학술논문
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'학술논문'
에서 검색결과 547건 | 목록
1~20
Academic Journal
Jost, Céline; Busa, Tiffany; Wegner, Daniel; Shinawi, Marwan; Schaefer, Elise; Piton, Amélie; Schluth-Bolard, Caroline; Charles, Perrine; Keren, Boris; Mayerhanser, Katharina; Brunet, Theresa; Schatz, Ulrich; Neil, Jennifer E.; Walsh, Christopher A.; Sisco, Kathleen; J. Paul, Alexander; Lee, Chung; Dykzeul, Natalie; Bonner, Devon; Bernstein, Jonathan A.; Sutcliffe, Erin; Wentzensen, Ingrid M.; Froehlich, Catherine; Liebler, Kaleigh; Galvin Parton, Patricia; Weiss-Burns, Jody; Sagnol, Chloé; Delanne, Julian; Racine, Caroline; Thauvin-Robinet, Christel; Safraou, Hana; Tran Mau-Them, Frédéric; Duffourd, Yannis; Bruel, Ange-Line; Faivre, Laurence
European Journal of Human Genetics. :1-11
Academic Journal
Efthymiou, Stephanie; Leo, Cailyn P.; Deng, Chenghong; Lin, Sheng-Jia; Maroofian, Reza; Lin, Renee; Karagoz, Irem; Zhang, Kejia; Kaiyrzhanov, Rauan; Scardamaglia, Annarita; Owrang, Daniel; Turchetti, Valentina; Jahnke, Friederike; Huang, Kevin; Petree, Cassidy; V. Derrick, Anna; Rees, Mark I.; Alvi, Javeria Raza; Sultan, Tipu; Li, Chumei; Jacquemont, Marie-Line; Tran-Mau-Them, Frederic; Valenzuela-Palafoll, Maria; Sidlow, Rich; Yoon, Grace; Morrow, Michelle M.; Carere, Deanna Alexis; O'Connor, Mary; Fleischer, Julie; Gerkes, Erica H.; Phornphutkul, Chanika; Isidor, Bertrand; Rivier-Ringenbach, Clotilde; Philippe, Christophe; Kurul, Semra Hiz; Soydemir, Didem; Kara, Bulent; Sunnetci-Akkoyunlu, Deniz; Bothe, Viktoria; Platzer, Konrad; Wieczorek, Dagmar; Koch-Hogrebe, Margarete; Rahner, Nils; Thuresson, Ann-Charlotte; Matsson, Hans, PhD, 1973; Frykholm, Carina; Bozdogan, Sevcan Tug; Bisgin, Atil; Chatron, Nicolas; Lesca, Gaetan; Cabet, Sara; Tumer, Zeynep; Hjortshoj, Tina D.; Ronde, Gitte; Marquardt, Thorsten; Reunert, Janine; Afzal, Erum; Zamani, Mina; Azizimalamiri, Reza; Galehdari, Hamid; Nourbakhsh, Pardis; Chamanrou, Niloofar; Chung, Seo-Kyung; Suri, Mohnish; Benke, Paul J.; Zaki, Maha S.; Gleeson, Joseph G.; Calame, Daniel G.; Pehlivan, Davut; Yilmaz, Halil I.; Gezdirici, Alper; Rad, Aboulfazl; Abumansour, Iman Sabri; Oprea, Gabriela; Bereketoglu, Muhammed Burak; Banneau, Guillaume; Julia, Sophie; Zeighami, Jawaher; Ashoori, Saeed; Shariati, Gholamreza; Sedaghat, Alireza; Sabri, Alihossein; Hamid, Mohammad; Parvas, Sahere; Tajudin, Tajul Arifin; Abdullah, Uzma; Baig, Shahid Mahmood; Chung, Wendy K.; Glazunova, Olga O.; Sabine, Sigaudy; Cheema, Huma Arshad; Zifarelli, Giovanni; Bauer, Peter; Sidpra, Jai; Mankad, Kshitij; Vona, Barbara; Fry, Andrew E.; Varshney, Gaurav K.; Houlden, Henry; Fu, Dragony
American Journal of Human Genetics. 112(5)
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
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
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
Borel, Flavie; Thauvin, Christel; Schiff, Manuel; Duffourd, Yannis; Tran Mau Them, Frederic; Philippe, Christophe; Mochel, Fanny; Thomas, Quentin
Neurological Sciences. 47(1)
Academic Journal
Iturrate, Asier; Tran-Mau Them, Frédéric; Verloes, Alain; Pouzet, Antoine; de Silva, Deepthi; Perrin-Sabourin, Laurence; Wentzensen, Ingrid M.; Jones, Kennedi; Upadia, Jariya; Abdalla, Ebtesam; Thauvin-Robinet, Christel; Ruiz-Perez, Victor L.; Bruel, Ange-Line
Human Genomics. 19(1)
Exome sequencing in severe non-syndromic specific learning and language disorders in a French cohort
Academic Journal
Viora-Dupont, Eléonore; Delanne, Julian; Garde, Aurore; Nambot, Sophie; Colin, Estelle; Bournez, Marie; Fauconnier-Fatus, Clémence; Racine, Caroline; Simao De Souza, Clément; Bernard, Céline; Maurer, Agnès; Espitalier, Aurélie; Binquet, Christine; Bouctot, Marion; Humbert, Marie-Laure; Briffaut, Anne-Sophie; Darmency, Véronique; Plumet, Patricia; Cotinaud-Ricou, Audrey; Relin, Noémie; Callier, Patrick; Mosca-Boidron, Anne-Laure; Marle, Nathalie; Tran Mau-Them, Frederic; Denommé-Pichon, Anne-Sophie; Safraou, Hana; Vitobello, Antonio; Philippe, Christophe; Duffourd, Yannis; Bruel, Ange-Line; Thauvin-Robinet, Christel; Faivre, Laurence
Molecular Autism. 16(1)
Academic Journal
El Chehadeh, Salima; Heide, Solveig; Quélin, Chloé; Rio, Marlène; Margot, Henri; Geneviève, David; Isidor, Bertrand; Goldenberg, Alice; Guégan, Caroline; Lesca, Gaëtan; Willems, Marjolaine; Ormières, Clothilde; Caumes, Roseline; Busa, Tiffany; Bonneau, Dominique; Guerrot, Anne-Marie; Marey, Isabelle; Vera, Gabriella; Marzin, Pauline; Philippe, Anaïs; Garde, Aurore; Coubes, Christine; Vincent, Marie; Michaud, Vincent; Mignot, Cyril; Charles, Perrine; Sigaudy, Sabine; Edery, Patrick; Lacombe, Didier; Boland, Anne; Nowak, Frédérique; Bouctot, Marion; Humbert-Asensio, Marie-Laure; Simon, Alban; Chennen, Kirsley; Sabour, Niki; Delmas, Christelle; Nicolas, Gaël; Saugier-Veber, Pascale; Lecoquierre, François; Cassinari, Kévin; Keren, Boris; Courtin, Thomas; De Sainte Agathe, Jean-Madeleine; Malan, Valérie; Barcia, Giulia; Tran Mau-Them, Frédéric; Safraou, Hana; Philippe, Christophe; Thévenon, Julien; Chatron, Nicolas; Januel, Louis; Piton, Amélie; Haushalter, Virginie; Gérard, Bénédicte; Lejeune, Catherine; Faivre, Laurence; Sanlaville, Damien; Héron, Delphine; Odent, Sylvie; Nitschké, Patrick; Schluth-Bolard, Caroline; Lyonnet, Stanislas; Deleuze, Jean-François; Binquet, Christine; Dollfus, Hélène
Genome Medicine. 17(1)
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
Academic Journal
Aymeric Masson; Julien Paccaud; Martina Orefice; Estelle Colin; Outi Mäkitie; Valérie Cormier-Daire; Raissa Relator; Sourav Ghosh; Jean-Marc Strub; Christine Schaeffer-Reiss; Carlo Marcelis; David A. Koolen; Rolph Pfundt; Elke de Boer; Lisenka E.L.M. Vissers; Thatjana Gardeitchik; Lonneke A.M. Aarts; Tuula Rinne; Paulien A. Terhal; Nienke E. Verbeek; Linda C. Zuurbier; Astrid S. Plomp; Marja W. Wessels; Stella A. de Man; Arjan Bouman; Lynne M. Bird; Reem Saadeh-Haddad; Maria J. Guillen Sacoto; Richard Person; Catherine Gooch; Anna C.E. Hurst; Michelle L. Thompson; Susan M. Hiatt; Rebecca O. Littlejohn; Elizabeth R. Roeder; Mari Mori; Scott Hickey; Jesse M. Hunter; Kristy Lee; Khaled Osman; Rana Halloun; Ruxandra Bachmann-Gagescu; Anita Rauch; Dagmar Wieczorek; Konrad Platzer; Johannes Luppe; Laurence Duplomb-Jego; Fatima El It; Yannis Duffourd; Frédéric Tran Mau-Them; Celine Huber; Christopher T. Gordon; Fulya Taylan; Riikka E. Mäkitie; Alice Costantini; Helena Valta; Stephen Robertson; Gemma Poke; Michel Francoise; Andrea Ciolfi; Marco Tartaglia; Nina Ekhilevitch; Rinat Zaid; Michael A. Levy; Jennifer Kerkhof; Haley McConkey; Julian Delanne; Martin Chevarin; Valentin Vautrot; Valentin Bourgeois; Sylvie Nguyen; Nathalie Marle; Patrick Callier; Hana Safraou; Angela Morgan; David J. Amor; Michael Hildebrand; David Coman; Marion Aubert Mucca; Julien Thevenon; Fanny Laffargue; Frédéric Bilan; Céline Pebrel-Richard; Grace Yoon; Michelle M. Axford; Luis A. Pérez-Jurado; Marta Sevilla-Porras; Douglas Black; Christophe Philippe; Bekim Sadikovic; Christel Thauvin-Robinet; Laurence Olivier-Faivre; Michela Ori; Quentin Thomas; Antonio Vitobello
Journal of Clinical Investigation.
Academic Journal
Aleš Hnízda; Beatriz Martinez-Delgado; Diana Sanchez-Ponce; Javier Alonso; Jeanne Amiel; Tania Attie-Bitach; Ariadna Bada-Navarro; Beatriz Baladron; Eva Bermejo-Sanchez; Vítězslav Brinsa; Ivana Buková; Rosario Cazorla-Calleja; Sylvie Červenková; Shanshan Chow; Petr Dušek; Marta Fernandez; Sourav Ghosh; Gema Gomez-Mariano; Andrea Gřegořová; Mark James Hamilton; Hana Hartmannová; Esther Hernandez-San Miguel; Marina Herrero-Matesanz; Kateřina Hodaňová; Alan Kádek; Jennifer Kerkhof; Tjitske Kleefstra; Didier Lacombe; Michael A. Levy; Estrella Lopez-Martin; Ruaud Lyse; Petr Man; Purificacion Marin-Reina; Ellen F. Macnamara; Haley McConkey; Petra Melenovská; Lidia M. Mielu; David Moore; Lenka Mrázová; Karolína Musilová; Petr Nickl; Martina Pavlíková; Lea Pavlovičová; Manuel Posada; Jan Procházka; Kateryna Pysanenko; Sheila Ramos del Saz; Dmitrijs Rots; Jessica Rzasa; Radislav Sedláček; Viktor Stránecký; František Špoutil; Matthew L. Tedder; Louise Thompson; Cynthia J. Tifft; Frederic Tran Mau-Them; Helena Trešlová; Antonio Vitobello; Bekim Sadikovic; Jakub Sikora; Stanislav Kmoch; Maria J. Barrero; Lenka Nosková
Academic Journal
Raphael Carapito; Anne Molitor; Lisa Pavinato; Alaa Skeyni; Magalie Lambert; Angélique Pichot; Jiuhong Jiang; Perrine Spinnhirny; Lucie Zimmermann; Philippe Boucher; Clara W. T. Chung; Noha Elserafy; Edward M. Blair; Dong Li; Bhoj Elisabeth; Urania Kotzaeridou; Stephanie Karch; Matias Wagner; Roelineke J. Lunsing; Rolph Pfundt; Kym M. Boycott; Ange-Line Bruel; Frédéric Tran Mau-Them; Sébastien Moutton; Valerio Conti; Davide Mei; Valentina Cetica; Renzo Guerrini; Theresa Brunet; Patrick Rump; Alessandro Mussa; Alfredo Brusco; Gabrielle Lemire; Bert B. A. de Vries; Zhichao Miao; Bertrand Isidor; Seiamak Bahram
European Journal of Human Genetics. 33:966-972
Academic Journal
Cindy Colson; Marine Tessarech; Elise Boucher‐Brischoux; Odile Boute‐Benejean; Catherine Vincent‐Delorme; Clémence Vanlerberghe; Simon Boussion; Justine Le Cunff; Bénédicte Duban‐Bedu; Laurence Faivre; Christel Thauvin; Christophe Philippe; Ange‐Line Bruel; Frédéric Tran Mau‐Them; Clara Houdayer; Gaetan Lesca; Audrey Putoux; Jonathan Lévy; Olivier Patat; Marlène Rio; Jamal Ghoumid; Thomas Smol
Clin Genet
Academic Journal
Cosima M. Schmid; Anne Gregor; Anna Ruiz; Carmen Manso Bazús; Isabella Herman; Farah Ammouri; Urania Kotzaeridou; Vanda McNiven; Lucie Dupuis; Katharina Steindl; Anaïs Begemann; Anita Rauch; Aude-Annick Suter; Bertrand Isidor; Sandra Mercier; Mathilde Nizon; Benjamin Cogné; Wallid Deb; Thomas Besnard; Tobias B. Haack; Ruth J. Falb; Amelie J. Müller; Tobias Linden; Chad R. Haldeman-Englert; Charlotte W. Ockeloen; Francesca Mattioli; Alexandre Reymond; Nazia Ibrahim; Shagufta Naz; Elodie Lacaze; Jennifer A. Bassetti; Julia Hoefele; Theresa Brunet; Korbinian M. Riedhammer; Houda Z. Elloumi; Richard Person; Fanggeng Zou; Juliette J. Kahle; Kirsten Cremer; Axel Schmidt; Marie-Ange Delrue; Pedro M. Almeida; Fabiana Ramos; Siddharth Srivastava; Aisling Quinlan; Stephen Robertson; Eva Manka; Alma Kuechler; Stephanie Spranger; Malgorzata J. M. Nowaczyk; Reem M. Elshafie; Hind Alsharhan; Paul R. Hillman; Leslie A. Dunnington; Hilde M. H. Braakman; Shane McKee; Angelica Moresco; Andrea-Diana Ignat; Ruth Newbury-Ecob; Guillaume Banneau; Olivier Patat; Jeffrey Kuerbitz; Susan Rzucidlo; Susan S. Sell; Patricia Gordon; Sarah Schuhmann; André Reis; Yosra Halleb; Radka Stoeva; Boris Keren; Zainab Al Masseri; Zeynep Tümer; Sophia Hammer-Hansen; Sofus Krüger Sølyst; Connolly G. Steigerwald; Nicolas J. Abreu; Helene Faust; Amica Müller-Nedebock; Frédéric Tran Mau-Them; Heinrich Sticht; Christiane Zweier
Eur J Hum Genet
European Journal of Human Genetics, 33, 5, pp. 588-594
European journal of human genetics, vol. 33, no. 5, pp. 588-594
Schmid, C M, Gregor, A, Ruiz, A, Manso Bazús, C, Herman, I, Ammouri, F, Kotzaeridou, U, McNiven, V, Dupuis, L, Steindl, K, Begemann, A, Rauch, A, Suter, A A, Isidor, B, Mercier, S, Nizon, M, Cogné, B, Deb, W, Besnard, T, Haack, T B, Falb, R J, Müller, A J, Linden, T, Haldeman-Englert, C R, Ockeloen, C W, Mattioli, F, Reymond, A, Ibrahim, N, Naz, S, Lacaze, E, Bassetti, J A, Hoefele, J, Brunet, T, Riedhammer, K M, Elloumi, H Z, Person, R, Zou, F, Kahle, J J, Cremer, K, Schmidt, A, Delrue, M A, Almeida, P M, Ramos, F, Srivastava, S, Quinlan, A, Robertson, S, Manka, E, Kuechler, A, Spranger, S, Nowaczyk, M J M, Elshafie, R M, Alsharhan, H, Hillman, P R, Dunnington, L A, Braakman, H M H, McKee, S, Moresco, A, Ignat, A D, Newbury-Ecob, R, Banneau, G, Patat, O, Kuerbitz, J, Rzucidlo, S, Sell, S S, Gordon, P, Schuhmann, S, Reis, A, Halleb, Y, Stoeva, R, Keren, B, Al Masseri, Z, Tümer, Z, Hammer-Hansen, S, Krüger Sølyst, S, Steigerwald, C G, Abreu, N J, Faust, H, Müller-Nedebock, A,Tran Mau -Them , F, Sticht, H & Zweier, C 2025, ' Further delineation of the SCAF4-associated neurodevelopmental disorder ', European Journal of Human Genetics, vol. 33, no. 5, pp. 588-594 . https://doi.org/10.1038/s41431-024-01760-2
European Journal of Human Genetics, 33, 5, pp. 588-594
European journal of human genetics, vol. 33, no. 5, pp. 588-594
Schmid, C M, Gregor, A, Ruiz, A, Manso Bazús, C, Herman, I, Ammouri, F, Kotzaeridou, U, McNiven, V, Dupuis, L, Steindl, K, Begemann, A, Rauch, A, Suter, A A, Isidor, B, Mercier, S, Nizon, M, Cogné, B, Deb, W, Besnard, T, Haack, T B, Falb, R J, Müller, A J, Linden, T, Haldeman-Englert, C R, Ockeloen, C W, Mattioli, F, Reymond, A, Ibrahim, N, Naz, S, Lacaze, E, Bassetti, J A, Hoefele, J, Brunet, T, Riedhammer, K M, Elloumi, H Z, Person, R, Zou, F, Kahle, J J, Cremer, K, Schmidt, A, Delrue, M A, Almeida, P M, Ramos, F, Srivastava, S, Quinlan, A, Robertson, S, Manka, E, Kuechler, A, Spranger, S, Nowaczyk, M J M, Elshafie, R M, Alsharhan, H, Hillman, P R, Dunnington, L A, Braakman, H M H, McKee, S, Moresco, A, Ignat, A D, Newbury-Ecob, R, Banneau, G, Patat, O, Kuerbitz, J, Rzucidlo, S, Sell, S S, Gordon, P, Schuhmann, S, Reis, A, Halleb, Y, Stoeva, R, Keren, B, Al Masseri, Z, Tümer, Z, Hammer-Hansen, S, Krüger Sølyst, S, Steigerwald, C G, Abreu, N J, Faust, H, Müller-Nedebock, A,
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
Tan, Senwei; Zhang, Qiumeng; Zhan, Rui; Luo, Si; Han, Yaoling; Yu, Bin; Muss, Candace; Pingault, Veronique; Marlin, Sandrine; Delahaye, Andrée; Peters, Sophia; Perne, Claudia; Kreiß, Martina; Spataro, Nino; Trujillo-Quintero, Juan Pablo; Racine, Caroline; Tran-Mau-Them, Frederic; Phornphutkul, Chanika; Besterman, Aaron D.; Martinez, Julian; Wang, Xiuxia; Tian, Xiaoyu; Srivastava, Siddharth; Urion, David K.; Madden, Jill A.; Saif, Hind Al; Morrow, Michelle M.; Begtrup, Amber; Li, Xing; Jurgensmeyer, Sarah; Leahy, Peter; Zhou, Shimin; Li, Faxiang; Hu, Zhengmao; Tan, Jieqiong; Xia, Kun; Guo, Hui
Molecular Psychiatry. 30(5):1952-1965
Academic Journal
Gong, Maolei; Li, Jiayi; Qin, Zailong; Machado Bressan Wilke, Matheus Vernet; Liu, Yijun; Li, Qian; Liu, Haoran; Liang, Chen; Morales-Rosado, Joel; Cohen, Ana S.A.; Hughes, Susan; Sullivan, Bonnie; Waddell, Valerie; van den Boogaard, Marie-José; van Jaarsveld, Richard; van Binsbergen, Ellen; van Gassen, Koen; Wang, Tianyun; Hiatt, Susan; Amaral, Michelle; Kelley, Whitley; Zhao, Jianbo; Feng, Weixing; Ren, Changhong; Yu, Yazhen; Boczek, Nicole; Ferber, Matthew; Lahner, Carrie; Elliott, Sherr; Ruan, Yiyan; Mignot, Cyril; Keren, Boris; Xie, Hua; Wang, Xiaoyan; Popp, Bernt; Zweier, Christiane; Piard, Juliette; Coubes, Christine; Mau-Them, Frederic Tran; Safraou, Hana; Innes, A. Micheil; Gauthier, Julie; Michaud, Jacques; Koboldt, Daniel; Sylvie, Odent; Willems, Marjolaine; Tan, Wen-Hann; Cogne, Benjamin; Rieubland, Claudine; Braun, Dominique; Mclean, Scott Douglas; Platzer, Konrad; Zacher, Pia; Oppermann, Henry; Evenepoel, Lucie; Blanc, Pierre; El Khattabi, Laïla; Haque, Neshatul; Dsouza, Nikita; Zimmermann, Michael; Urrutia, Raul; Klee, Eric; Shen, Yiping; Du, Hongzhen; Rappaport, Leonard; Liu, Chang-Mei; Chen, Xiaoli
Am J Hum Genet
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