlene; Attie-Bitach, Tania; Lesage, Cecile; Thouvenin, Dominique; Odent, Sylvie; Morel, Godelieve; Vincent-Delorme, Catherine; Boute, Odile; Vanlerberghe, Clemence; Dieux, Anne; Boussion, Simon; Faivre, Laurence; Pinson, Lucile; Laffargue, Fanny; Le Guyader, Gwenael; Le Meur, Guylène; Prieur, Fabienne; Lambert, Victor; Laudier, Beatrice; Cottereau, Edouard; Ayuso, Carmen; Corton-Perez, Marta; Bouneau, Laurence; Le Caignec, Cedric; Gaston, Veronique; Jeanton-Scaramouche, Claire; Dupin-Deguine, Delphine; Calvas, Patrick; Chassaing, Nicolas; Plaisancie, Julie
Clinical Genetics. 101:494-506
Academic Journal
Journal of Thrombosis and Thrombolysis. 53:557-560
Academic Journal
Mutricy, Rémi ; Matheus, Séverine ; Mosnier, Émilie ; Martinez-Lorenzi, Enguerrane ; De Laval, Franck ; Nacher, Mathieu ; Niemetzky, Florence ; Naudion, Pauline ; Djossou, Félix ; Rousset, Dominique ; Epelboin, Loïc
In Infection, Genetics and Evolution April 2022 99
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