학술논문
'학술논문'
에서 검색결과 34건 | 목록
1~10
Academic Journal
Hadouiri, Nawale; Darmency, Veronique; Guibaud, Laurent; Arzimanoglou, Alexis; Sorlin, Arthur; Carmignac, Virginie; Rivière, Jean-Baptiste; Huet, Frédéric; Luu, Maxime; Bardou, Marc; Thauvin-Robinet, Christel; Vabres, Pierre; Faivre, Laurence
In European Journal of Medical Genetics November 2020 63(11)
Academic Journal
Malbos, Marlène; Wakeling, Emma; Gautier, Thierry; Boespflug‐Tanguy, Odile; Busby, Louise; Taylor‐Miller, Tashunka; Dudoignon, Benjamin; Bokov, Plamen; Govin, Jérôme; Grisval, Margot; Rega, Adélaïde; Mourot De Rougemont, Marie‐Gabrielle; Aubriot‐Lorton, Marie‐Hélène; Darmency, Véronique; Bensignor, Candace; Houzel, Anne; Huet, Frédéric; Denommé‐Pichon, Anne‐Sophie; Delanne, Julian; Tran Mau‐Them, Frédéric
Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene
Academic Journal
Malbos, Marlene; Wakeling, Emma; Gautier, Thierry; Boespflug-Tanguy, Odile; Busby, Louise; Taylor-Miller, Tashunka; Dudoignon, Benjamin; Bokov, Plamen; Govin, Jerome; Grisval, Margot; Rega, Adelaide; De Rougemont, Marie-Gabrielle Mourot; Aubriot-Lorton, Marie-Helene; Darmency, Veronique; Bensignor, Candace; Houzel, Anne; Huet, Frederic; Denomme-Pichon, Anne-Sophie; Delanne, Julian; Mau-Them, Frederic Tran; Bruel, Ange-Line; Safraou, Hana; Nambot, Sophie; Garde, Aurore; Philippe, Christophe; Duffourd, Yannis; Vitobello, Antonio; Faivre, Laurence; Thauvin-Robinet, Christel
Academic Journal
Mazel, Benoit; Mallet, Delphine; Roucher‐Boulez, Florence; Signor, Candace Ben; Bournez, Marie; Darmency, Véronique; Bourgeois, Valentin; Poe, Charlotte; El Khabbaz, Fares; Vitobello, Antonio; Philippe, Christophe; Duffourd, Yannis; Thauvin‐Robinet, Christel; Faivre, Laurence; Nambot, Sophie
American Journal of Medical Genetics. Part A; Dec2022, Vol. 188 Issue 12, p3540-3545, 6p
Periodical
Carmignac, Virginie; Mignot, Cyril; Blanchard, Emmanuelle; Kuentz, Paul; Aubriot-Lorton, Marie-Hélène; Parker, Victoria E.R.; Sorlin, Arthur; Fraitag, Sylvie; Courcet, Jean-Benoît; Duffourd, Yannis; Rodriguez, Diana; Knox, Rachel G.; Polubothu, Satyamaanasa; Boland, Anne; Olaso, Robert; Delepine, Marc; Darmency, Véronique; Riachi, Melissa; Quelin, Chloé; Rollier, Paul; Goujon, Louise; Grotto, Sarah; Capri, Yline; Jacquemont, Marie-Line; Odent, Sylvie; Amram, Daniel; Chevarin, Martin; Vincent-Delorme, Catherine; Catteau, Benoît; Guibaud, Laurent; Arzimanoglou, Alexis; Keddar, Malika; Sarret, Catherine; Callier, Patrick; Bessis, Didier; Geneviève, David; Deleuze, Jean-François; Thauvin, Christel; Semple, Robert K.; Philippe, Christophe; Rivière, Jean-Baptiste; Kinsler, Veronica A.; Faivre, Laurence; Vabres, Pierre
Genetics in Medicine; August 2021, Vol. 23 Issue: 8 p1484-1491, 8p
Academic Journal
Viora-Dupont, Eleonore; Delanne, Julian; Garde, Aurore; Nambot, Sophie; Colin, Estelle; Bournez, Marie; Fauconnier-Fatus, Clemence; Bernard, Celine; Espitalier, Aurelie; Binquet, Christine; Bouctot, Marion; Humbert, Marie-Laure; Briffaut, Anne-Sophie; Darmency, Veronique; Plumet, Patricia; Relin, Noemie; Callier, Patrick; Mosca-Boidron, Anne-Laure; Marle, Nathalie; Them, Frederic Tran Mau; Denomme-Pichon, Anne-Sophie; Safraou, Hana; Vitobello, Antonio; Bruel, Ange-Line; Philippe, Christophe; Thauvin-Robinet, Christel; Faivre, Laurence
Academic Journal
Assoum, Mirna; Lines, Matthew A.; Elpeleg, Orly; Darmency, Véronique; Whiting, Sharon; Edvardson, Simon; Devinsky, Orrin; Heinzen, Erin; Hernan, Rebecca Rose; Antignac, Corinne; Deleuze, Jean‐François; Des Portes, Vincent; Bertholet‐Thomas, Aurélie; Belot, Alexandre; Geller, Eric; Lemesle, Martine; Duffourd, Yannis; Thauvin‐Robinet, Christel; Thevenon, Julien; Chung, Wendy
American Journal of Medical Genetics. Part A; Nov2018, Vol. 176 Issue 11, p2470-2478, 9p
Academic Journal
Delanne, Julian; Bruel, Ange-Line; Huet, Frederic; Moutton, Sebastien; Nambot, Sophie; Grisval, Margot; Houcinat, Nada; Kuentz, Paul; Sorlin, Arthur; Callier, Patrick; Jean-Marcais, Nolwenn; Mosca-Boidron, Anne-Laure; Mau-Them, Frederic Tran; Denomme-Pichon, Anne-Sophie; Vitobello, Antonio; Lehalle, Daphne; El Chehadeh, Salima; Francannet, Christine; Lebrun, Marine; Lambert, Laetitia; Jacquemont, Marie-Line; Gerard-Blanluet, Marion; Alessandri, Jean-Luc; Willems, Marjolaine; Thevenon, Julien; Chouchane, Mondher; Darmency, Veronique; Fatus-Fauconnier, Clemence; Gay, Sebastien; Bournez, Marie; Masurel, Alice; Leguy, Vanessa; Duffourd, Yannis; Philippe, Christophe; Feillet, Francois; Faivre, Laurence; Thauvin-Robinet, Christel
Academic Journal
Hadouiri, Nawale; Thomas, Quentin; Darmency, Véronique; Dulieu, Véronique; De Rougemont, Marie‐Gabrielle Mourot; Bruel, Ange‐Line; Duffourd, Yannis; Lecoquierre, François; Colomb, Benoit; Perez‐Martin, Stéphanie; Ornetti, Paul; Blanchard, Olivier; Sorlin, Arthur; Philippe, Christophe; Faivre, Laurence; Vitobello, Antonio; Thauvin‐Robinet, Christel
Academic Journal
Baldassari, Sara; Picard, Fabienne; Verbeek, Nienke E.; van Kempen, Marjan; Brilstra, Eva H.; Lesca, Gaetan; Conti, Valerio; Guerrini, Renzo; Bisulli, Francesca; Licchetta, Laura; Pippucci, Tommaso; Tinuper, Paolo; Hirsch, Edouard; de Saint Martin, Anne; Chelly, Jamel; Rudolf, Gabrielle; Chipaux, Mathilde; Ferrand-Sorbets, Sarah; Dorfmüller, Georg; Sisodiya, Sanjay; Balestrini, Simona; Schoeler, Natasha; Hernandez-Hernandez, Laura; Krithika, S.; Oegema, Renske; Hagebeuk, Eveline; Gunning, Boudewijn; Deckers, Charles; Berghuis, Bianca; Wegner, Ilse; Niks, Erik; Jansen, Floor E.; Braun, Kees; de Jong, Daniëlle; Rubboli, Guido; Talvik, Inga; Sander, Valentin; Uldall, Peter; Jacquemont, Marie-Line; Nava, Caroline; Leguern, Eric; Julia, Sophie; Gambardella, Antonio; d’Orsi, Giuseppe; Crichiutti, Giovanni; Faivre, Laurence; Darmency, Veronique; Benova, Barbora; Krsek, Pavel; Biraben, Arnaud; Lebre, Anne-Sophie; Jennesson, Mélanie; Sattar, Shifteh; Marchal, Cécile; Nordli, Jr, Douglas R; Lindstrom, Kristin; Striano, Pasquale; Lomax, Lysa Boissé; Kiss, Courtney; Bartolomei, Fabrice; Lepine, Anne Fabienne; Schoonjans, An-Sofie; Stouffs, Katrien; Jansen, Anna; Panagiotakaki, Eleni; Ricard-Mousnier, Brigitte; Thevenon, Julien; de Bellescize, Julitta; Catenoix, Hélène; Dorn, Thomas; Zenker, Martin; Müller-Schlüter, Karen; Brandt, Christian; Krey, Ilona; Polster, Tilman; Wolff, Markus; Balci, Meral; Rostasy, Kevin; Achaz, Guillaume; Zacher, Pia; Becher, Thomas; Cloppenborg, Thomas; Yuskaitis, Christopher J.; Weckhuysen, Sarah; Poduri, Annapurna; Lemke, Johannes R.; Møller, Rikke S.; Baulac, Stéphanie
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 21(2):398-408
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[AR] Darmency, Véronique
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