학술논문
'학술논문'
에서 검색결과 37건 | 목록
1~10
Academic Journal
Loussouarn, Anna; Doummar, Diane; Beaugendre, Yara; Bienvenu, Thierry; Charles, Perrine; Depienne, Christel; Dorison, Nathalie; Heide, Solveig; Héron, Delphine; Ioos, Christine; Keren, Boris; Métreau, Julia; Mochel, Fanny; Moutard, Marie-Laure; Ravelli, Claudia; Apartis, Emmanuelle; Mignot, Cyril
In European Journal of Paediatric Neurology September 2021 34:62-66
Academic Journal
Oliver, Karen L.; Trivisano, Marina; Mandelstam, Simone A.; De Dominicis, Angela; Francis, David I.; Green, Timothy E.; Muir, Alison M.; Chowdhary, Apoorva; Hertzberg, Christoph; Goldhahn, Klaus; Metreau, Julia; Prager, Christine; Pinner, Jason; Cardamone, Michael; Myers, Kenneth A.; Leventer, Richard J.; Lesca, Gaetan; Bahlo, Melanie; Hildebrand, Michael S.; Mefford, Heather C.
Academic Journal
Popp, Bernt; Bienvenu, Thierry; Giurgea, Irina; Metreau, Julia; Kraus, Cornelia; Reis, André; Fischer, Jan; Bralo, María Palomares; Tenorio‐Castaño, Jair; Lapunzina, Pablo; Almoguera, Berta; Lopez‐Grondona, Fermina; Sticht, Heinrich; Zweier, Christiane
Periodical
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 (JMG); 2023, Vol. 60 Issue: 6 p578-586, 9p
Academic Journal
Harion, Madeleine; Qebibo, Leila; Riquet, Audrey; Rougeot, Christelle; Afenjar, Alexandra; Garel, Catherine; Louha, Malek; Lacaze, Emmanuelle; Audic-Gerard, Frederique; Barth, Magali; Berquin, Patrick; Bonneau, Dominique; Bourdain, Frederic; Busa, Tiffany; Colin, Estelle; Cuisset, Jean-Marie; Des Portes, Vincent; Dorison, Nathalie; Francannet, Christine; Heron, Benedicte; Laroche, Cecile; Lebrun, Marine; Metreau, 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, Stephanie; Burglen, Lydie
Periodical
Doummar, Diane; Dentel, Christel; Lyautey, Romane; Metreau, Julia; Keren, Boris; Drouot, Nathalie; Malherbe, Ludivine; Bouilleret, Viviane; Courraud, Jérémie; Valenti-Hirsch, Maria Paola; Minotti, Lorella; Dozieres-Puyravel, Blandine; Bär, Séverine; Scholly, Julia; Schaefer, Elise; Nava, Caroline; Wirth, Thomas; Nasser, Hala; de Salins, Marie; de Saint Martin, Anne; Warde, Marie Thérèse Abi; Kahane, Philippe; Hirsch, Edouard; Anheim, Mathieu; Friant, Sylvie; Chelly, Jamel; Mignot, Cyril; Rudolf, Gabrielle
European Journal of Human Genetics: EJHG; October 2020, Vol. 28 Issue: 10 p1403-1413, 11p
Periodical
Nambot, Sophie; Faivre, Laurence; Mirzaa, Ghayda; Thevenon, Julien; Bruel, Ange-Line; Mosca-Boidron, Anne-Laure; Masurel-Paulet, Alice; Goldenberg, Alice; Le Meur, Nathalie; Charollais, Aude; Mignot, Cyril; Petit, Florence; Rossi, Massimiliano; Metreau, Julia; Layet, Valérie; Amram, Daniel; Boute-Bénéjean, Odile; Bhoj, Elizabeth; Cousin, Margot A.; Kruisselbrink, Teresa M.; Lanpher, Brendan C.; Klee, Eric W.; Fiala, Elise; Grange, Dorothy K.; Meschino, Wendy S.; Hiatt, Susan M.; Cooper, Gregory M.; Olivié, Hilde; Smith, Wendy E.; Dumas, Meghan; Lehman, Anna; Inglese, Cara; Nizon, Mathilde; Guerrini, Renzo; Vetro, Annalisa; Kaplan, Eitan S.; Miramar, Dolores; Van Gils, Julien; Fergelot, Patricia; Bodamer, Olaf; Herkert, Johanna C.; Pajusalu, Sander; Õunap, Katrin; Filiano, James J.; Smol, Thomas; Piton, Amélie; Gérard, Bénédicte; Chantot-Bastaraud, Sandra; Bienvenu, Thierry; Li, Dong; Juusola, Jane; Devriendt, Koen; Bilan, Frederic; Poé, Charlotte; Chevarin, Martin; Jouan, Thibaud; Tisserant, Emilie; Rivière, Jean-Baptiste; Tran Mau-Them, Frédéric; Philippe, Christophe; Duffourd, Yannis; Dobyns, William B.; Hevner, Robert; Thauvin-Robinet, Christel
European Journal of Human Genetics: EJHG; June 2020, Vol. 28 Issue: 6 p770-782, 13p
Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder
Academic Journal
Courraud, Jeremie; Chater-Diehl, Eric; Durand, Benjamin; Vincent, Marie; del Mar Muniz Moreno, Maria; Boujelbene, Imene; Drouot, Nathalie; Genschik, Loreline; Schaefer, Elise; Nizon, Mathilde; Gerard, Benedicte; Abramowicz, Marc; Cogne, Benjamin; Bronicki, Lucas; Burglen, Lydie; Barth, Magalie; Charles, Perrine; Colin, Estelle; Coubes, Christine; David, Albert; Delobel, Bruno; Demurger, Florence; Passemard, Sandrine; Denomme, Anne-Sophie; Faivre, Laurence; Feger, Claire; Fradin, Melanie; Francannet, Christine; Genevieve, David; Goldenberg, Alice; Guerrot, Anne-Marie; Isidor, Bertrand; Johannesen, Katrine M.; Keren, Boris; Kibaek, Maria; Kuentz, Paul; Mathieu-Dramard, Michele; Demeer, Benedicte; Metreau, Julia; Steensbjerre Moller, Rikke; Moutton, Sebastien; Pasquier, Laurent; Pilekaer Sorensen, Kristina; Perrin, Laurence; Renaud, Mathilde; Saugier, Pascale; Rio, Marlene; Svane, Joane; Thevenon, Julien; Tran Mau Them, Frederic; Tronhjem, Cathrine Elisabeth; Vitobello, Antonio; Layet, Valerie; Auvin, Stephane; Khachnaoui, Khaoula; Birling, Marie-Christine; Drunat, Severine; Bayat, Allan; Dubourg, Christele; El Chehadeh, Salima; Fagerberg, Christina; Mignot, Cyril; Guipponi, Michel; Bienvenu, Thierry; Herault, Yann; Thompson, Julie; Willems, Marjolaine; Mandel, Jean-Louis; Weksberg, Rosanna; Piton, Amelie
Academic Journal
Doummar, Diane; Dentel, Christel; Lyautey, Romane; Metreau, Julia; Keren, Boris; Drouot, Nathalie; Malherbe, Ludivine; Bouilleret, Viviane; Courraud, Jérémie; Valenti-Hirsch, Maria Paola; Minotti, Lorella; Dozieres-Puyravel, Blandine; Bär, Séverine; Scholly, Julia; Schaefer, Elise; Nava, Caroline; Wirth, Thomas; Nasser, Hala; de Salins, Marie; de Saint Martin, Anne; Warde, Marie Thérèse Abi; Kahane, Philippe; Hirsch, Edouard; Anheim, Mathieu; Friant, Sylvie; Chelly, Jamel; Mignot, Cyril; Rudolf, Gabrielle
European Journal of Human Genetics. 28(10):1403-1413
Academic Journal
Létard, Pascaline; Drunat, Séverine; Vial, Yoann; Duerinckx, Sarah; Ernault, Anais; Amram, Daniel; Arpin, Stéphanie; Bertoli, Marta; Busa, Tiffany; Ceulemans, Berten; Desir, Julie; Doco‐Fenzy, Martine; Elalaoui, Siham Chafai; Devriendt, Koenraad; Faivre, Laurence; Francannet, Christine; Geneviève, David; Gérard, Marion; Gitiaux, Cyril; Julia, Sophie; Lebon, Sébastien; Lubala, Toni; Mathieu‐Dramard, Michèle; Maurey, Hélène; Metreau, Julia; Nasserereddine, Sanaa; Nizon, Mathilde; Pierquin, Geneviève; Pouvreau, Nathalie; Rivier‐Ringenbach, Clothilde; Rossi, Massimiliano; Schaefer, Elise; Sefiani, Abdelaziz; Sigaudy, Sabine; Sznajer, Yves; Tunca, Yusuf; Guilmin Crepon, Sophie; Alberti, Corinne; Elmaleh‐Bergès, Monique; Benzacken, Brigitte; Wollnick, Bernd; Woods, C. Geoffrey; Rauch, Anita; Abramowicz, Marc; El Ghouzzi, Vincent; Gressens, Pierre; Verloes, Alain; Passemard, Sandrine
Human Mutation. Mar 01, 2018 39(3):319-332
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[AR] Métreau, Julia
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