학술논문
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'학술논문'
에서 검색결과 368건 | 목록
1~20
Academic Journal
Jung, Hyeji; Kim, Byeongchan; Jang, Gyubin; Lee, Hyojung; Kim, Younghye; Kim, Hyeonho; Lee, Hea Ji; Kim, Dongwook; Yang, Yeji; Jeong, Woo Chan; Kim, Seungjoon; Han, Ah-reum; Kim, Ho Min; Papadopoulos, Theofilos; Durand, Benjamin; Francannet, Christine; Piton, Amélie; Kim, Jin Young; Ko, Jaewon; Um, Ji Won
Molecular Psychiatry. 31(3):1757-1773
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
Vegas, Nancy; Rio, Marlène; Adnot, Pauline; Soupre, Véronique; Petit, Florence; Ghoumid, Jamal; Toutain, Annick; Dieterich, Klaus; Marey, Isabelle; Gilbert-Dussardier, Brigitte; Le Guyader, Gwenaël; Francannet, Christine; Schaefer, Elise; Perrin, Laurence; Nizon, Mathilde; Beneteau, Claire; Genevieve, David; Willems, Marjolaine; Faivre, Laurence; Grimaldi, Marianne; Melki, Judith; Stoeva, Radka; Putoux, Audrey; Pons, Linda; Benistan, Karelle; Amiel, Jeanne; Abadie, Véronique
Orphanet Journal of Rare Diseases. 20(1)
Academic Journal
Jeanne, Médéric; Ronce, Nathalie; Remizé, Solène; Arpin, Stéphanie; Baujat, Geneviève; Breton, Sylvain; Petit, Florence; Vanlerberghe, Clémence; Coeslier-Dieux, Anne; Manouvrier-Hanu, Sylvie; Vincent-Delorme, Catherine; Khau Van Kien, Philippe; Van-Gils, Julien; Quélin, Chloé; Pasquier, Laurent; Odent, Sylvie; Demurger, Florence; Laffargue, Fanny; Francannet, Christine; Martin-Coignard, Dominique; Afenjar, Alexandra; Whalen, Sandra; Verloes, Alain; Capri, Yline; Delahaye, Andrée; Plaisancié, Julie; Labrune, Philippe; Destree, Anne; Maystadt, Isabelle; Ciorna Monferrato, Viorca; Isidor, Bertrand; Vincent, Marie; Jean Marçais, Nolwen; Nambot, Sophie; Schaefer, Elise; El Chehadeh, Salima; Lespinasse, James; Collignon, Patrick; Busa, Tiffany; Philip, Nicole; Willems, Marjolaine; Planes, Marc; Vanakker, Olivier; Lambert, Laetitia; Leheup, Bruno; Mathieu-Dramard, Michèle; Morin, Gilles; Dieterich, Klaus; Ginglinger, Emmanuelle; Bayat, Allan; Balasubramanian, Meena; Dauriat, Benjamin; Haye, Damien; Amiel, Jeanne; Rio, Marlène; Cormier-Daire, Valérie; Toutain, Annick
Journal of Medical Genetics. 62:258-267
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
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
Mio Aerden; Anne-Sophie Denommé-Pichon; Dominique Bonneau; Ange-Line Bruel; Julian Delanne; Bénédicte Gérard; Benoît Mazel; Christophe Philippe; Lucile Pinson; Clément Prouteau; Audrey Putoux; Frédéric Tran Mau-Them; Éléonore Viora-Dupont; Antonio Vitobello; Alban Ziegler; Amélie Piton; Bertrand Isidor; Christine Francannet; Pierre-Yves Maillard; Sophie Julia; Anais Philippe; Elise Schaefer; Saskia Koene; Claudia Ruivenkamp; Mariette Hoffer; Eric Legius; Miel Theunis; Boris Keren; Julien Buratti; Perrine Charles; Thomas Courtin; Mala Misra-Isrie; Mieke van Haelst; Quinten Waisfisz; Dagmar Wieczorek; Ariane Schmetz; Theresia Herget; Fanny Kortüm; Jasmin Lisfeld; François-Guillaume Debray; Nuria C. Bramswig; Isis Atallah; Heidi Fodstad; Guillaume Jouret; Berta Almoguera; Saoud Tahsin-Swafiri; Fernando Santos-Simarro; Maria Palomares-Bralo; Vanesa López-González; Maria Kibaek; Pernille M. Tørring; Alessandra Renieri; Lucia Pia Bruno; Katrin Õunap; Monica Wojcik; Tzung-Chien Hsieh; Peter Krawitz; Hilde Van Esch
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Aerden, M, Denommé-Pichon, A-S, Bonneau, D, Bruel, A-L, Delanne, J, Gérard, B N, Mazel, B, Philippe, C, Pinson, L, Prouteau, C, Putoux, A, Tran Mau-Them, F, Viora-Dupont, É, Vitobello, A, Ziegler, A, Piton, A, Isidor, B,Francannet , C, Maillard, P-Y, Julia, S, Philippe, A, Schaefer, E, Koene, S, Ruivenkamp, C, Hoffer, M, Legius, E, Theunis, M, Keren, B, Buratti, J, Charles, P, Courtin, T, Misra-Isrie, M, van Haelst, M, Waisfisz, Q, Wieczorek, D, Schmetz, A, Herget, T, Kortüm, F, Lisfeld, J, Debray, F-G, Bramswig, N C, Atallah, I, Fodstad, H, Jouret, G, Almoguera, B, Tahsin-Swafiri, S, Santos-Simarro, F, Palomares-Bralo, M, López-González, V, Kibaek, M, Tørring, P M, Renieri, A, Bruno, L P, Õunap, K, Wojcik, M, Hsieh, T-C, Krawitz, P & van Esch, H 2023, 'The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant', European Journal of Human Genetics, vol. 31, no. 4, pp. 461-468. https://doi.org/10.1038/s41431-023-01307-x
Consejería de Sanidad de la Comunidad de Madrid
Aerden, M, Denommé-Pichon, A-S, Bonneau, D, Bruel, A-L, Delanne, J, Gérard, B N, Mazel, B, Philippe, C, Pinson, L, Prouteau, C, Putoux, A, Tran Mau-Them, F, Viora-Dupont, É, Vitobello, A, Ziegler, A, Piton, A, Isidor, B,
Academic Journal
Lanvin, Pierre‐louis; Goronflot, Thomas; Isidor, Bertrand; Nizon, Mathilde; Durand, Benjamin; El Chehadeh, Salima; Geneviève, David; Ruault, Valentin; Fradin, Mélanie; Pasquier, Laurent; Thevenon, Julien; Delobel, Bruno; Burglen, Lydie; Afenjar, Alexandra; Faivre, Laurence; Francannet, Christine; Guerrot, Anne‐marie; Goldenberg, Alice; Mercier, Sandra; Héron, Delphine; Lehalle, Daphné; Mignot, Cyril; Marey, Isabelle; Charles, Perrine; Moutton, Sébastien; Bézieau, Stéphane; Bayat, Allan; Piton, Amélie; Willems, Marjolaine; Vincent, Marie
American Journal of Medical Genetics Part A. 194:9-16
Academic Journal
Marzin, Pauline; Rondeau, Sophie; Alessandri, Jean-Luc; Dieterich, Klaus; Le Goff, Carine; Mahaut, Clémentine; Mercier, Sandra; Michot, Caroline; Moldovan, Oana; Miolo, Gianmaria; Rossi, Massimiliano; Van-Gils, Julien; Francannet, Christine; Robert, Matthieu; Jaïs, Jean-Philippe; Huber, Céline; Cormier-Daire, Valerie
Journal of Medical Genetics. 61:109-116
Academic Journal
Laquerriere, Annie; Jaber, Dana; Abiusi, Emanuela; Maluenda, Jérome; Mejlachowicz, Dan; Vivanti, Alexandre; Dieterich, Klaus; Stoeva, Radka; Quevarec, Loic; Nolent, Flora; Biancalana, Valérie; Latour, Philippe; Sternberg, Damien; Capri, Yline; Verloes, Alain; Bessieres, Bettina; Loeuillet, Laurence; Attie-Bitach, Tania; Martinovic, Jelena; Blesson, Sophie; Petit, Florence; Beneteau, Claire; Whalen, Sandra; Marguet, Florent; Bouligand, Jerome; Héron, Delphine; Viot, Géraldine; Amiel, Jeanne; Amram, Daniel; Bellesme, Céline; Bucourt, Martine; Faivre, Laurence; Jouk, Pierre-Simon; Khung, Suonavy; Sigaudy, Sabine; Delezoide, Anne-Lise; Goldenberg, Alice; Jacquemont, Marie-Line; Lambert, Laetitia; Layet, Valérie; Lyonnet, Stanislas; Munnich, Arnold; van Maldergem, Lionel; Piard, Juliette; Guimiot, Fabien; Landrieu, Pierre; Letard, Pascaline; Pelluard, Fanny; Perrin, Laurence; Saint-Frison, Marie-Hélène; Topaloglu, Haluk; Trestard, Laetitia; Vincent-Delorme, Catherine; Amthor, Helge; Barnerias, Christine; Benachi, Alexandra; Bieth, Eric; Boucher, Elise; Cormier-Daire, Valerie; Delahaye-Duriez, Andrée; Desguerre, Isabelle; Eymard, Bruno; Francannet, Christine; Grotto, Sarah; Lacombe, Didier; Laffargue, Fanny; Legendre, Marine; Martin-Coignard, Dominique; Megarbané, André; Mercier, Sandra; Nizon, Mathilde; Rigonnot, Luc; Prieur, Fabienne; Quelin, Chloé; Ranjatoelina-Randrianaivo, Hanitra; Resta, Nicoletta; Toutain, Annick; Verhelst, Helene; Vincent, Marie; Colin, Estelle; Fallet-Bianco, Catherine; Granier, Michèle; Grigorescu, Romulus; Saada, Julien; Gonzales, Marie; Guiochon-Mantel, Anne; Bessereau, Jean-Louis; Tawk, Marcel; Gut, Ivo; Gitiaux, Cyril; Melki, Judith
J Med Genet
JOURNAL OF MEDICAL GENETICS
JOURNAL OF MEDICAL GENETICS
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. 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In Genetics in Medicine April 2023 25(4)
Academic Journal
Harion, Madeleine; Qebibo, Leila; Riquet, Audrey; Rougeot, Christelle; Afenjar, Alexandra; Garel, Catherine; Louha, Malek; Lacaze, Emmanuelle; Audic-Gérard, Frédérique; Barth, Magali; Berquin, Patrick; Bonneau, Dominique; Bourdain, Frédéric; Busa, Tiffany; Colin, Estelle; Cuisset, Jean-Marie; Des Portes, Vincent; Dorison, Nathalie; Francannet, Christine; Héron, Bénédicte; Laroche, Cécile; Lebrun, Marine; Métreau, Julia; Odent, Sylvie; Pasquier, Laurent; Trujillo, Yaumara Perdomo; Perrin, Laurine; Pinson, Lucile; Rivier, Francois; Sigaudy, Sabine; Thauvin-Robinet, Christel; Louvier, Ulrike Walther; Labayle, Olivier; Rodriguez, Diana; Valence, Stéphanie; Burglen, Lydie
Journal of Medical Genetics. 60:578-586
Academic Journal
Rocatcher, Aude; Desquiret-Dumas, Valérie; Charif, Majida; Ferré, Marc; Gohier, Philippe; Mirebeau-Prunier, Delphine; Verny, Christophe; Milea, Dan; Lenaers, Guy; Vignal, Catherine; Lamirel, Cédric; Hage, Rabih; Dollfus, Hélène; Meunier, Isabelle; Zanlonghi, Xavier; Touitou, Valérie; Lebranchu, Pierre; Odent, Sylvie; Tilikete, Caroline Froment; Jeanjean, Luc; Defoort-Dhellemmes, Sabine; Drumare-Bouvet, Isabelle; Smirnov, Vasily; Vincent-Delorme, Catherine; Biotti, Damien; Varenne, Fanny; Calvas, Patrick; Chassaing, Nicolas; Cohen, Mickael; Orssaud, Christophe; Mochel, Fanny; Roubertie, Agathe; Toutain, Annick; Pollet-Villard, Frédéric; Dupeyron, Marie Noelle Bonnet; Boulicot, Céline; Cochener, Béatrice; Goldenberg, Alice; Jacquemont, Marie Line; Francannet, Christine; Bonneau, Dominique; Reynier, Pascal; Amati-Bonneau, Patrizia
Brain. 146:455-460
Academic Journal
Bourgon, Nicolas; Garde, Aurore; Bruel, Ange-Line; Lefebvre, Mathilde; Mau-Them, Frederic Tran; Moutton, Sebastien; Sorlin, Arthur; Nambot, Sophie; Delanne, Julian; Chevarin, Martin; Pöe, Charlotte; Thevenon, Julien; Lehalle, Daphné; Jean-Marçais, Nolween; Kuentz, Paul; Lambert, Laetitia; El Chehadeh, Salima; Schaefer, Elise; Willems, Marjolaine; Laffargue, Fanny; Francannet, Christine; Fradin, Mélanie; Gaillard, Dominique; Blesson, Sophie; Goldenberg, Alice; Capri, Yline; Sagot, Paul; Rousseau, Thierry; Simon, Emmanuel; Binquet, Christine; Ascencio, Marie-Laure; Duffourd, Yannis; Philippe, Christophe; Faivre, Laurence; Vitobello, Antonio; Thauvin-Robinet, Christel
European Journal of Human Genetics. 30:967-975
Academic Journal
Bergqvist, Christina; Fertitta, Laura; Ezzedine, Khaled; Jannic, Arnaud; Zehou, Ouidad; Ferkal, Salah; Combemale, Patrick; Barbarot, Sébastien; Mazereeuw-Hautier, Juliette; Sbidian, Emilie; Wolkenstein, Pierre; Adamski, Henri; Baumann-Morel, Clarisse; Bellanné, Christine; Bieth, Eric; Bousquet, Pascal; Brandt, Christian; Balguerie, Xavier; Castelnau, Pierre; Chaix, Yves; Chevrant-Breton, Jacqueline; Collet, Evelyne; Cuny, Jean‐françois; Chastagner, Pascal; Chandeclerc, Marie‐lorraine; Cheuret, Emmanuel; Cintas, Pascal; Dollfus, Helene; Derancourt, Christian; Drouin-Garraud, Valérie; d'Incan, Michel; de Leersnyder, Hélène; Dereure, Olivier; Doumar, Diane; Fabre, Nicolas; Francannet, Christine; Faivre, Laurence; Fellmann, Florence; Feugier, Nathalie; Gaillard, Dominique; Goldenberg, Alice; Guyant-Marechal, Lucie; Guillot, Bernard; Guillamo, Jean‐sebastien; Hadj-Rabia, Smaïl; Hamel-Teillac, Dominique; Kemlin, Isabelle; Lacour, Jean‐philippe; Laithier, Veronique; Lesavre, Nathalie; Lyonnet, Stanislas; Maincent, Kim; Maradeix, Sophie; Machet, Laurent; Mansat, Eva; Meyer, Nicolas; Mozelle, Monique; Celine Moret, Jean Christophe Moreno; Puzenat, Eric; Parfait, Béatrice; Pinson, Stéphane; Pasmant, Eric; Rodriguez, Diana; Stalder, Jean‐françois; Schweitzer, Elisabeth; Thalamas, Claire; Thauvin, Christel; Vidaud, Dominique; Vidaud, Michel; Verloes, Alain; Zeller, Jacques
Journal of the European Academy of Dermatology and Venereology. 36:739-743
Academic Journal
Benkirane, Mehdi; Marelli, Cecilia; Guissart, Claire; Roubertie, Agathe; Ollagnon, Elizabeth; Choumert, Ariane; Fluchère, Frédérique; Magne, Fabienne Ory; Halleb, Yosra; Renaud, Mathilde; Larrieu, Lise; Baux, David; Patat, Olivier; Bousquet, Idriss; Ravel, Jean-Marie; Cuntz-Shadfar, Danielle; Sarret, Catherine; Ayrignac, Xavier; Rolland, Anne; Morales, Raoul; Pointaux, Morgane; Lieutard-Haag, Cathy; Laurens, Brice; Tillikete, Caroline; Bernard, Emilien; Mallaret, Martial; Carra-Dallière, Clarisse; Tranchant, Christine; Meyer, Pierre; Damaj, Lena; Pasquier, Laurent; Acquaviva, Cecile; Chaussenot, Annabelle; Isidor, Bertrand; Nguyen, Karine; Camu, William; Eusebio, Alexandre; Carrière, Nicolas; Riquet, Audrey; Thouvenot, Eric; Gonzales, Victoria; Carme, Emilie; Attarian, Shahram; Odent, Sylvie; Castrioto, Anna; Ewenczyk, Claire; Charles, Perrine; Kremer, Laurent; Sissaoui, Samira; Bahi-Buisson, Nadia; Kaphan, Elsa; Degardin, Adrian; Doray, Bérénice; Julia, Sophie; Remerand, Ganaëlle; Fraix, Valerie; Haidar, Lydia Abou; Lazaro, Leila; Laugel, Vincent; Villega, Frederic; Charlin, Cyril; Frismand, Solène; Moreira, Marinha Costa; Witjas, Tatiana; Francannet, Christine; Walther-Louvier, Ulrike; Fradin, Mélanie; Chabrol, Brigitte; Fluss, Joel; Bieth, Eric; Castelnovo, Giovanni; Vergnet, Sylvain; Meunier, Isabelle; Verloes, Alain; Brischoux-Boucher, Elise; Coubes, Christine; Geneviève, David; Lebouc, Nicolas; Azulay, Jean Phillipe; Anheim, Mathieu; Goizet, Cyril; Rivier, Francois; Labauge, Pierre; Calvas, Patrick; Koenig, Michel
Genetics in Medicine. 23:2160-2170
Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder
Academic Journal
Courraud, Jérémie; Chater-Diehl, Eric; Durand, Benjamin; Vincent, Marie; del Mar Muñiz Moreno, Maria; Boujelbene, Imène; Drouot, Nathalie; Genschik, Lauréline; Schaefer, Elise; Nizon, Mathilde; Gerard, Bénédicte; Abramowicz, Marc; Cogné, Benjamin; Bronicki, Lucas; Burglen, Lydie; Barth, Magalie; Charles, Perrine; Colin, Estelle; Coubes, Christine; David, Albert; Delobel, Bruno; Demurger, Florence; Passemard, Sandrine; Denommé-Pichon, Anne-Sophie; Faivre, Laurence; Feger, Claire; Fradin, Mélanie; Francannet, Christine; Genevieve, David; Goldenberg, Alice; Guerrot, Anne-Marie; Isidor, Bertrand; Johannesen, Katrine M.; Keren, Boris; Kibæk, Maria; Kuentz, Paul; Mathieu-Dramard, Michele; Demeer, Bénédicte; Metreau, Julia; Møller, Rikke Steensbjerre; Moutton, Sébastien; Pasquier, Laurent; Pilekær Sørensen, Kristina; Perrin, Laurence; Renaud, Mathilde; Saugier, Pascale; Rio, Marlène; Svane, Joane; Thevenon, Julien; Tran Mau-Them, Frédéric; Tronhjem, Cathrine Elisabeth; Vitobello, Antonio; Layet, Valerie; Auvin, Stéphane; Khachnaoui, Khaoula; Birling, Marie-Christine; Drunat, Séverine; Bayat, Allan; Dubourg, Christèle; El Chehadeh, Salima; Fagerberg, Christina; Mignot, Cyril; Guipponi, Michel; Bienvenu, Thierry; Herault, Yann; Thompson, Julie; Willems, Marjolaine; Mandel, Jean-Louis; Weksberg, Rosanna; Piton, Amelie
Courraud, J, Chater-Diehl, E, Durand, B, Vincent, M, del Mar Muniz Moreno, M, Boujelbene, I, Drouot, N, Genschik, L, Schaefer, E, Nizon, M, Gerard, B, Abramowicz, M, Cogné, B, Bronicki, L, Burglen, L, Barth, M, Charles, P, Colin, E, Coubes, C, David, A, Delobel, B, Demurger, F, Passemard, S, Denommé, A S, Faivre, L, Feger, C, Fradin, M, Francannet , C, Genevieve, D, Goldenberg, A, Guerrot, A M, Isidor, B, Johannesen, K M, Keren, B, Kibæk, M, Kuentz, P, Mathieu-Dramard, M, Demeer, B, Metreau, J, Steensbjerre Møller, R, Moutton, S, Pasquier, L, Pilekær Sørensen, K, Perrin, L, Renaud, M, Saugier, P, Rio, M, Svane, J, Thevenon, J, Tran Mau Them, F, Tronhjem, C E, Vitobello, A, Layet, V, Auvin, S, Khachnaoui, K, Birling, M C, Drunat, S, Bayat, A, Dubourg, C, El Chehadeh, S, Fagerberg, C, Mignot, C, Guipponi, M, Bienvenu, T, Herault, Y, Thompson, J, Willems, M, Mandel, J L, Weksberg, R & Piton, A 2021, ' Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder ', Genetics in Medicine, vol. 23, no. 11, pp. 2150-2159 . https://doi.org/10.1038/s41436-021-01263-1
Academic Journal
Luu, Maxime; Maurer, Agnes; Canaud, Guillaume; Rega, Adelaïde; Guibaud, Laurent; Boddaert, Nathalie; KHAU VAN KIEN, Philippe; Petit, Florence; Colin, Estelle; Demeer, Bénédicte; Francannet, Christine; Boccara, Olivia; Lavillaureix, Alinoe; Maruani, Anabel; Espitalier, Aurélie; Fleck, Camille; Cransac-Miet, Amélie; Carpentier, Maud; Charligny, Julie; Bahi-Buisson, Nadia; Bardou, Marc; Faivre, Laurence
Academic Journal
Vaché, Christel; Baux, David; Bianchi, Julie; Baudoin, Corinne; Faugère, Valérie; Francannet, Christine; Koenig, Michel; Kalatzis, Vasiliki; Roux, Anne-Françoise
European Journal of Human Genetics. 30:34-41
Academic Journal
Ouedraogo, Zangbéwendé Guy; Janel, Caroline; Janin, Alexandre; Millat, Gilles; Langlais, Sarah; Pontier, Bénédicte; Biard, Marie; Lepage, Mathis; Francannet, Christine; Laffargue, Fanny; Creveaux, Isabelle
Genes. February, 2024, Vol. 15 Issue 2
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