학술논문
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'학술논문'
에서 검색결과 359건 | 목록
1~20
Academic Journal
Vicente A. Yépez; German Demidov; Kornelia Ellwanger; Steven Laurie; Rebeka Luknárová; Midhuna Immaculate Joseph Maran; Thomas Hentrich; Lydia Sagath; Bart van der Sanden; Galuh Astuti; Kornelia Neveling; Laura Batlle-Masó; Danique Beijer; Felix Brechtmann; Andrés Caballero-Oteyza; Marc Dabad; Anne-Sophie Denommé-Pichon; Cenna Doornbos; Zakaria Eddafir; Berta Estévez-Arias; Ozge Aksel Kilicarslan; Ingrid H. M. Kolen; Leon Kraß; Katja Lohmann; Shubhankar Londhe; Estrella López-Martín; Kars Maassen; William Macken; Beatriz Martínez-Delgado; Davide Mei; Christian Mertes; Raffaella Minardi; Heba Morsy; Juliane S. Mueller; Daniel Natera-de Benito; Isabelle Nelson; Machteld M. Oud; Ida Paramonov; Daniel Picó; Davide Piscia; Kiran Polavarapu; Emanuele Raineri; Marco Savarese; Noor Smal; Marloes Steehouwer; Wouter Steyaert; Morris A. Swertz; Mirja Thomsen; Ana Töpf; Liedewei Van de Vondel; Gerben van der Vries; Antonio Vitobello; Carlo Wilke; Birte Zurek; Peter-Bram t’ Hoen; Leslie Matalonga; Lisenka E. L. M. Vissers; Christian Gilissen; Julia Schulze-Hentrich; Sergi Beltran; Anna Esteve-Codina; Alexander Hoischen; Julien Gagneur; Holm Graessner
Nature Genetics. 57:2361-2370
Academic Journal
Malbos, Marlène; Gautier, Thierry; Shillington, Amelle; Colin, Estelle; Le Guillou, Xavier; Caluseriu, Oana; Isidor, Bertrand; Cogné, Benjamin; Mignot, Cyril; Keren, Boris; Weber, Sacha; Jacquin, Clémence; Dudding, Tracy; Calame, Daniel; Piard, Juliette; Levy, Jonathan; Latypova, Xenia; Verloes, Alain; Niclass, Tanguy; Jacquette, Aurélia; White, Lori; Moizard, Marie-Pierre; Dollfus, Hélène; Moutton, Sébastien; Delanne, Julian; Racine, Caroline; Thomas, Quentin; Denommé-Pichon, Anne-Sophie; Tran Mau-Them, Frédéric; Bruel, Ange-Line; Safraou, Hana; Philippe, Christophe; Duffourd, Yannis; Thauvin-Robinet, Christel; Govin, Jérôme; Vitobello, Antonio; Faivre, Laurence
European Journal of Human Genetics. 33(12):1585-1595
Academic Journal
Houdayer, Clara; Rooney, Kathleen; van der Laan, Liselot; Bris, Céline; Alders, Mariëlle; Bahr, Angela; Barcia, Giulia; Battault, Clarisse; Begemann, Anais; Bonneau, Dominique; Bonnevalle, Antoine; Boughalem, Aicha; Bourges, Alice; Bournez, Marie; Bruel, Ange-Line; Buhas, Daniela; Carallis, Floriane; Cogné, Benjamin; Cormier-Daire, Valérie; Delanne, Julian; Demaret, Tanguy; Denommé-Pichon, Anne-Sophie; Désir, Julie; Dubourg, Christèle; Fradin, Mélanie; Geneviève, David; Goel, Himanshu; Goldenberg, Alice; Gripp, Karen W.; Guichet, Agnès; Guimier, Anne; Jacquinet, Adeline; Keren, Boris; Legoff, Louis; Levy, Michael A.; McConkey, Haley; Mendelsohn, Bryce A.; Mignot, Cyril; Milon, Vincent; Nizon, Mathilde; Oneda, Beatrice; Pasquier, Laurent; Patat, Olivier; Philippe, Christophe; Procaccio, Vincent; Procopio, Rebecca; Prouteau, Clément; Rambaud, Thomas; Rauch, Anita; Relator, Raissa; Rondeau, Sophie; Santen, Gijs W E.; Schleit, Jennifer; Sorlin, Arthur; Steindl, Katharina; Tedder, Matt; Tessarech, Marine; Mau-Them, Frédéric Tran; Trost, Detlef; Van der Sluijs, Pleuntje J; Vincent, Marie; Whalen, Sandra; Thauvin-Robinet, Christel; Isidor, Bertrand; Sadikovic, Bekim; Vitobello, Antonio; Colin, Estelle
European Journal of Human Genetics. 33(11):1422-1431
Academic Journal
Uguen, Kevin; Bergot, Tiffany; Scott-Boyer, Marie Pier; Chapalain, Solène; Desdouets, Camille; Commet, Séverine; Zhu, Changlian, 1964; Xu, Yiran; Wang, Yangong; Roscioli, Tony; Tran-Mau-Them, Frederic; Faivre, Laurence; Maraval, Julien; Delanne, Julian; Denommé-Pichon, Anne Sophie; Vitobello, Antonio; Jost, Céline; Planes, Marc; Hiatt, Susan; Wheeler, Patricia; Gonzaga-Jauregui, Claudia; Wang, Heng; Xin, Baozhong; Sency, Valerie; Kruer, Michael C.; Bakhtiari, Somayeh; Sulem, Patrick; Curry, Cynthia; Prescott, Trine; Strobl-Wildemann, Gertrud; Brunet, Theresa; Doco Fenzy, Martine; Courtin, Thomas; Poirsier, Céline; Bjørg Hammer, Trine; Fenger, Christina D.; MacPherson, Melissa; Izumi, Kosuke; Leonard, Jacqueline; Li, Dong; Zackai, Elaine H.; Glass, Ian A.; Ward, Scott; Campeau, Philippe M.; Borroto, Maria Carla Hermida; Le Moigno, Laurence; Van Esch, Hilde; De Waele, Liesbeth; Calame, Daniel G.; Lupski, James R.; Barcia, Giulia; Peduto, Cristina; Planté-Bordeneuve, Pauline; Dupuis, Lucie; Mendoza-Londono, Roberto; Stavropoulos, Dimitri J.; Gillibert-Duplantier, Jennifer; Besnard, Thomas; Do Souto Ferreira, Laura; Cogné, Benjamin; Bézieau, Stéphane; Droit, Arnaud; Corcos, Laurent; Lippert, Eric; Férec, Claude; Küry, Sebastien; Bernard, Delphine G.
Nature Communications. 17(1)
Academic Journal
Engel, Camille; Rendek, Michaela; Assoumani, Jessica; Argilli, Emanuela; Ariani, Francesca; Avice-Denizet, Anne-Laude; Bijlsmaa, Emilia; Blanc, Pierre; Bruno, Lucia Pia; Callewaert, Bert; Capra, Valeria; Carullo, Michele; Chesneau, Bertrand; Coppens, Sandra; Curry, Cynthia; Dale, Breanne; Dahlen, Eric; Delahaye-Duriez, Andrée; Denommé-Pichon, Anne-Sophie; Demeer, Bénédicte; Dvořáková, Lenka; Fischer, Jan; Geneviève, David; Giacomini, Thea; Handrup, Mette; Heron, Delphine; Hüning, Irina; Iacomino, Michelle; Isidor, Bertrand; Keren, Boris; Kmoch, Stanislav; Koolen, David; Kübler, Andrea; Laštůvková, Jana; Le, Carolyn; Levy, Jonathan; Rizzo, Caterina Lo; Maitz, Silvia; Marlin, Sandrine; Mignot, Cyril; Mirzaa, Ghayda; Nagel, Inga; Neuens, Sebastian; Nosková, Lenka; Pao, Emily; Pecková, Anna; Plaisancie, Julie; Porrmann, Joseph; Privitera, Flavia; Reis, André; Renieri, Alessandra; Rio, Marlène; Rippert, Alyssa; Ryba, Lukáš; Scala, Marcello; Schieving, Jolanda; Sherr, Elliott; Shuen, Andrew; Sidlow, Richard; Smol, Thomas; Soblet, Julie; Striano, Pasquale; Suri, Mohnish; Syryn, Hannes; Tran Mau-Them, Frédéric; Travessa, Andre; van Gils, Julien; Vasileiou, Georgia; Verseput, Jolijn; Vilain, Catheline; Vincent-Delorme, Catherine; Vyhnálková, Emílie; Wakeling, Emma; Zacher, Pia; Zara, Federico; Kuentz, Paul; Piard, Juliette
Eur J Hum Genet
European Journal of Human Genetics, 33, 8, pp. 989-996
European Journal of Human Genetics, 33, 8, pp. 989-996
Academic Journal
Thauvin-Robinet, Christel; Garde, Aurore; Favier, Maud; Delanne, Julian; Racine, Caroline; Rousseau, Thierry; Nambot, Sophie; Bruel, Ange-Line; Moutton, Sébastien; Quélin, Chloé; Colson, Cindy; Brehin, Anne Claire; Guerrot, Anne Marie; Rooryck, Caroline; Putoux, Audrey; Blanchet, Patricia; Odent, Sylvie; Schaefer, Elise; Boute, Odile; Goldenberg, Alice; Guichet, Agnés; Abel, Carine; Morel, Godeliève; Fradin, Mélanie; Isidor, Bertrand; Vincent, Marie; Francannet, Christine; Vera, Gabriella; Petit, Florence; Nizon, Mathilde; Wells, Constance; Jeanne, Médéric; Deiller, Caroline; Ziegler, Alban; Godin, Manon; Saugier-Veber, Pascale; Cassinari, Kévin; Blanc, Pierre; Martinaud, Aurélie; Binquet, C; Duffourd, Yannis; Safraou, Hana; Denommé‐pichon, Anne‐sophie; Vitobello, Antonio; Philippe, Christophe; Faivre, Laurence; Tran Mau-Them, Frédéric; Bourgon, Nicolas
European Journal of Human Genetics. 33:675-682
Exome sequencing in severe non-syndromic specific learning and language disorders in a French cohort
Academic Journal
Eléonore Viora-Dupont; Julian Delanne; Aurore Garde; Sophie Nambot; Estelle Colin; Marie Bournez; Clémence Fauconnier-Fatus; Caroline Racine; Clément Simao De Souza; Céline Bernard; Agnès Maurer; Aurélie Espitalier; Christine Binquet; Marion Bouctot; Marie-Laure Humbert; Anne-Sophie Briffaut; Véronique Darmency; Patricia Plumet; Audrey Cotinaud-Ricou; Noémie Relin; Patrick Callier; Anne-Laure Mosca-Boidron; Nathalie Marle; Frederic Tran Mau-Them; Anne-Sophie Denommé-Pichon; Hana Safraou; Antonio Vitobello; Christophe Philippe; Yannis Duffourd; Ange-Line Bruel; Christel Thauvin-Robinet; Laurence Faivre
Molecular Autism, Vol 16, Iss 1, Pp 1-17 (2025)
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
EIPR1 variants cause a neurodevelopmental disorder with endolysosomal and dense core vesicle defects
Academic Journal
Saikat Ghosh; Jaskaran Singh; Nadirah S Damseh; Mariasavina Severino; Raffaella De Pace; Adriana E Golding; Michal Jarnik; Poonam Thakran; Laurence Faivre; Jade Heitz; Anne-Sophie Denommé-Pichon; Antonio Vitobello; Lama AlAbdi; Firdous Abdulwahab; Safia Sumayli; Mashael Alqahtani; Huma Arshad Cheema; Iram Javed; JiHye Kim; Hanns Lochmuller; Hagar Mor-Shaked; Jennifer E Neil; Ganeshwaran H Mochida; Giovanni Zifarelli; Peter Bauer; Ehsan Barkhordari; Ehsan Ghayoor Karimiani; Henry Houlden; Bassam Abu-Libdeh; Shimon Edvardson; Orly Elpeleg; Reza Maroofian; Shunmoogum A Patten; Juan S Bonifacino
Brain.
Academic Journal
Yépez, Vicente A.; Demidov, German; Ellwanger, Kornelia; Laurie, Steven; Luknárová, Rebeka; Joseph Maran, Midhuna Immaculate; Hentrich, Thomas; Sagath, Lydia; van der Sanden, Bart; Astuti, Galuh; Neveling, Kornelia; Batlle-Masó, Laura; Beijer, Danique; Brechtmann, Felix; Caballero-Oteyza, Andrés; Dabad, Marc; Denommé-Pichon, Anne-Sophie; Doornbos, Cenna; Eddafir, Zakaria; Estévez-Arias, Berta; Kilicarslan, Ozge Aksel; Kolen, Ingrid H. M.; Kraß, Leon; Lohmann, Katja; Londhe, Shubhankar; López-Martín, Estrella; Maassen, Kars; Macken, William; Martínez-Delgado, Beatriz; Mei, Davide; Mertes, Christian; Minardi, Raffaella; Morsy, Heba; Mueller, Juliane S.; Natera-de Benito, Daniel; Nelson, Isabelle; Oud, Machteld M.; Paramonov, Ida; Picó, Daniel; Piscia, Davide; Polavarapu, Kiran; Raineri, Emanuele; Savarese, Marco; Smal, Noor; Steehouwer, Marloes; Steyaert, Wouter; Swertz, Morris A.; Thomsen, Mirja; Töpf, Ana; Van de Vondel, Liedewei; van der Vries, Gerben; Vitobello, Antonio; Wilke, Carlo; Zurek, Birte; t’ Hoen, Peter-Bram; Matalonga, Leslie; Vissers, Lisenka E. L. M.; Gilissen, Christian; Schulze-Hentrich, Julia; Beltran, Sergi; Esteve-Codina, Anna; Hoischen, Alexander; Gagneur, Julien; Graessner, Holm
Nature Genetics. 58(1):231-231
Academic Journal
Steven Laurie; Wouter Steyaert; Elke de Boer; Kiran Polavarapu; Nika Schuermans; Anna K. Sommer; German Demidov; Kornelia Ellwanger; Ida Paramonov; Coline Thomas; Stefan Aretz; Jonathan Baets; Elisa Benetti; Gemma Bullich; Patrick F. Chinnery; Jill Clayton-Smith; Enzo Cohen; Daniel Danis; Jean-Madeleine de Sainte Agathe; Anne-Sophie Denommé-Pichon; Jordi Diaz-Manera; Stephanie Efthymiou; Laurence Faivre; Marcos Fernandez-Callejo; Mallory Freeberg; José Garcia-Pelaez; Lena Guillot-Noel; Tobias B. Haack; Mike Hanna; Holger Hengel; Rita Horvath; Henry Houlden; Adam Jackson; Lennart Johansson; Mridul Johari; Erik-Jan Kamsteeg; Melanie Kellner; Tjitske Kleefstra; Didier Lacombe; Hanns Lochmüller; Estrella López-Martín; Alfons Macaya; Anna Marcé-Grau; Aleš Maver; Heba Morsy; Francesco Muntoni; Francesco Musacchia; Isabelle Nelson; Vincenzo Nigro; Catarina Olimpio; Carla Oliveira; Jaroslava Paulasová Schwabová; Martje G. Pauly; Borut Peterlin; Sophia Peters; Rolph Pfundt; Giulio Piluso; Davide Piscia; Manuel Posada; Selina Reich; Alessandra Renieri; Lukas Ryba; Karolis Šablauskas; Marco Savarese; Ludger Schöls; Leon Schütz; Verena Steinke-Lange; Giovanni Stevanin; Volker Straub; Marc Sturm; Morris A. Swertz; Marco Tartaglia; Iris B. A. W. te Paske; Rachel Thompson; Annalaura Torella; Christina Trainor; Bjarne Udd; Liedewei Van de Vondel; Bart van de Warrenburg; Jeroen van Reeuwijk; Jana Vandrovcova; Antonio Vitobello; Janet Vos; Emílie Vyhnálková; Robin Wijngaard; Carlo Wilke; Doreen William; Jishu Xu; Burcu Yaldiz; Luca Zalatnai; Birte Zurek; Richarda M. de Voer; Lisenka E. L. M. Vissers; Anthony J. Brookes; Teresinha Evangelista; Christian Gilissen; Holm Graessner; Nicoline Hoogerbrugge; Stephan Ossowski; Olaf Riess; Rebecca Schüle; Matthis Synofzik; Alain Verloes; Leslie Matalonga; Han G. Brunner; Katja Lohmann; Ana Töpf; Lisenka E.L.M. Vissers; Sergi Beltran; Alexander Hoischen
Nat Med
Nature medicine 31(2), 478-489 (2025). doi:10.1038/s41591-024-03420-w
Nature Medicine, 31, 2, pp. 478-489
Nature medicine
Nature medicine 31(2), 478-489 (2025). doi:10.1038/s41591-024-03420-w
Nature Medicine, 31, 2, pp. 478-489
Nature medicine
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
Maria Eugenia Amato; Sol Balsells; Loreto Martorell; Adrián Alcalá San Martín; Karen Ansell; Malene Landbo Børresen; Heather Johnson; Christian Korff; Stephanie Garcia-Tarodo; Jeremie Lefranc; Anne-Sophie Denommé-Pichon; Elisabeth Sarrazin; Nora Zsuzsanna Szabo; Jorge M. Saraiva; Dorota Wicher; Anne Goverde; Karen G.C.B. Bindels-de Heus; Tahsin Stefan Barakat; Juan Darío Ortigoza-Escobar
European Journal of Paediatric Neurology. 53:63-72
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
Zagorec, Nikola; Calamel, Alizée; Delaporte, Margaux; Olinger, Eric; Orr, Sarah; Sayer, John A.; Pillay, Vignesh-Guru; Denommé-Pichon, Anne-Sophie; Tran Mau-Them, Frederic; Nambot, Sophie; Faivre, Laurence; Ars, Elisabet; Torra, Roser; Ong, Albert C.M.; Devuyst, Olivier; Perico, Noberto; Després, Aurore Michel; Lemoine, Hugo; de Fallois, Jonathan; Brousse, Romain; Hummel, Aurélie; Knebelmann, Bertrand; Maisonneuve, Nathalie; Halbritter, Jan; Le Meur, Yannick; Audrézet, Marie-Pierre; Cornec-Le Gall, Emilie; Winterbottom, Jean; Simms, Roslyn J.; Caroli, Anna; Demoulin, Nathalie; Furlano, Monica; Pybus, Marc; Gansevoort, Ron; Meijer, Esther; Grall, A.; Moal, M.C.; Tanquerel, T.; Hanrotel, C.; Segalen, I.; Lanfranco, L.; C, Mesguen; A, Kersale; A, Capdeville; V, Huynh; Hourmant, M.; Dantal, J.; Giral, M.; Meurette, A.; Lino, M.; Garandeau, C.; Hodemon-Corne, B.; Allain-Launay, E.; Cantarovich, D.; Blancho, G.; Hristea, D.; Couvrat, G.; Fakhouri, F.; Lavainne, F.; Vercel, C.; Chapal, M.; Le Fur, A.; Gourraud, C.; Deltombe, C.; Vigneau, C.; Morin, M.P.; Le Pogamp, P.; Frouget, T.; Gie, S.; Rivalan, J.; Laruelle, E.; Richer, C.; Lorcy, N.; Golbin, L.; Terrasse, M.; Morice, S.; Brenier, H.; Michel, A.; Tomkiewicz, E.; Nguyen, Q.L.; Vabret, E.; Lavergne, A.; Pierre, E.; Chemouny, J.; Halimi, J.M.; Longuet, H.; Gatault, P.; Merieau, E.; Barbet, C.; Buchler, M.; Golea, G.; Ghouti, L.; Gautard, D.; Sautenet, B.; François, M.; Fournier, A.; Baron, C.; Salmon, C.; Rabot, N.; Prat, L.; Valentin, J.F.; Chevallier, E.; Birmele, B.; Genest, C.; Goin, N.; Goumard, A.; Bridoux, F.; Desport, E.; Thierry, A.; Ecotiere, L.; Touchard, G.; Belmouaz, M.; Javaugue, V.; Bauwens, M.; Fride-Leroy, F.; Goussard, G.; Bouteau, I.; Jacquemont, L.; Subra, J.F.; Augusto, J.F.; Duveau, A.; Besson, V.; Cousin, M.; Sayegh, J.; Onno, C.; Maghakian, M.N.; Demiselle, J.; Deschamps, C.; Garnier, A.S.; Guibert, F.; Planchais, M.; Charasse, C.; Stanescu, C.; Le Cacheux, P.; Baluta, S.; Leonetti, F.; Boulahrouz, R.; Ferrier, M.L.; Freguin, C.; Simon, A.; Potier, J.; Coulibaly, J.M.; Colombo, A.; Delezire, A.; Renaudineau, E.; Dolley-Hitze, T.; Perrichot, R.; Michez, E.; Mandart, L.; Menoyo, V.; Pincon, E.; Muresan, C.; Durand, P.Y.; Corlu, L.; Wegner, I.; Siohan, P.; Metes, I.; Guyon-Roger, T.; Wehbe, B.; Gueguen, L.; Drouet, C.; Loheac, C.; Sawadogo, T.; Le Guillou, A.; Le Jeune, M.; Beillard, G.; Lefevre, S.; Chamontin, C.; Georgescu, S.; Jousset, P.; Latif, R.; Massad, M.; Jaulin, J.P.; Querard, A.H.; Ottavioli, J.N.; Target, N.; Chapal, A.; Charpy, V.; Besnier, D.; Regnier-Le Coz, S.; Blanpain, A.; Durault, S.; Larmet, D.; Le Clech, A.; Pouteau, L.M.; Labatut, D.; Coindre, J.P.; Sigogne, M.; Piccoli, G.; Bachelet-Rousseau, C.; Delbes, S.; Fritz, O.; Pourreau, F.; Mzoughi, S.; Guillodo, M.P.; Gosselin, M.; Depraetre, P.; Strullu, B.; Chaffara, E.; Le Mee, M.; Terki, N.; Goulesque, K.; Benarbia, S.; Dimulescu, M.; Rifaat, M.; Duneau, G.; Legrand, D.; Georges, E.; Seret, G.; Babinet, F.; Lanoiselee, S.; Savoiu, C.; Testa, A.; Oancea, I.; Coupel, I.; Parahy, S.; Lefrancois, G.; Briand, E.; Bugnon, D.; Ambrose, John C.; Arumugam, Prabhu; Bevers, Roel; Bleda, Marta; Boustred, Christopher R.; Brittain, Helen; Chan, Georgia C.; Fowler, Tom; Giess, Adam; Hamblin, Angela; Hubbard, Tim J.P.; Jackson, Rob; Kayikci, Melis; Kousathanas, Athanasios; Lahnstein, Lea; Leigh, Sarah E.A.; Leong, Ivonne U.S.; Lopez, Javier F.; Maleady-Crowe, Fiona; McEntagart, Meriel; Minneci, Federico; Murugaesu, Nirupa; O’Donovan, Peter; Odhams, Chris A.; Pereira, Mariana Buongermino; Perez-Gil, Daniel; Pullinger, John; Rahim, Tahrima; Rendon, Augusto; Rogers, Tim; Savage, Kevin; Sawant, Kushmita; Scott, Richard H.; Siddiq, Afshan; Sieghart, Alexander; Smith, Samuel C.; Stuckey, Alexander; Tanguy, Mélanie; Taylor Tavares, Ana Lisa; Thompson, Simon R.; Welland, Matthew J.; Williams, Eleanor; Boardman-Pretty, Freya; Moutsianas, Loukas; Mueller, Michael; Caulfield, Mark J.; Elgar, Greg; Henderson, Shirley; Jones, Louise J.; Kasperaviciute, Dalia; Need, Anna C.; Patch, Christine; Sosinsky, Alona; Thomas, Ellen R.A.; Tucci, Arianna; Witkowska, Katarzyna; Wood, Suzanne M.
American Journal of Kidney Diseases. 85(4):465-476
Academic Journal
Thauvin-Robinet, Christel; Garde, Aurore; Delanne, Julian; Racine, Caroline; Rousseau, Thierry; Simon, Emmanuel; François, Michel; Moutton, Sebastien; Sylvie, Odent; Quelin, Chloe; Morel, Godelieve; Goldenberg, Alice; Guerrot, Anne‐marie; Vera, Gabriella; Gruchy, Nicolas; Colson, Cindy; Boute, Odile; Abel, Carine; Putoux, Audrey; Amiel, Jeanne; Guichet, Agnes; Isidor, Bertrand; Deiller, Caroline; Wells, Constance; Rooryck, Caroline; Legendre, Marine; Francannet, Christine; Dard, Rodolphe; Sigaudy, Sabine; Bruel, Ange‐line; Safraou, Hana; Denommé-Pichon, Anne‐sophie; Nambot, Sophie; Asensio, Marie‐laure Humbert; Binquet, Christine; Duffourd, Yannis; Vitobello, Antonio; Philippe, Christophe; Faivre, Laurence; Tran-Mau-Them, Frédéric; Bourgon, Nicolas
Prenatal Diagnosis. 44:1179-1197
Academic Journal
Emmylou C. Nicolas-Martinez; Olivia Robinson; Christian Pflueger; Alison Gardner; Mark A. Corbett; Tarin Ritchie; Thessa Kroes; Clare L. van Eyk; Ingrid E. Scheffer; Michael S. Hildebrand; Jean-Vianney Barnier; Véronique Rousseau; David Genevieve; Virginie Haushalter; Amélie Piton; Anne-Sophie Denommé-Pichon; Ange-Line Bruel; Sophie Nambot; Bertrand Isidor; John Grigg; Tina Gonzalez; Sondhya Ghedia; Rhett G. Marchant; Adam Bournazos; Wui-Kwan Wong; Richard I. Webster; Frances J. Evesson; Kristi J. Jones; Dimitar N. Azmanov; Christopher P. Barnett; Simon C. Barry; Gareth Baynam; Samuel F. Berkovic; John Christodoulou; David J. Coman; Sandra Cooper; Martin Delatycki; Tracy E. Dudding; Sue Fletcher; Alison E. Gardner; Jozef Gecz; Megan J. Higgins; Lachlan A. Jolly; Ryan Lister; Julie McGaughran; Cathryn Poulton; Tony Roscioli; Ingrid Scheffer Hamish S. Scott; Andrew H. Sinclair; Amanda B. Spurdle; Tiong Y. Tan; Irina Voineagu; Sandra T. Cooper
Am J Hum Genet
Academic Journal
Yuji Nakamura; Issei S Shimada; Reza Maroofian; Micol Falabella; Maha S Zaki; Masanori Fujimoto; Emi Sato; Hiroshi Takase; Shiho Aoki; Akihiko Miyauchi; Eriko Koshimizu; Satoko Miyatake; Yuko Arioka; Mizuki Honda; Takayoshi Higashi; Fuyuki Miya; Yukimune Okubo; Isamu Ogawa; Annarita Scardamaglia; Mohammad Miryounesi; Sahar Alijanpour; Farzad Ahmadabadi; Peter Herkenrath; Hormos Salimi Dafsari; Clara Velmans; Mohammed Al Balwi; Antonio Vitobello; Anne-Sophie Denommé-Pichon; Médéric Jeanne; Antoine Civit; Mohamed S Abdel-Hamid; Hamed Naderi; Hossein Darvish; Somayeh Bakhtiari; Michael C Kruer; Christopher J Carroll; Ehsan Ghayoor Karimiani; Rozhgar A Khailany; Talib Adil Abdulqadir; Mehmet Ozaslan; Peter Bauer; Giovanni Zifarelli; Tahere Seifi; Mina Zamani; Chadi Al Alam; Javeria Raza Alvi; Tipu Sultan; Stephanie Efthymiou; Simon A S Pope; Kazuhiro Haginoya; Tamihide Matsunaga; Hitoshi Osaka; Naomichi Matsumoto; Norio Ozaki; Yasuyuki Ohkawa; Shinya Oki; Tatsuhiko Tsunoda; Robert D S Pitceathly; Yoshitaka Taketomi; Henry Houlden; Makoto Murakami; Yoichi Kato; Shinji Saitoh
Brain
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
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