학술논문
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'학술논문'
에서 검색결과 261건 | 목록
1~20
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
Nappi, Mario; Barrese, Vincenzo; Carotenuto, Lidia; Lesca, Gaetan; Labalme, Audrey; Ville, Dorothee; Smol, Thomas; Rama, Mélanie; Dieux-Coeslier, Anne; Rivier-Ringenbach, Clotilde; Soldovieri, Maria Virginia; Ambrosino, Paolo; Mosca, Ilaria; Pusch, Michael; Miceli, Francesco; Taglialatela, Maurizio
Proceedings of the National Academy of Sciences of the United States of America, 2022 Apr 01. 119(15), 1-10.
Academic Journal
Vincent Michaud; Angèle Sequeira; Elina Mercier; Eulalie Lasseaux; Claudio Plaisant; Smail Hadj‐Rabia; Sandra Whalen; Dominique Bonneau; Anne Dieux‐Coeslier; Fanny Morice‐Picard; Juliette Coursimault; Benoît Arveiler; Sophie Javerzat
Pigment Cell & Melanoma Research. 37:534-545
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
Eduardo Calpena; Simon J. McGowan; Fiona Blanco Kelly; Elise Boudry‐Labis; Anne Dieux‐Coeslier; Rachel Harrison; Diana Johnson; Katherine Lachlan; Jenny E. V. Morton; Helen Stewart; Pradeep Vasudevan; Stephen R. F. Twigg; Andrew O. M. Wilkie
Human Mutation. 42:811-817
Academic Journal
Theodore G. Drivas; Dong Li; Divya Nair; Joseph T. Alaimo; Mariëlle Alders; Janine Altmüller; Tahsin Stefan Barakat; E. Martina Bebin; Nicole L. Bertsch; Patrick R. Blackburn; Alyssa Blesson; Arjan M. Bouman; Knut Brockmann; Perrine Brunelle; Margit Burmeister; Gregory M. Cooper; Jonas Denecke; Anne Dieux-Coëslier; Holly Dubbs; Alejandro Ferrer; Danna Gal; Lauren E. Bartik; Lauren B. Gunderson; Linda Hasadsri; Mahim Jain; Catherine Karimov; Beth Keena; Eric W. Klee; Katja Kloth; Baiba Lace; Marina Macchiaiolo; Julien L. Marcadier; Jeff M. Milunsky; Melanie P. Napier; Xilma R. Ortiz-Gonzalez; Pavel N. Pichurin; Jason Pinner; Zoe Powis; Chitra Prasad; Francesca Clementina Radio; Kristen J. Rasmussen; Deborah L. Renaud; Eric T. Rush; Carol Saunders; Duygu Selcen; Ann R. Seman; Deepali N. Shinde; Erica D. Smith; Thomas Smol; Lot Snijders Blok; Joan M. Stoler; Sha Tang; Marco Tartaglia; Michelle L. Thompson; Jiddeke M. van de Kamp; Jingmin Wang; Dagmar Weise; Karin Weiss; Rixa Woitschach; Bernd Wollnik; Huifang Yan; Elaine H. Zackai; Giuseppe Zampino; Philippe Campeau; Elizabeth Bhoj
Eur J Hum Genet
Drivas, T G, Li, D, Nair, D, Alaimo, J T, Alders, M, Altmüller, J, Barakat, T S, Bebin, E M, Bertsch, N L, Blackburn, P R, Blesson, A, Bouman, A M, Brockmann, K, Brunelle, P, Burmeister, M, Cooper, G M, Denecke, J,Dieux -Coëslier , A, Dubbs, H, Ferrer, A, Gal, D, Bartik, L E, Gunderson, L B, Hasadsri, L, Jain, M, Karimov, C, Keena, B, Klee, E W, Kloth, K, Lace, B, Macchiaiolo, M, Marcadier, J L, Milunsky, J M, Napier, M P, Ortiz-Gonzalez, X R, Pichurin, P N, Pinner, J, Powis, Z, Prasad, C, Radio, F C, Rasmussen, K J, Renaud, D L, Rush, E T, Saunders, C, Selcen, D, Seman, A R, Shinde, D N, Smith, E D, Smol, T, Snijders Blok, L, Stoler, J M, Tang, S, Tartaglia, M, Thompson, M L, van de Kamp, J M, Wang, J, Weise, D, Weiss, K, Woitschach, R, Wollnik, B, Yan, H, Zackai, E H, Zampino, G, Campeau, P & Bhoj, E 2020, 'A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome', European Journal of Human Genetics, vol. 28, no. 10, pp. 1422-1431. https://doi.org/10.1038/s41431-020-0654-4
Paediatrics Publications
Drivas, T G, Li, D, Nair, D, Alaimo, J T, Alders, M, Altmüller, J, Barakat, T S, Bebin, E M, Bertsch, N L, Blackburn, P R, Blesson, A, Bouman, A M, Brockmann, K, Brunelle, P, Burmeister, M, Cooper, G M, Denecke, J,
Paediatrics Publications
Academic Journal
Castilla-Vallmanya L.; Selmer K. K.; Dimartino C.; Rabionet R.; Blanco-Sanchez B.; Yang S.; Reijnders M. R. F.; van Essen A. J.; Oufadem M.; Vigeland M. D.; Stadheim B.; Houge G.; Cox H.; Kingston H.; Clayton-Smith J.; Innis J. W.; Iascone M.; Cereda A.; Gabbiadini S.; Chung W. K.; Sanders V.; Charrow J.; Bryant E.; Millichap J.; Vitobello A.; Thauvin C.; Mau-Them F. T.; Faivre L.; Lesca G.; Labalme A.; Rougeot C.; Chatron N.; Sanlaville D.; Christensen K. M.; Kirby A.; Lewandowski R.; Gannaway R.; Aly M.; Lehman A.; Clarke L.; Graul-Neumann L.; Zweier C.; Lessel D.; Lozic B.; Aukrust I.; Peretz R.; Stratton R.; Smol T.; Dieux-Coeslier A.; Meira J.; Wohler E.; Sobreira N.; Beaver E. M.; Heeley J.; Briere L. C.; High F. A.; Sweetser D. A.; Walker M. A.; Keegan C. E.; Jayakar P.; Shinawi M.; Kerstjens-Frederikse W. S.; Earl D. L.; Siu V. M.; Reesor E.; Yao T.; Hegele R. A.; Vaske O. M.; Rego S.; Shapiro K. A.; Wong B.; Gambello M. J.; McDonald M.; Karlowicz D.; Colombo R.; Serretti A.; Pais L.; O'Donnell-Luria A.; Wray A.; Sadedin S.; Chong B.; Tan T. Y.; Christodoulou J.; White S. M.; Slavotinek A.; Barbouth D.; Morel Swols D.; Parisot M.; Bole-Feysot C.; Nitschke P.; Pingault V.; Munnich A.; Cho M. T.; Cormier-Daire V.; Balcells S.; Lyonnet S.; Grinberg D.; Amiel J.; Urreizti R.; Gordon C. T.
Dipòsit Digital de la UB
Universidad de Barcelona
Articles publicats en revistes (Genètica, Microbiologia i Estadística)
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Genetics in Medicine, vol 22, iss 7
Universidad de Barcelona
Articles publicats en revistes (Genètica, Microbiologia i Estadística)
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Genetics in Medicine, vol 22, iss 7
Academic Journal
Thomas Husson; François Lecoquierre; Gaël Nicolas; Anne-Claire Richard; Alexandra Afenjar; Séverine AUDEBERT-BELLANGER; Catherine Badens; Frédéric Bilan; Varoona Bizaoui; Anne Boland; Marie-Noelle Bonnet-Dupeyron; Elise Brischoux-Boucher; Céline Bonnet; Marie Bournez; Odile Boute; Perrine Brunelle; Roseline Caumes; Perrine Charles; Nicolas Chassaing; Nicolas Chatron; Benjamin Cogné; Estelle Colin; Valérie Cormier-Daire; Rodolphe Dard; Benjamin Dauriat; Julian Delanne; Jean-François Deleuze; Florence Demurger; Anne-Sophie Denommé-Pichon; Christel Depienne; Anne Dieux Coeslier; Christèle Dubourg; Patrick Edery; salima EL CHEHADEH; Laurence Faivre; Mélanie FRADIN; Aurore Garde; David Geneviève; Brigitte Gilbert-Dussardier; Cyril Goizet; Alice Goldenberg; Evan Gouy; Anne-Marie Guerrot; Anne Guimier; Ines HARZALLAH; Delphine Héron; Bertrand Isidor; Xavier Le Guillou Horn; Boris Keren; Alma Kuechler; Elodie Lacaze; Alinoë Lavillaureix; Daphné Lehalle; Gaetan Lesca; James Lespinasse; Jonathan Levy; Stanislas Lyonnet; Godelieve Morel; Nolwenn Jean Marçais; Sandrine Marlin; Luisa Marsili; Cyril Mignot; Sophie Nambot; Mathilde Nizon; Robert Olaso; Laurent PASQUIER; Laurine Perrin; Florence Petit; Amélie Piton; Fabienne Prieur; Audrey Putoux; Marc Planes; Sylvie Odent; Chloé Quelin; Sylvia Quemener; Mélanie Rama; Marlène RIO; Massimiliano Rossi; Elise Schaefer; Sophie Rondeau; Pascale SAUGIER-VEBER; Thomas Smol; Sabine Sigaudy; Renaud TOURAINE; Frédéric Tran-Mau-Them; Aurélien Trimouille; Clémence Vanlerberghe; Valérie Vantalon; Gabriella Vera; Marie Vincent; Alban Ziegler; Olivier Guillin; Dominique Campion; Camille Charbonnier
Academic Journal
Nizon M; Département de Génétique, Université Paris Descartes-Sorbonne Paris Cité, INSERM UMR1163, Institut IMAGINE, Hôpital Necker-Enfants Malades, Paris, France.; Henry M; Département de Génétique, Université Paris Descartes-Sorbonne Paris Cité, INSERM UMR1163, Institut IMAGINE, Hôpital Necker-Enfants Malades, Paris, France.; Michot C; Département de Génétique, Université Paris Descartes-Sorbonne Paris Cité, INSERM UMR1163, Institut IMAGINE, Hôpital Necker-Enfants Malades, Paris, France.; Baumann C; Département de Génétique, CHU Robert Debré, Paris, France.; Bazin A; Département de Génétique, CH René Dubos, Pontoise, France.; Bessières B; Département de Génétique, Université Paris Descartes-Sorbonne Paris Cité, INSERM UMR1163, Institut IMAGINE, Hôpital Necker-Enfants Malades, Paris, France.; Blesson S; Service de Génétique, CHRU Tours, Hôpital Bretonneau, Tours, France.; Cordier-Alex MP; Service de Génétique Clinique, Hospices Civils de Lyon, Bron, France.; David A; Service de Génétique Médicale, CHU, Nantes, France.; Delahaye-Duriez A; Service de Génétique, CHU Paris Seine-Saint-Denis, Hôpital Jean Verdier, Bondy, France.; Delezoïde AL; Département de Génétique, CHU Robert Debré, Paris, France.; Dieux-Coeslier A; Service de Génétique Clinique, CHRU de Lille, Hôpital Jeanne de Flandre, Lille, France.; Doco-Fenzy M; Service de Génétique, CHU de Reims, Hôpital Maison Blanche, Reims, France.; Faivre L; Centre de Génétique, CHU de Dijon, Dijon, France.; Goldenberg A; Département de Génétique, CHU, Rouen, France.; Layet V; Service de Génétique Médicale, GH du Havre, Hôpital Jacques Monod, Le Havre, France.; Loget P; Service d'anatomie et cytologie pathologiques, Hôpital Pontchaillou, Université de Rennes 1, CHU, Rennes, France.; Marlin S; Département de Génétique, Université Paris Descartes-Sorbonne Paris Cité, INSERM UMR1163, Institut IMAGINE, Hôpital Necker-Enfants Malades, Paris, France.; Martinovic J; Département de Génétique, Université Paris Descartes-Sorbonne Paris Cité, INSERM UMR1163, Institut IMAGINE, Hôpital Necker-Enfants Malades, Paris, France.; Odent S; Service de Génétique Clinique, CHU Rennes, Hôpital Sud, Rennes, France.; Pasquier L; Service de Génétique Clinique, CHU Rennes, Hôpital Sud, Rennes, France.; Plessis G; Service de Génétique Médicale, CHU Clémenceau, Caen, France.; Prieur F; Service de Génétique Clinique, CHU de Saint-Etienne, Hôpital Nord, Saint-Priest-en-Jarez, France.; Putoux A; Service de Génétique Clinique, Hospices Civils de Lyon, Bron, France.; Rio M; Département de Génétique, Université Paris Descartes-Sorbonne Paris Cité, INSERM UMR1163, Institut IMAGINE, Hôpital Necker-Enfants Malades, Paris, France.; Testard H; Département de Pédiatrie, CHU Grenoble, Grenoble, France.; Bonnefont JP; Département de Génétique, Université Paris Descartes-Sorbonne Paris Cité, INSERM UMR1163, Institut IMAGINE, Hôpital Necker-Enfants Malades, Paris, France.; Cormier-Daire V; Département de Génétique, Université Paris Descartes-Sorbonne Paris Cité, INSERM UMR1163, Institut IMAGINE, Hôpital Necker-Enfants Malades, Paris, France.
Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE
Academic Journal
Thomas Smol; Caroline Thuillier; Elise Boudry-Labis; Anne Dieux-Coeslier; Bénédicte Duban-Bedu; Roseline Caumes; Sonia Bouquillon; Sylvie Manouvrier-Hanu; Catherine Roche-Lestienne; Jamal Ghoumid
neurogenetics. 21:67-72
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Schanze D; Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.; Neubauer D; Cormier-Daire V; Delrue MA; Dieux-Coeslier A; Hasegawa T; Holmberg EE; Koenig R; Krueger G; Schanze I; Seemanova E; Shaw AC; Vogt J; Volleth M; Reis A; Meinecke P; Hennekam RC; Zenker M
Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE
Academic Journal
Kate Wolfe; Andrew McQuillin; Viola Alesi; Elise Boudry Labis; Peter Cutajar; Bruno Dallapiccola; Maria Lisa Dentici; Anne Dieux‐Coeslier; Benedicte Duban‐Bedu; Tina Duelund Hjortshøj; Himanshu Goel; Sara Loddo; Deborah Morrogh; Anne‐Laure Mosca‐Boidron; Antonio Novelli; Laurence Olivier‐Faivre; Jennifer Parker; Michael J. Parker; Christine Patch; Anna L. Pelling; Thomas Smol; Zeynep Tümer; Olivier Vanakker; Arie van Haeringen; Clémence Vanlerberghe; Andre Strydom; David Skuse; Nick Bass
Am J Med Genet B Neuropsychiatr Genet
Wolfe, K, McQuillin, A, Alesi, V, Boudry Labis, E, Cutajar, P, Dallapiccola, B, Dentici, M L,Dieux -Coeslier , A, Duban-Bedu, B, Duelund Hjortshøj, T, Goel, H, Loddo, S, Morrogh, D, Mosca-Boidron, A-L, Novelli, A, Olivier-Faivre, L, Parker, J, Parker, M J, Patch, C, Pelling, A L, Smol, T, Tümer, Z, Vanakker, O, van Haeringen, A, Vanlerberghe, C, Strydom, A, Skuse, D & Bass, N 2018, ' Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications ', American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, vol. 177, no. 4, pp. 397-405 . https://doi.org/10.1002/ajmg.b.32627
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS
Wolfe, K, McQuillin, A, Alesi, V, Boudry Labis, E, Cutajar, P, Dallapiccola, B, Dentici, M L,
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS
Academic Journal
Seidowsky A; Hoffmann M; Glowacki F; Dhaenens CM; Devaux JP; de Sainte Foy CL; Provot F; Gheerbrant JD; Hummel A; Hazzan M; Dracon M; Dieux-Coeslier A; Copin MC; Noël C; Buob D
Publisher: Dustri-Verlag Dr. Karl Feistle Country of Publication: Germany NLM ID: 0364441 Publication Model: Print Cited Medium: Print ISSN: 0301-0430 (Print) Linking ISSN: 03010430 NLM ISO Abbreviation: Clin Nephrol Subsets: MEDLINE
Academic Journal
Mario Nappi; Vincenzo Barrese; Lidia Carotenuto; Gaetan Lesca; Audrey Labalme; Dorothee Ville; Thomas Smol; Mélanie Rama; Anne Dieux-Coeslier; Clotilde Rivier-Ringenbach; Maria Virginia Soldovieri; Paolo Ambrosino; Ilaria Mosca; Michael Pusch; Francesco Miceli; Maurizio Taglialatela
Proc Natl Acad Sci U S A
Proceedings of the National Academy of Sciences of the United States of America 119 (2022). doi:10.1073/pnas.2116887119
info:cnr-pdr/source/autori:Nappi Mario, Barrese Vincenzo, Carotenuto Lidia, Lesca Gaetan, Labalme Audrey, Ville Dorothee, Smol Thomas, Rama Melanie,Dieux -Coeslier Anne, Rivier-Ringenbach Clotilde, Soldovieri Maria Virginia, Ambrosino Paolo, Mosca Ilaria, Pusch Michael, Miceli Francesco and Taglialatela Maurizio/titolo:Gain of function due to increased opening probability by two KCNQ5 pore variants causing developmental and epileptic encephalopathy/doi:10.1073%2Fpnas.2116887119/rivista:Proceedings of the National Academy of Sciences of the United States of America/anno:2022/pagina_da:/pagina_a:/intervallo_pagine:/volume:119
Proceedings of the National Academy of Sciences of the United States of America 119 (2022). doi:10.1073/pnas.2116887119
info:cnr-pdr/source/autori:Nappi Mario, Barrese Vincenzo, Carotenuto Lidia, Lesca Gaetan, Labalme Audrey, Ville Dorothee, Smol Thomas, Rama Melanie,
Academic Journal
Desmyter L; Laboratory of Human Molecular Genetics, de Duve Institute, Belgium, France.; Ghassibe M; Revencu N; Boute O; Lees M; François G; Verellen-Dumoulin C; Sznajer Y; Moncla A; Benateau H; Claes K; Devriendt K; Mathieu M; Van Maldergem L; Addor MC; Drouin-Garraud V; Mortier G; Bouma M; Dieux-Coeslier A; Genevieve D; Goldenberg A; Gozu A; Makrythanasis P; McEntagart U; Sanchez A; Vilain C; Vermeer S; Connell F; Verheij J; Manouvrier S; Pierquin G; Odent S; Holder-Espinasse M; Vincent-Delorme C; Gillerot Y; Vanwijck R; Bayet B; Vikkula M
Publisher: S. Karger Country of Publication: Switzerland NLM ID: 101525192 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1661-8769 (Print) Linking ISSN: 16618769 NLM ISO Abbreviation: Mol Syndromol Subsets: PubMed not MEDLINE
Academic Journal
Stichelbout M; Service d' Anatomie-Pathologie, Centre de Biologie Pathologie, CHU Lille, France.; Dieux-Coeslier A; Service de Génétique Clinique, Hôpital Jeanne de Flandre, CHU Lille, France.; Clouqueur E; Service de Gynécologie-Obstétrique, Hôpital Jeanne de Flandre, CHU Lille, France.; Collet C; Service de Biochimie et Biologie Moléculaire, Hôpital Lariboisière, CHU Paris, France.; Petit F; Service de Génétique Clinique, Hôpital Jeanne de Flandre, CHU Lille, France.
Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE
Academic Journal
Pasmant E; UMR745 INSERM, Université Paris Descartes, Faculté des Sciences Pharmaceutiques et Biologiques, Paris, France. eric.pasmant@etu.univ-paris5.fr; de Saint-Trivier A; Laurendeau I; Dieux-Coeslier A; Parfait B; Vidaud M; Vidaud D; Bièche I
Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1018-4813 (Print) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
Academic Journal
Hoornaert KP; Center for Medical Genetics, Ghent University Hospital, Gent, Belgium. [corrected]; Vereecke I; Dewinter C; Rosenberg T; Beemer FA; Leroy JG; Bendix L; Björck E; Bonduelle M; Boute O; Cormier-Daire V; De Die-Smulders C; Dieux-Coeslier A; Dollfus H; Elting M; Green A; Guerci VI; Hennekam RC; Hilhorts-Hofstee Y; Holder M; Hoyng C; Jones KJ; Josifova D; Kaitila I; Kjaergaard S; Kroes YH; Lagerstedt K; Lees M; Lemerrer M; Magnani C; Marcelis C; Martorell L; Mathieu M; McEntagart M; Mendicino A; Morton J; Orazio G; Paquis V; Reish O; Simola KO; Smithson SF; Temple KI; Van Aken E; Van Bever Y; van den Ende J; Van Hagen JM; Zelante L; Zordania R; De Paepe A; Leroy BP; De Buyzere M; Coucke PJ; Mortier GR
Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
Academic Journal
Dennert, Nicola; Engels, Hartmut; Cremer, Kirsten; Becker, Jessica; Wohlleber, Eva; Albrecht, Beate; Ehret, Julia K.; Lüdecke, Hermann Josef; Suri, Mohnish; Carignani, Giulia; RENIERI, ALESSANDRA; Kukuk, Guido M.; Wieland, Thomas; Andrieux, Joris; Strom, Tim M.; Wieczorek, Dagmar; Dieux Coëslier, Anne; Zink, Alexander M.
Am. J. Med. Genet. A 173, 435-443 (2017)
Academic Journal
Smol, T.; Petit, F.; Piton, A.; Keren, B.; Sanlaville, D.; Afenjar, A.; Baker, S.; Bedoukian, E.; Bhoj, E.; Bonneau, D.; Boudry-Labis, E.; Bouquillon, S.; Boute-Benejean, O.; Caumes, R.; Chatron, N.; Colson, Cindy; Coubes, C.; Coutton, C.; Devillard, F.; Dieux-Coeslier, A.; Doco-Fenzy, M.; Ewans, L.J.; Faivre, L.; Fassi, E.; Field, M.; Fournier, Clarisse; Francannet, C.; Geneviève, D.; Giurgea, I.; Goldenberg, A.; Green, A.; Guerrot, A.; Heron, D.; Isidor, B.; Keena, B.; Krock, B.; Kuentz, P.; Lapi, E.; Le Meur, N.; Lesca, G.; Li, D.; Marey, I.; Mignot, C.; Nava, C.; Nesbitt, A.; Nicolas, G.; Roche-Lestienne, C.; Roscioli, T.; Satre, V.; Santani, A.; Stefanova, M.; Steinwall Larsen, S.; Saugier-Veber, P.; Picker-Minh, S.; Thuillier, C.; Verloes, A.; Vieville, G.; Wenzel, M.; Willems, M.; Whalen, S.; Zarate, Y.; Ziegler, A.; Manouvrier-Hanu, S.; Kalscheuer, V.; Gérard, B.; Ghoumid, Jamal
Neurogenetics
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