학술논문
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'학술논문'
에서 검색결과 310건 | 목록
1~20
Academic Journal
María del Rocío Pérez Baca; María Palomares-Bralo; Michiel Vanhooydonck; Lisa Hamerlinck; Eva D’haene; Sebastian Leimbacher; Eva Z. Jacobs; Laurenz De Cock; Erika D’haenens; Annelies Dheedene; Zoë Malfait; Lies Vantomme; Ananilia Silva; Kathleen Rooney; Xiaonan Zhao; Amir Hossein Saeidian; Nichole Marie Owen; Fernando Santos-Simarro; Roser Lleuger-Pujol; Sixto García-Miñaúr; Itsaso Losantos-García; Björn Menten; Gaia Gestri; Nicola Ragge; Abbey Scott; Alejandro Iglesias; Allyn McConkie-Rosell; Amy Kritzer; Ana Boto; Andi M. Lewis; Andreas Tzschach; Annarita Nicosia; Anne O’Donnell-Luria; Angela Peron; Ann-Charlotte Thuresson; Anneke Vulto-van-Silfhout; Antonio Novelli; Astrid S. Plomp; Balram Gangaram; Belén Gil-Fournier; Boris Keren; Casie Genetti; Chiara De Luca; Christian P. Schaaf; Claire Beneteau; Daniela Graziani; Daryl A. Scott; David A. Koolen; David Geneviéve; Dorine Bax; Elizabeth J. Leslie; Elizabeth Mizerik; Elizabeth Roeder; Emily Magness; Esther Nibbeling; Gaetan Lesca; Göran Annerén; Gregory M. Enns; Hilde Van Esch; Himanshu Goel; Inés Quintela; Jan Cobben; Jennifer L. Morrison; Jesus Eiris; Joan Stoler; Josephine Gao; Katharina Steindl; Katrina Dipple; Konstantinos Kolokotronis; Laurie H. Seaver; Lynda Pollack; Mahdi Motazacker; Manuela Gasparri; Margje Sinnema; Maria Cristina Digilio; Marie T. McDonald; Marisol Ibarra Ramírez; Martine Doco-Fenzy; Marzena Kucharczyk; Mathilde Nizon; Megan Boothe; Melanie C. O'Leary; Melissa T. Carter; Meredith Ross; Meredith Wilson; Merel Klaassens; Monia Ginevrino; Monica Hsiung Wojcik; Nathaniel Robin; Nicolas Chatron; Odile Boute; Pankaj Agrawal; Paolo Fontana; Paolo Zanoni; Pascal Joset; Pernille M. Torring; Ping Yee Billie Au; Servi Stevens; Soraya Ramiro León; Stephanie Baskin; Stephanie Parker DiTroia; Sue-Faye Siow; Tanguy Demaret; Vasilica Plaiasu; Virginia Clowes; Xi Luo; Yvonne Hilhorst-Hofstee; Bekim Sadikovic; Elke Bogaert; Kris Vleminckx; Thomas Naert; Delfien Syx; Bert Callewaert; Sarah Vergult
American Journal of Human Genetics, 112, 6, pp. 1388-1414
Academic Journal
Kevin Uguen; Tiffany Bergot; Marie-Pier Scott-Boyer; Solène Chapalain; Camille Desdouets; Séverine Commet; Changlian Zhu; Yiran Xu; Yangong Wang; Tony Roscioli; Frederic Tran-Mau-Them; Laurence Faivre; Julien Maraval; Julian Delanne; Anne-Sophie Denommé-Pichon; Antonio Vitobello; Céline Jost; Marc Planes; Susan Hiatt; Patricia Wheeler; Claudia Gonzaga-Jauregui; Heng Wang; Baozhong Xin; Valerie Sency; Michael C. Kruer; Somayeh Bakhtiari; Patrick Sulem; Cynthia Curry; Trine Prescott; Gertrud Strobl-Wildemann; Theresa Brunet; Martine Doco Fenzy; Thomas Courtin; Céline Poirsier; Trine Bjørg Hammer; Christina D. Fenger; Melissa MacPherson; Kosuke Izumi; Jacqueline Leonard; Dong Li; Elaine H. Zackai; Ian A. Glass; Scott Ward; Philippe M. Campeau; Maria Carla Hermida Borroto; Laurence Le Moigno; Hilde Van Esch; Liesbeth De Waele; Daniel G. Calame; James R. Lupski; Giulia Barcia; Cristina Peduto; Pauline Planté-Bordeneuve; Lucie Dupuis; Roberto Mendoza-Londono; Dimitri J. Stavropoulos; Jennifer Gillibert-Duplantier; Thomas Besnard; Laura Do Souto Ferreira; Benjamin Cogné; Stéphane Bézieau; Arnaud Droit; Laurent Corcos; Eric Lippert; Claude Férec; Sebastien Küry; Delphine G. Bernard
Nature Communications, Vol 17, Iss 1 (2026)
Academic Journal
Hildonen, Mathis; Ciolfi, Andrea; Ferilli, Marco; Cappelletti, Camilla; Al Alam, Chadi; Amor, David J.; Barakat, Tahsin Stefan; Benoit, Valérie; Birk, Ohad Shmuel; Callewaert, Bert; Cazurro-Gutiérrez, Ana; De Wachter, Matthias; Doco-Fenzy, Martine; Gómez-Puertas, Paulino; Hammer, Trine Bjørg; Jamra, Rami Abou; Kaiyrzhanov, Rauan; Kameyama, Shinichi; Keren, Boris; Kresge, Christina; Krey, Ilona; Lederer, Damien; Marcos-Alcalde, Iñigo; Maroofian, Reza; Matsumoto, Naomichi; Mizuguchi, Takeshi; Moey, Lip-Hen; Morgan, Angela; Munell, Francina; Platzer, Konrad; Pletcher, Beth A.; Ros-Pardo, David; Rumping, Lynne; Szakszon, Katalin; Van Schil, Kristof; Verdura, Edgard; Vogt, Julie; Wassmer, Evangeline; Zamani, Mina; Tümer, Zeynep; Tartaglia, Marco
European Journal of Human Genetics. :1-8
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
Jeanne M. V. Bang; Christina R. Fagerberg; Thomas K. Doktor; Mia M. Rosenlund; Santiago M. Lumbreras; Mark Burton; Klaus Brusgaard; Ángel Guerra-Moreno; Sofie Høi; Lenet W. Skovstrøm; Nikolaj A. Nielsen; Qin Hao; Carolina Alves; Lars K. Hansen; Melissa Lees; Pim Suwannarat; Connie Stumpel; Margje Sinnema; Alexander P.A Stegmann; Hilde Van Esch; Chiara De Luca; Christine Van Mol; Andrew Green; Dagmar Wieczorek; Jonathan Rodgers; Julie McGaughran; Veronique Duboc; Khaoula Zaafrane-Khachnaoui; Jill Madden; Pankaj Agrawal; Patrick Rump; Blanca Gener; María Jesús Martínez-González; Jean-Marc Good; Giuseppina Vitiello; Francesco Passaretti; Achille Lolascon; Michael Field; Ellenore M. Martin; Boris Keren; Martine Doco-Fenzy; Tony Yammine; Katharina Steindl; Anita Rauch; Anais Begemann; Gregory Costain; Zhuo Shao; Diana Carli; Giovanni Battista Ferrero; Irene Valenzuela; Marta Codina-Solà; Barbara Masotto; Laura Trujillano; Candy Kumps; Olivier Vanakker; Anand Vasudevan; Maria Rita Passos-Bueno; Erasmo Casella; Fernarnda Bonilla Colomé; Laurence Faivre; Christophe Philippe; Marlin Touma; Lee-Kai Wang; Stanley F. Nelson; Marcello Scala; Vincenzo Nigro; Valeria Capra; Kristen Truxal; Valentina Caceres; Jonathan Levy; Vera Kalscheuer; Andrée Delahaye-Duriez; Juan Valcárcel; Michael Sattler; Brage S. Andresen
Academic Journal
Marion Aubert Mucca; Perrine Brunelle; Martine Doco Fenzy; Clémence Vanlerberghe; Anne Dieux; Laura Feyereisen; Florence Jobic; Laurence Lode; Gwenael Le Guyader; Florence Petit; Elise Schaefer; Khaoula Zaafrane‐Khachnaoui; Alban Ziegler; Olivier Patat
Clinical Genetics.
Book
Methods in Molecular Biology ISBN: 9781071647493
Academic Journal
Gorokhova, Svetlana; Rouzier, Cecile; Acquaviva-Bourdain, Cecile; Baert-Desurmont, Stephanie; Caputo, Sandrine; Chatron, Nicolas; Coulet, Florence; Doco-Fenzy, Martine; Keren, Boris; Le Marechal, Cedric; Nicolas, Gael; Procaccio, Vincent; Richard, Pascale; Romanet, Pauline; Snanoudj, Sarah; Muller, Jean; Krahn, Martin; Saugier-Veber, Pascale
médecine/sciences. 40:767-769
Academic Journal
Riquin, Kevin; Isidor, Bertrand; Mercier, Sandra; Nizon, Mathilde; Colin, Estelle; Bonneau, Dominique; Pasquier, Laurent; Odent, Sylvie; Le Guillou Horn, Xavier Maximin; Guyader, Gwenaël Le; Toutain, Annick; Meyer, Vincent; Deleuze, Jean-François; Pichon, Olivier; Doco-Fenzy, Martine; Bézieau, Stéphane; Cogné, Benjamin
Journal of Medical Genetics. 61:47-56
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
Nicolas, Gaël ; Zaréa, Aline ; Lacour, Morgane ; Quenez, Olivier ; Rousseau, Stéphane ; Richard, Anne-Claire ; Bonnevalle, Antoine ; Schramm, Catherine ; Olaso, Robert ; Sandron, Florian ; Boland, Anne ; Deleuze, Jean-François ; Andriuta, Daniela ; Anthony, Pierre ; Auriacombe, Sophie ; Balageas, Anna-Chloé ; Ballan, Guillaume ; Barbay, Mélanie ; Béjot, Yannick ; Belliard, Serge ; Benaiteau, Marie ; Bennys, Karim ; Bombois, Stéphanie ; Boutoleau-Bretonnière, Claire ; Branger, Pierre ; Carlier, Jasmine ; Cartz-Piver, Leslie ; Cassagnaud, Pascaline ; Ceccaldi, Mathieu-Pierre ; Chauviré, Valérie ; Chen, Yaohua ; Cogez, Julien ; Cognat, Emmanuel ; Contegal-Callier, Fabienne ; Corneille, Léa ; Couratier, Philippe ; Cretin, Benjamin ; Crinquette, Charlotte ; Dauriat, Benjamin ; Dautricourt, Sophie ; de la Sayette, Vincent ; de Liège, Astrid ; Deffond, Didier ; Demurger, Florence ; Deramecourt, Vincent ; Derollez, Céline ; Dionet, Elsa ; Doco Fenzy, Martine ; Dumurgier, Julien ; Dutray, Anaïs ; Etcharry-Bouyx, Frédérique ; Formaglio, Maïté ; Gabelle, Audrey ; Gainche-Salmon, Anne ; Godefroy, Olivier ; Graber, Mathilde ; Gregoire, Chloé ; Grimaldi, Stephan ; Gueniat, Julien ; Gueriot, Claude ; Guillet-Pichon, Virginie ; Haffen, Sophie ; Hanta, Cezara-Roxana ; Hardy, Clémence ; Hautecloque, Geoffroy ; Heitz, Camille ; Hourregue, Claire ; Jonveaux, Thérèse ; Jurici, Snejana ; Koric, Lejla ; Krolak-Salmon, Pierre ; Lagarde, Julien ; Lanoiselée, Hélène-Marie ; Laurens, Brice ; Le Ber, Isabelle ; Le Guyader, Gwenaël ; Leblanc, Amélie ; Lebouvier, Thibaud ; Levy, Richard ; Lippi, Anaïs ; Mackowiak, Marie-Anne ; Magnin, Eloi ; Marelli, Cecilia ; Martinaud, Olivier ; Maureille, Aurelien ; Migliaccio, Raffaella ; Milongo-Rigal, Emilie ; Mohr, Sophie ; Mollion, Hélène ; Morin, Alexandre ; Nivelle, Julia ; Noiray, Camille ; Olivieri, Pauline ; Paquet, Claire ; Pariente, Jérémie ; Pasquier, Florence ; Perron, Alexandre ; Philippi, Nathalie ; Planche, Vincent ; Pouclet-Courtemanche, Hélène ; Rafiq, Marie ; Rollin-Sillaire, Adeline ; Roué-Jagot, Carole ; Saracino, Dario ; Sarazin, Marie ; Sauvée, Mathilde ; Sellal, François ; Teichmann, Marc ; Thauvin, Christel ; Thomas, Quentin ; Tisserand, Camille ; Turpinat, Cédric ; Van Damme, Laurène ; Vercruysse, Olivier ; Villain, Nicolas ; Wagemann, Nathalie ; Charbonnier, Camille ; Wallon, David
In Genetics in Medicine May 2024 26(5)
Academic Journal
Lesieur-Sebellin, Marion; Wigby, Kristen; Schaefer, Elise; Gouronc, Aurelie; Chatron, Nicolas; Poulat, Anne-Lise; Putoux, Audrey; Goldenberg, Alice; Quibeuf, Mathilde; Chambon, Pascal; Rondeau, Sophie; Barcia, Giulia; Levy, Jonathan; Piard, Juliette; Kuentz, Paul; Doco-Fenzy, Martine; Bednarek, Nathalie; Caumes, Roseline; Bouquillon, Sonia; Le Caignec, Cedric; Patat, Olivier; Khau Van Kien, Philippe; Chiesa, Jean; Delplancq, Geoffroy; Bacrot, Severine; Brisset, Sophie; Ginglinger, Emmanuelle; Cantagrel, Vincent; Lenberg, Jerica; Friedman, Jennifer R.; Rio, Marlene; Scheidecker, Sophie; Malan, Valerie
Academic Journal
Engel, Camille; Valence, Stéphanie; Delplancq, Geoffroy; Maroofian, Reza; Accogli, Andrea; Agolini, Emanuele; Alkuraya, Fowzan S.; Baglioni, Valentina; Bagnasco, Irene; Becmeur-Lefebvre, Mathilde; Bertini, Enrico; Borggraefe, Ingo; Brischoux-Boucher, Elise; Bruel, Ange-Line; Brusco, Alfredo; Bubshait, Dalal K.; Cabrol, Christelle; Cilio, Maria Roberta; Cornet, Marie-Coralie; Coubes, Christine; Danhaive, Olivier; Delague, Valérie; Denommé-Pichon, Anne-Sophie; Di Giacomo, Marilena Carmela; Doco-Fenzy, Martine; Engels, Hartmut; Cremer, Kirsten; Gérard, Marion; Gleeson, Joseph G.; Heron, Delphine; Goffeney, Joanna; Guimier, Anne; Harms, Frederike L.; Houlden, Henry; Iacomino, Michele; Kaiyrzhanov, Rauan; Kamien, Benjamin; Karimiani, Ehsan Ghayoor; Kraus, Dror; Kuentz, Paul; Kutsche, Kerstin; Lederer, Damien; Massingham, Lauren; Mignot, Cyril; Morris-Rosendahl, Déborah; Nagarajan, Lakshmi; Odent, Sylvie; Ormières, Clothilde; Partlow, Jennifer Neil; Pasquier, Laurent; Penney, Lynette; Philippe, Christophe; Piccolo, Gianluca; Poulton, Cathryn; Putoux, Audrey; Rio, Marlène; Rougeot, Christelle; Salpietro, Vincenzo; Scheffer, Ingrid; Schneider, Amy; Srivastava, Siddharth; Straussberg, Rachel; Striano, Pasquale; Valente, Enza Maria; Venot, Perrine; Villard, Laurent; Vitobello, Antonio; Wagner, Johanna; Wagner, Matias; Zaki, Maha S.; Zara, Federizo; Lesca, Gaetan; Yassaee, Vahid Reza; Miryounesi, Mohammad; Hashemi-Gorji, Farzad; Beiraghi, Mehran; Ashrafzadeh, Farah; Galehdari, Hamid; Walsh, Christopher; Novelli, Antonio; Tacke, Moritz; Sadykova, Dinara; Maidyrov, Yerdan; Koneev, Kairgali; Shashkin, Chingiz; Capra, Valeria; Zamani, Mina; Van Maldergem, Lionel; Burglen, Lydie; Piard, Juliette
European Journal of Human Genetics. 31(9):1023-1031
Conference
Doco-Fenzy, Martine; Pichon, Olivier; Vasheghani, Faezeh; Landais, Émilie; Yammine, T; Bernard, Sylvie; Celine, Poirsier; Le Du, Nathalie; Jauffret, Vincent; Celton, Noémie; Moradkhani, Kamran; Gruchy, Nicolas; Guichet, Agnés; Jaillard, Sylvie; Odent, Sylvie; Vincent, Marie; Nizon, Mathilde; Isidor, Bertrand; Mercier, Sandra; Bonnet, Céline; Belaud-Rotureau, Marc-Antoine; Jacquin, Clémence; Bednarek, Nathalie; Lévy, Jonathan; Lambert, Laëtitia; Dexheimer, Mylene; Bézieau, Stéphane
Academic Journal
Jacquin, Clémence; Landais, Emilie; Poirsier, Céline; Afenjar, Alexandra; Akhavi, Ahmad; Bednarek, Nathalie; Bénech, Caroline; Bonnard, Adeline; Bosquet, Damien; Burglen, Lydie; Callier, Patrick; Chantot-Bastaraud, Sandra; Coubes, Christine; Coutton, Charles; Delobel, Bruno; Descharmes, Margaux; Dupont, Jean‐michel; Gatinois, Vincent; Gruchy, Nicolas; Guterman, Sarah; Heddar, Abdelkader; Herissant, Lucas; Heron, Delphine; Isidor, Bertrand; Jaeger, Pauline; Jouret, Guillaume; Keren, Boris; Kuentz, Paul; Le Caignec, Cedric; Levy, Jonathan; Lopez, Nathalie; Manssens, Zoe; Martin-Coignard, Dominique; Marey, Isabelle; Mignot, Cyril; Missirian, Chantal; Pebrel-Richard, Céline; Pinson, Lucile; Puechberty, Jacques; Redon, Sylvia; Sanlaville, Damien; Spodenkiewicz, Marta; Tabet, Anne‐claude; Verloes, Alain; Vieville, Gaelle; Yardin, Catherine; Vialard, François; Doco-Fenzy, Martine
Am J Med Genet A
Academic Journal
Guillaume Jouret; Matthieu Egloff; Emilie Landais; Olivier Tassy; Fabienne Giuliano; Houda Karmous‐Benailly; Charles Coutton; Véronique Satre; Françoise Devillard; Klaus Dieterich; Gaëlle Vieville; Paul Kuentz; Cédric le Caignec; Claire Beneteau; Bertrand Isidor; Mathilde Nizon; Patrick Callier; Valentine Marquet; Eric Bieth; Jonathan Lévy; Anne‐Claude Tabet; Stanislas Lyonnet; Geneviève Baujat; Marlène Rio; François Cartault; Sophie Scheidecker; Aurélie Gouronc; Audrey Schalk; Clémence Jacquin; Marta Spodenkiewicz; Chloé Angélini; Perrine Pennamen; Caroline Rooryck; Martine Doco‐Fenzy; Céline Poirsier
American Journal of Medical Genetics Part A. 191:52-63
Academic Journal
Tebani, Abdellah; Sudrié-Arnaud, Bénédicte; Dabaj, Ivana; Torre, Stéphanie; Domitille, Laur; Snanoudj, Sarah; Heron, Benedicte; Levade, Thierry; Caillaud, Catherine; Vergnaud, Sabrina; Saugier-Veber, Pascale; Coutant, Sophie; Dranguet, Hélène; Froissart, Roseline; Al Khouri, Majed; Alembik, Yves; Baruteau, Julien; Arnoux, Jean-Baptiste; Brassier, Anais; Brehin, Anne-Claire; Busa, Tiffany; Cano, Aline; Chabrol, Brigitte; Coubes, Christine; Desguerre, Isabelle; Doco-Fenzy, Martine; Drenou, Bernard; Elcioglu, Nursel; Elsayed, Solaf; Fouilhoux, Alain; Poirsier, Céline; Goldenberg, Alice; Jouvencel, Philippe; Kuster, Alice; Labarthe, François; Lazaro, Leila; Pichard, Samia; Rivera, Serge; Roche, Sandrine; Roggerone, Stéphanie; Roubertie, Agathe; Sigaudy, Sabine; Spodenkiewicz, Marta; Tardieu, Marine; Vanhulle, Catherine; Marret, Stéphane; Bekri, Soumeya
Journal of Medical Genetics. 59:377-384
Academic Journal
Lançon, Allan ; Beaudouin, Amandine ; Lambert, Laetitia ; Baurand, Amandine ; Petit, Estelle ; Schaefer, Elise ; Poirsier, Céline ; Piard, Juliette ; Patay, Léa ; Garde, Aurore ; Bournez, Marie ; Bertolone, Geoffrey ; Kastner, Claire ; Tempé, Laurine ; El Chehadeh, Salima ; Spodenkiewick, Marta ; Lissy, Lola ; Doco-Fenzy, Martine ; Cabrol, Christelle ; Trouvé, Chloé ; Brischoux, Elise Boucher ; Cloteau, Mélanie ; Burtin, Alexia ; Renaud, Mathilde ; Riviere, Axelle ; Thomas, Quentin ; De Souza, Clément Simao ; Sawka, Caroline ; Racine, Caroline ; Robert, Marion ; Gautier, Elodie ; Delanne, Julian ; Bertaut, Aurélie ; Thauvin-Robinet, Christel ; Faivre, Laurence ; Nambot, Sophie
In European Journal of Medical Genetics October 2023 66(10)
Academic Journal
Maria Bejerholm Christensen; Amanda M. Levy; Nazanin A. Mohammadi; Marcello Niceta; Rauan Kaiyrzhanov; Maria Lisa Dentici; Chadi Al Alam; Viola Alesi; Valérie Benoît; Kailash P. Bhatia; Tatjana Bierhals; Christian Malte Boßelmann; Julien Buratti; Bert Callewaert; Berten Ceulemans; Perrine Charles; Matthias De Wachter; Mohammadreza Dehghani; Erika D'haenens; Martine Doco‐Fenzy; Michaela Geßner; Cyrielle Gobert; Ulviyya Guliyeva; Tobias B. Haack; Trine Bjørg Hammer; T. Heinrich; Maja Hempel; Theresia Herget; Ute Hoffmann; Judit Horváth; Henry Houlden; Boris Keren; Christina Kresge; Candy Kumps; Damien Lederer; Alban Lermine; Francesca Magrinelli; Reza Maroofian; Mohammad Yahya Vahidi Mehrjardi; Mahdiyeh Moudi; Amelie J. Müller; Anna Oostra; Beth A. Pletcher; David Ros‐Pardo; Shanika Samarasekera; Marco Tartaglia; Kristof Van Schil; Julie Vogt; Evangeline Wassmer; Juliane Winkelmann; Maha S. Zaki; Michael Zech; Holger Lerche; Francesca Clementina Radio; Paulino Gómez‐Puertas; Rikke S. Møller; Zeynep Tümer
Clin Genet
Digital.CSIC. Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
Clinical genetics
Christensen, M B, Levy, A M, Mohammadi, N A, Niceta, M, Kaiyrzhanov, R, Dentici, M L, Al Alam, C, Alesi, V, Benoit, V, Bhatia, K P, Bierhals, T, Boßelmann, C M, Buratti, J, Callewaert, B, Ceulemans, B, Charles, P, De Wachter, M, Dehghani, M, D'haenens, E,Doco -Fenzy , M, Geßner, M, Gobert, C, Guliyeva, U, Haack, T B, Hammer, T B, Heinrich, T, Hempel, M, Herget, T, Hoffmann, U, Horvath, J, Houlden, H, Keren, B, Kresge, C, Kumps, C, Lederer, D, Lermine, A, Magrinelli, F, Maroofian, R, Vahidi Mehrjardi, M Y, Moudi, M, Müller, A J, Oostra, A J, Pletcher, B A, Ros-Pardo, D, Samarasekera, S, Tartaglia, M, Van Schil, K, Vogt, J, Wassmer, E, Winkelmann, J, Zaki, M S, Zech, M, Lerche, H, Radio, F C, Gomez-Puertas, P, Møller, R S & Tümer, Z 2022, ' Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder ', Clinical Genetics, vol. 102, no. 2, pp. 98-109 . https://doi.org/10.1111/cge.14165
Clin. Genet. 102, 98-109 (2022)
CLINICAL GENETICS
Digital.CSIC. Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
Clinical genetics
Christensen, M B, Levy, A M, Mohammadi, N A, Niceta, M, Kaiyrzhanov, R, Dentici, M L, Al Alam, C, Alesi, V, Benoit, V, Bhatia, K P, Bierhals, T, Boßelmann, C M, Buratti, J, Callewaert, B, Ceulemans, B, Charles, P, De Wachter, M, Dehghani, M, D'haenens, E,
Clin. Genet. 102, 98-109 (2022)
CLINICAL GENETICS
Academic Journal
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In Genetics in Medicine April 2023 25(4)
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