학술논문
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'학술논문'
에서 검색결과 405건 | 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
Caroline Nava; Benjamin Cogne; Amandine Santini; Elsa Leitão; François Lecoquierre; Yuyang Chen; Sarah L. Stenton; Thomas Besnard; Solveig Heide; Sarah Baer; Abhilasha Jakhar; Sonja Neuser; Boris Keren; Anne Faudet; Sylvie Forlani; Marie Faoucher; Kevin Uguen; Konrad Platzer; Alexandra Afenjar; Jean-Luc Alessandri; Stephanie Andres; Chloé Angelini; Bernard Aral; Benoit Arveiler; Tania Attie-Bitach; Marion Aubert Mucca; Guillaume Banneau; Tahsin Stefan Barakat; Giulia Barcia; Stéphanie Baulac; Claire Beneteau; Fouzia Benkerdou; Virginie Bernard; Stéphane Bézieau; Dominique Bonneau; Marie-Noelle Bonnet-Dupeyron; Simon Boussion; Odile Boute; Elise Brischoux-Boucher; Samantha J. Bryen; Julien Buratti; Tiffany Busa; Almuth Caliebe; Yline Capri; Kévin Cassinari; Roseline Caumes; Camille Cenni; Pascal Chambon; Perrine Charles; John Christodoulou; Cindy Colson; Solène Conrad; Auriane Cospain; Juliette Coursimault; Thomas Courtin; Madeline Couse; Charles Coutton; Isabelle Creveaux; Alissa M. D’Gama; Benjamin Dauriat; Jean-Madeleine de Sainte Agathe; Giulia Del Gobbo; Andrée Delahaye-Duriez; Julian Delanne; Anne-Sophie Denommé-Pichon; Anne Dieux-Coeslier; Laura Do Souto Ferreira; Martine Doco-Fenzy; Stephan Drukewitz; Véronique Duboc; Christèle Dubourg; Yannis Duffourd; David Dyment; Salima El Chehadeh; Monique Elmaleh; Laurence Faivre; Samuel Fennelly; Hanna Fischer; Mélanie Fradin; Camille Galludec Vaillant; Benjamin Ganne; Jamal Ghoumid; Himanshu Goel; Zeynep Gokce-Samar; Alice Goldenberg; Romain Gonfreville Robert; Svetlana Gorokhova; Louise Goujon; Victoria Granier; Mathilde Gras; John M. Greally; Bianca Greiten; Paul Gueguen; Anne-Marie Guerrot; Saurav Guha; Anne Guimier; Tobias B. Haack; Hamza Hadj Abdallah; Yosra Halleb; Radu Harbuz; Madeleine Harris; Julia Hentschel; Bénédicte Héron; Marc-Phillip Hitz; A. Micheil Innes; Vincent Jadas; Louis Januel; Nolwenn Jean-Marçais; Vaidehi Jobanputra; Florence Jobic; Ludmila Jornea; Céline Jost; Sophie Julia; Frank J. Kaiser; Daniel Kaschta; Sabine Kaya; Petra Ketteler; Bochra Khadija; Fabian Kilpert; Cordula Knopp; Florian Kraft; Ilona Krey; Marilyn Lackmy; Fanny Laffargue; Laetitia Lambert; Ryan Lamont; Vincent Laugel; Steven Laurie; Julie L. Lauzon; Louis Lebreton; Marine Lebrun; Marine Legendre; Eric Leguern; Daphné Lehalle; Elodie Lejeune; Gaetan Lesca; Marion Lesieur-Sebellin; Jonathan Levy; Agnès Linglart; Stanislas Lyonnet; Kevin Lüthy; Alan S. Ma; Corinne Mach; Jean-Louis Mandel; Lamisse Mansour-Hendili; Julien Marcadier; Victor Marin; Henri Margot; Valentine Marquet; Angèle May; Johannes A. Mayr; Catherine Meridda; Vincent Michaud; Caroline Michot; Gwenael Nadeau; Sophie Naudion; Laetitia Nguyen; Mathilde Nizon; Frédérique Nowak; Sylvie Odent; Valerie Olin; Ikeoluwa A. Osei-Owusu; Matthew Osmond; Katrin Õunap; Laurent Pasquier; Sandrine Passemard; Melissa Pauly; Olivier Patat; Marine Pensec; Laurence Perrin-Sabourin; Florence Petit; Christophe Philippe; Marc Planes; Annapurna Poduri; Céline Poirsier; Antoine Pouzet; Bradley Prince; Clément Prouteau; Aurora Pujol; Caroline Racine; Mélanie Rama; Francis Ramond; Kara Ranguin; Margaux Raway; André Reis; Mathilde Renaud; Nicole Revencu; Anne-Claire Richard; Lucile Riera-Navarro; Rocio Rius; Diana Rodriguez; Agustí Rodriguez-Palmero; Sophie Rondeau; Annika Roser-Unruh; Christelle Rougeot Jung; Hana Safraou; Véronique Satre; Pascale Saugier-Veber; Clément Sauvestre; Elise Schaefer; Wanqing Shao; Ina Schanze; Jan-Ulrich Schlump; Agatha Schlüter Martin; Caroline Schluth-Bolard; Sarah Schuhmann; Christopher Schröder; Monisha Sebastin; Sabine Sigaudy; Malte Spielmann; Marta Spodenkiewicz; Laura St Clair; Julie Steffann; Radka Stoeva; Harald Surowy; Mark A. Tarnopolsky; Calina Todosi; Annick Toutain; Frédéric Tran Mau-Them; Astrid Unterlauft; Julien Van-Gils; Clémence Vanlerberghe; Georgia Vasileiou; Gabriella Vera; André Verdel; Alain Verloes; Yoann Vial; Cédric Vignal; Marie Vincent; Catherine Vincent-Delorme; Aline Vincent-Devulder; Antonio Vitobello; Sacha Weber; Marjolaine Willems; Khaoula Zaafrane-Khachnaoui; Pia Zacher; Lena Zeltner; Alban Ziegler; Wojciech P. Galej; Hélène Dollfus; Christel Thauvin; Kym M. Boycott; Pierre Marijon; Alban Lermine; Valérie Malan; Marlène Rio; Alma Kuechler; Bertrand Isidor; Séverine Drunat; Thomas Smol; Nicolas Chatron; Amélie Piton; Gael Nicolas; Matias Wagner; Rami Abou Jamra; Delphine Héron; Cyril Mignot; Pierre Blanc; Anne O’Donnell-Luria; Nicola Whiffin; Camille Charbonnier; Clément Charenton; Julien Thevenon; Christel Depienne
Nat Genet
Nature Genetics
Nature Genetics
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
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
Faqeih, Eissa A. ; Alghamdi, Malak Ali ; Almahroos, Marwa A. ; Alharby, Essa ; Almuntashri, Makki ; Alshangiti, Amnah M. ; Clément, Prouteau ; Calame, Daniel G. ; Qebibo, Leila ; Burglen, Lydie ; Doco-Fenzy, Martine ; Mastrangelo, Mario ; Torella, Annalaura ; Manti, Filippo ; Nigro, Vincenzo ; Alban, Ziegler ; Alharbi, Ghadeer Saleh ; Hashmi, Jamil Amjad ; Alraddadi, Rawya ; Alamri, Razan ; Mitani, Tadahiro ; Magalie, Barth ; Coban-Akdemir, Zeynep ; Geckinli, Bilgen Bilge ; Pehlivan, Davut ; Romito, Antonio ; Karageorgou, Vasiliki ; Martini, Javier ; Colin, Estelle ; Bonneau, Dominique ; Bertoli-Avella, Aida ; Lupski, James R. ; Pastore, Annalisa ; Peake, Roy W.A. ; Dallol, Ashraf ; Alfadhel, Majid ; Almontashiri, Naif A.M.
In Genetics in Medicine February 2023 25(2)
Academic Journal
AL Soilly; C Robert-Viard; C Besse; AL Bruel; B Gerard; A Boland; A Piton; Y Duffourd; J Muller; C Poë; T Jouan; S El Doueiri; L Faivre; D Bacq-Daian; B Isidor; D Genevieve; S Odent; N Philip; M Doco-Fenzy; D Lacombe; ML Asensio; JF Deleuze; C Binquet; DISSEQ Investigators Group; C Thauvin-Robinet; C Lejeune
BMC Health Services Research, Vol 23, Iss 1, Pp 1-11 (2023)
Academic Journal
Martin-Brevet, Sandra; Rodríguez-Herreros, Borja; Nielsen, Jared A.; Moreau, Clara; Modenato, Claudia; Maillard, Anne M.; Pain, Aurélie; Richetin, Sonia; Jønch, Aia E.; Qureshi, Abid Y.; Zürcher, Nicole R.; Conus, Philippe; Chung, Wendy K.; Sherr, Elliott H.; Spiro, John E.; Kherif, Ferath; Beckmann, Jacques S.; Hadjikhani, Nouchine; Reymond, Alexandre; Buckner, Randy L.; Draganski, Bogdan; Jacquemont, Sébastien; Addor, Marie-Claude; Andrieux, Joris; Arveiler, Benoît; Baujat, Geneviève; Sloan-Béna, Frédérique; Belfiore, Marco; Bonneau, Dominique; Bouquillon, Sonia; Boute, Odile; Brusco, Alfredo; Busa, Tiffany; Caberg, Jean-Hubert; Campion, Dominique; Colombert, Vanessa; Cordier, Marie-Pierre; David, Albert; Debray, François-Guillaume; Delrue, Marie-Ange; Doco-Fenzy, Martine; Dunkhase-Heinl, Ulrike; Edery, Patrick; Fagerberg, Christina; Faivre, Laurence; Forzano, Francesca; Genevieve, David; Gérard, Marion; Giachino, Daniela; Guichet, Agnès; Guillin, Olivier; Héron, Delphine; Isidor, Bertrand; Jacquette, Aurélia; Jaillard, Sylvie; Journel, Hubert; Keren, Boris; Lacombe, Didier; Lebon, Sébastien; Le Caignec, Cédric; Lemaître, Marie-Pierre; Lespinasse, James; Mathieu-Dramart, Michèle; Mercier, Sandra; Mignot, Cyril; Missirian, Chantal; Petit, Florence; Pilekær Sørensen, Kristina; Pinson, Lucile; Plessis, Ghislaine; Prieur, Fabienne; Rooryck-Thambo, Caroline; Rossi, Massimiliano; Sanlaville, Damien; Schlott Kristiansen, Britta; Schluth-Bolard, Caroline; Till, Marianne; Van Haelst, Mieke; Van Maldergem, Lionel; Alupay, Hanalore, BS; Aaronson, Benjamin, BS; Ackerman, Sean, MD; Ankenman, Katy, MSW; Anwar, Ayesha, BA; Atwell, Constance, PhD; Bowe, Alexandra, BA; Beaudet, Arthur L., MD; Benedetti, Marta, PhD; Berg, Jessica, MS; Berman, Jeffrey, PhD; Berry, Leandra N., PhD; Bibb, Audrey L., MS; Blaskey, Lisa, PhD; Brennan, Jonathan, PhD; Brewton, Christie M., BS; Buckner, Randy, PhD; Bukshpun, Polina, BA; Burko, Jordan, BA; Cali, Phil, EdS; Cerban, Bettina, BA; Chang, Yishin, MS; Cheong, Maxwell, BE, MS; Chow, Vivian, BA; Chu, Zili, PhD; Chudnovskaya, Darina, BS; Cornew, Lauren, PhD; Dale, Corby, PhD; Dell, John, BS; Dempsey, Allison G., PhD; Deschamps, Trent, BS; Earl, Rachel, BA; Edgar, James, PhD; Elgin, Jenna, BS; Olson, Jennifer Endre, PsyD; Evans, Yolanda L., MA; Findlay, Anne, MA; Fischbach, Gerald D., MD; Fisk, Charlie, BS; Fregeau, Brieana, BA; Gaetz, Bill, PhD; Gaetz, Leah, MSW, BSW, BA; Garza, Silvia, BA; Gerdts, Jennifer, PhD; Glenn, Orit, MD; Gobuty, Sarah E., MS, CGC; Golembski, Rachel, BS; Greenup, Marion, MPH, MEd; Heiken, Kory, BA; Hines, Katherine, BA; Hinkley, Leighton, PhD; Jackson, Frank I., BS; Jenkins, Julian, III, PhD; Jeremy, Rita J., PhD; Johnson, Kelly, PhD; Kanne, Stephen M., PhD; Kessler, Sudha, MD; Khan, Sarah Y., BA; Ku, Matthew, BS; Kuschner, Emily, PhD; Laakman, Anna L., MEd; Lam, Peter, BS; Lasala, Morgan W., BA; Lee, Hana, MPH; LaGuerre, Kevin, MS; Levy, Susan, MD; Cavanagh, Alyss Lian, MA; Llorens, Ashlie V., BS; Campe, Katherine Loftus, MEd; Luks, Tracy L., PhD; Marco, Elysa J., MD; Martin, Stephen, BS; Martin, Alastair J., PhD; Marzano, Gabriela, HS; Masson, Christina, BFA; McGovern, Kathleen E., BS; McNally Keehn, Rebecca, PhD; Miller, David T., MD, PhD; Miller, Fiona K., PhD; Moss, Timothy J., MD, PhD; Murray, Rebecca, BA; Nagarajan, Srikantan S., PhD; Nowell, Kerri P., MA; Owen, Julia, PhD; Paal, Andrea M., MS; Packer, Alan, PhD; Page, Patricia Z., MS; Paul, Brianna M., PhD; Peters, Alana, BS; Peterson, Danica, MPH; Poduri, Annapurna, PhD; Pojman, Nicholas J., BS; Porche, Ken, MS; Proud, Monica B., MD; Qasmieh, Saba, BA; Ramocki, Melissa B., MD, PhD; Reilly, Beau, PhD; Roberts, Timothy P.L., PhD; Shaw, Dennis, MD; Sinha, Tuhin, PhD; Smith-Packard, Bethanny, MS, CGC; Gallagher, Anne Snow, PhD; Swarnakar, Vivek, PhD; Thieu, Tony, BA, MS; Triantafallou, Christina, PhD; Vaughan, Roger, PhD; Wakahiro, Mari, MSW; Wallace, Arianne, PhD; Ward, Tracey, BS; Wenegrat, Julia, MA; Wolken, Anne, BS
Biological Psychiatry. 84(4):253-264
Academic Journal
V, Marchal; P-F, Souchon; N, Bednarek; A, De Aquino; E, Landais; M, Doco-Fenzy; M, Viguier; L, Gusdorf
Annales de Dermatologie et de Vénéréologie. 150:238-240
Academic Journal
François, C.; Poli-Merol, M.L.; Tournois, C.; Cornillet-Lefebvre, P.; Guillard, T.; Djerada, Z.; Doco Fenzy, M.; Nguyen, P.
British Journal of Oral & Maxillofacial Surgery. 55(5):488-495
Academic Journal
Cárdenas-de-la-Parra, Alonso; Martin-Brevet, Sandra; Moreau, Clara; Rodriguez-Herreros, Borja; Fonov, Vladimir S.; Maillard, Anne M.; Zürcher, Nicole R.; Hadjikhani, Nouchine; Beckmann, Jacques S.; Reymond, Alexandre; Draganski, Bogdan; Jacquemont, Sébastien; Collins, D. Louis; Addor, Marie-Claude; Andrieux, Joris; Arveiler, Benoît; Baujatm, Geneviève; Sloan-Bénan, Frédérique; Belfiore, Marco; Bonneau, Dominique; Bouquillon, Sonia; Boute, Odile; Brusco, Alfredo; Busa, Tiffany; Caberg, Jean-Hubert; Campion, Dominique; Colombert, Vanessa; Cordier, Marie-Pierre; David, Albert; Debray, François-Guillaume; Delrue, Marie-Ange; Doco-Fenzy, Martine; Dunkhase-Heinl, Ulrike; Edery, Patrick; Fagerberg, Christina; Faivre, Laurence; Forzano, Francesca; Genevieve, David; Gérard, Marion; Giachino, Daniela; Guichet, Agnès; Guillin, Olivier; Héron, Delphine; Isidor, Bertrand; Jacquette, Aurélia; Jaillard, Sylvie; Journel, Hubert; Keren, Boris; Lacombe, Didier; Lebon, Sébastien; Le Caignec, Cédric; Lemaître, Marie-Pierre; Lespinasse, James; Mathieu-Dramart, Michèle; Mercier, Sandra; Mignot, Cyril; Missirian, Chantal; Petit, Florence; Pilekær Sørensen, Kristina; Pinson, Lucile; Plessis, Ghislaine; Prieur, Fabienne; Rooryck-Thambo, Caroline; Rossi, Massimiliano; Sanlaville, Damien; Schlott Kristiansen, Britta; Schluth-Bolard, Caroline; Till, Marianne; Van Haelst, Mieke; Van Maldergem, Lionel
NeuroImage. 203
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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
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CLINICAL GENETICS
Digital.CSIC. Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
Clinical genetics
Christensen,
Clin. Genet. 102, 98-109 (2022)
CLINICAL GENETICS
Academic Journal
Hippolyte, Loyse; Maillard, Anne M.; Rodriguez-Herreros, Borja; Pain, Aurélie; Martin-Brevet, Sandra; Ferrari, Carina; Conus, Philippe; Macé, Aurélien; Hadjikhani, Nouchine; Metspalu, Andres; Reigo, Anu; Kolk, Anneli; Männik, Katrin; Barker, Mandy; Isidor, Bertrand; Le Caignec, Cédric; Mignot, Cyril; Schneider, Laurence; Mottron, Laurent; Keren, Boris; David, Albert; Doco-Fenzy, Martine; Gérard, Marion; Bernier, Raphael; Goin-Kochel, Robin P.; Hanson, Ellen; Green Snyder, LeeAnne; Ramus, Franck; Beckmann, Jacques S.; Draganski, Bogdan; Reymond, Alexandre; Jacquemont, Sébastien
Biological Psychiatry. 80(2):129-139
Academic Journal
Smrithi Salian; Marcello Scala; Thi Tuyet Mai Nguyen; Mariasavina Severino; Andrea Accogli; Elisabetta Amadori; Annalaura Torella; Michele Pinelli; Beth Hudson; Megan Boothe; Anna Hurst; Tawfeg Ben‐Omran; Martin J. Larsen; Christina R. Fagerberg; Lene Sperling; Ieva Miceikaite; Lucas Herissant; Martine Doco‐Fenzy; Mélanie Jennesson; Vincenzo Nigro; Pasquale Striano; Carlo Minetti; Rani K. Sachdev; Emma Elizabeth Palmer; Valeria Capra; Philippe M. Campeau
Salian, S, Scala, M , Nguyen, T T M , Severino, M , Accogli, A, Amadori, E, Torella, A, Pinelli, M , Hudson, B, Boothe, M , Hurst, A, Ben-Omran, T, Larsen, M J, Fagerberg, C R, Sperling, L, Miceikaite, I, Herissant, L, Doco -Fenzy , M , Jennesson, M , Nigro, V, Striano, P, Minetti, C, Sachdev, R K, Palmer, E E, Capra, V & Campeau, P M 2021, ' Epileptic encephalopathy caused by ARV1 deficiency : refinement of the genotype-phenotype spectrum and functional impact on GPI-anchored proteins ', Clinical Genetics, vol. 100, no. 5, pp. 607-614 . https://doi.org/10.1111/cge.14033
Academic Journal
International Journal of Pediatric Otorhinolaryngology. 78(10):1579-1585
Academic Journal
In Gynécologie Obstétrique Fertilité & Sénologie March 2017 45(3):152-157
Academic Journal
Loviglio, Maria Nicla; Jønch, Aia Elise; Popadin, Konstantin; Giannuzzi, Giuliana; Maillard, Anne M.; Fagerberg, Christina; Andersen, Charlotte Brasch; Doco-Fenzy, Martine; Delrue, Marie-Ange; Faivre, Laurence; Arveiler, Benoit; Geneviève, David; Schneider, Anouck; Gerard, Marion; Andrieux, Joris; El Chehadeh, Salima; Schaefer, Elise; Depienne, Christel; Van Haelst, Mieke; Brilstra, Eva H.; Van Binsbergen, Ellen; van Harssel, Jeske; van der Veken, Lars T.; Gusella, James F.; Shen, Yiping; Mitchell, Elyse; Kini, Usha; Hawkes, Lara; Campbell, Carolyn; Butschi, Florence Niel; Addor, Marie-Claude; Beckmann, Jacques S.; Jacquemont, Sébastien; Reymond, Alexandre; Arbogast, Thomas ; Collins, Stephan C. ; Bonnet, Camille S. ; Yalcin, Binnaz ; Katsanis, Nicholas ; Golzio, Christelle
In The American Journal of Human Genetics 5 October 2017 101(4):564-577
Academic Journal
Cavallin, Mara; Rujano, Maria A.; Bednarek, Nathalie; Medina-Cano, Daniel; Bernabe Gelot, Antoinette; Drunat, Severine; Maillard, Camille; Garfa-Traore, Meriem; Bole, Christine; Nitschké, Patrick; Beneteau, Claire; Besnard, Thomas; Cogné, Benjamin; Eveillard, Marion; Kuster, Alice; Poirier, Karine; Verloes, Alain; Martinovic, Jelena; Bidat, Laurent; Rio, Marlene; Lyonnet, Stanislas; Reilly, M. Louise; Boddaert, Nathalie; Jenneson-Liver, Melanie; Motte, Jacques; Doco-Fenzy, Martine; Chelly, Jamel; Attie-Bitach, Tania; Simons, Matias; Cantagrel, Vincent; Passemard, Sandrine; Baffet, Alexandre; Thomas, Sophie; Bahi-Buisson, Nadia
Brain. Oct 01, 2017 140(10):2597-2609
Academic Journal
Modenato, C.; Kumar, K.; Moreau, C.; Martin-Brevet, S.; Huguet, G.; Schramm, C.; Jean-Louis, M.; Martin, C.-O.; Younis, N.; Tamer, P.; Douard, E.; Thébault-Dagher, F.; Côté, V.; Charlebois, A.-R.; Deguire, F.; Maillard, A.M.; Rodriguez-Herreros, B.; Pain, A.; Richetin, S.; Addor, M.-C.; Andrieux, J.; Arveiler, B.; Baujat, G.; Sloan-Béna, F.; Belfiore, M.; Bonneau, D.; Bouquillon, S.; Boute, O.; Brusco, A.; Busa, T.; CABERG, Jean-Hubert; Campion, D.; Colombert, V.; Cordier, M.-P.; David, A.; Debray, François-Guillaume; Delrue, M.-A.; Doco-Fenzy, M.; Dunkhase-Heinl, U.; Edery, P.; Fagerberg, C.; Faivre, L.; Forzano, F.; Genevieve, D.; Gérard, M.; Giachino, D.; Guichet, A.; Guillin, O.; Héron, D.; Isidor, B.; Jacquette, A.; Jaillard, S.; Journel, H.; Keren, B.; Lacombe, D.; Lebon, S.; Le Caignec, C.; Lemaître, M.-P.; Lespinasse, J.; Mathieu-Dramart, M.; Mercier, S.; Mignot, C.; Missirian, C.; Petit, F.; Pilekær Sørensen, K.; Pinson, L.; Plessis, G.; Prieur, F.; Raymond, A.; Rooryck-Thambo, C.; Rossi, M.; Sanlaville, D.; Schlott Kristiansen, B.; Schluth-Bolard, C.; Till, M.; Van Haelst, M.; Van Maldergem, L.; Alupay, H.; Aaronson, B.; Ackerman, S.; Ankenman, K.; Anwar, A.; Atwell, C.; Bowe, A.; Beaudet, A.L.; Benedetti, M.; Berg, J.; Berman, J.; Berry, L.N.; Bibb, A.L.; Blaskey, L.; Brennan, J.; Brewton, C.M.; Buckner, R.; Bukshpun, P.; Burko, J.; Cali, P.; Cerban, B.; Chang, Y.; Cheong, M.; Chow, V.; Chu, Z.; Chudnovskaya, D.; Cornew, L.; Dale, C.; Dell, J.; Dempsey, A.G.; Deschamps, T.; Earl, R.; Edgar, J.; Elgin, J.; Olson, J.E.; Evans, Y.L.; Findlay, A.; Fischbach, G.D.; Fisk, C.; Fregeau, B.; Gaetz, B.; Gaetz, L.; Garza, S.; Gerdts, J.; Glenn, O.; Gobuty, S.E.; Golembski, R.; Greenup, M.; Heiken, K.; Hines, K.; Hinkley, L.; Jackson, F.I.; Jenkins, J.; Jeremy, R.J.; Johnson, K.; Kanne, S.M.; Kessler, S.; Khan, S.Y.; Ku, M.; Kuschner, E.; Laakman, A.L.; Lam, P.; Lasala, M.W.; Lee, H.; LaGuerre, K.; Levy, S.; Cavanagh, A.L.; Llorens, A.V.; Campe, K.L.; Luks, T.L.; Marco, E.J.; Martin, S.; Martin, A.J.; Marzano, G.; Masson, C.; McGovern, K.E.; Keehn, R.M.N.; Miller, D.T.; Miller, F.K.; Moss, T.J.; Murray, R.; Nagarajan, S.S.; Nowell, K.P.; Owen, J.; Paal, A.M.; Packer, A.; Page, P.Z.; Paul, B.M.; Peters, A.; Peterson, D.; Poduri, A.; Pojman, N.J.; Porche, K.; Proud, M.B.; Qasmieh, S.; Ramocki, M.B.; Reilly, B.; Roberts, T.P.L.; Shaw, D.; Sinha, T.; Smith-Packard, B.; Gallagher, A.S.; Swarnakar, V.; Thieu, T.; Triantafallou, C.; Vaughan, R.; Wakahiro, M.; Wallace, A.; Ward, T.; Wenegrat, J.; Wolken, A.; Melie-Garcia, L.; Kushan, L.; Silva, A.I.; van den Bree, M.B.M.; Linden, D.E.J.; Owen, M.J.; Hall, J.; Lippé, S.; Chakravarty, M.; Bzdok, D.; Montreal Neurological Institute, McGill University; Bearden, C.E.; Draganski, B.; Jacquemont, S.; 16p11.2 European Consortium; Simons Searchlight Consortium
Transl Psychiatry
Translational Psychiatry, Vol 11, Iss 1, Pp 1-10 (2021)
16p11.2 European Consortium & Simons Searchlight Consortium 2021, 'Effects of eight neuropsychiatric copy number variants on human brain structure', Translational Psychiatry, vol. 11, no. 1, 399. https://doi.org/10.1038/s41398-021-01490-9
Translational Psychiatry
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Translational Psychiatry, vol 11, iss 1
Translational Psychiatry, Vol 11, Iss 1, Pp 1-10 (2021)
16p11.2 European Consortium & Simons Searchlight Consortium 2021, 'Effects of eight neuropsychiatric copy number variants on human brain structure', Translational Psychiatry, vol. 11, no. 1, 399. https://doi.org/10.1038/s41398-021-01490-9
Translational Psychiatry
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Modenato, C, Kumar, K, Moreau, C, Martin-Brevet, S, Huguet, G, Schramm, C, Jean-Louis,
Translational Psychiatry, vol 11, iss 1
Academic Journal
International Journal of Surgery Case Reports. Jan 01, 2017 41(C):76-79
Academic Journal
Nizon, M.; Henry, M.; Michot, C.; Baumann, C.; Bazin, A.; Bessières, B.; Blesson, S.; Cordier-Alex, M.-P.; David, A.; Delahaye-Duriez, A.; Delezoïde, A.-L.; Dieux-Coeslier, A.; Doco-Fenzy, M.; Faivre, L.; Goldenberg, A.; Layet, V.; Loget, P.; Marlin, S.; Martinovic, J.; Odent, S.; Pasquier, L.; Plessis, G.; Prieur, F.; Putoux, A.; Rio, M.; Testard, H.; Bonnefont, J.-P.; Cormier-Daire, V.
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