71 results for Rötig,+Agnès

71 results for Rötig,+Agnès

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    Author / Creator:Fragaki, Konstantina ; Ait-El-Mkadem, Samira ; Chaussenot, Annabelle ; Gire, Catherine ; Mengual, Raymond ; Bonesso, Laurent ; Bénéteau, Marie ; Ricci, Jean-Ehrland ; Desquiret-Dumas, Valérie ; Procaccio, Vincent ; Rötig, Agnès ; Paquis-Flucklinger, Véronique
    Publisher:England: Nature Publishing Group
    Journal title:European journal of human genetics : EJHG, 2013-05, Vol.21 (5), p.528-534
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    Author / Creator:Pontoizeau, Clément ; Simon-Sola, Marcelo ; Gaborit, Clovis ; Nguyen, Vincent ; Rotaru, Irina ; Tual, Nolan ; Colella, Pasqualina ; Girard, Muriel ; Biferi, Maria-Grazia ; Arnoux, Jean-Baptiste ; Rötig, Agnès ; Ottolenghi, Chris ; de Lonlay, Pascale ; Mingozzi, Federico ; Cavazzana, Marina ; Schiff, Manuel
    Publisher:London: Nature Publishing Group UK
    Journal title:Nature communications, 2022-06, Vol.13 (1), p.3278-3278, Article 3278
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    Author / Creator:Bourdon, Alice ; Minai, Limor ; Serre, Valérie ; Jais, Jean-Philippe ; Sarzi, Emmanuelle ; Aubert, Sophie ; Chrétien, Dominique ; de Lonlay, Pascale ; Paquis-Flucklinger, Véronique ; Arakawa, Hirofumi ; Nakamura, Yusuke ; Munnich, Arnold ; Rötig, Agnès
    Publisher:New York: Nature Publishing Group US
    Journal title:Nature genetics, 2007-06, Vol.39 (6), p.776-780
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    Author / Creator:Yépez, Vicente A. ; Gusic, Mirjana ; Kopajtich, Robert ; Mertes, Christian ; Smith, Nicholas H. ; Alston, Charlotte L. ; Ban, Rui ; Beblo, Skadi ; Berutti, Riccardo ; Blessing, Holger ; Ciara, Elżbieta ; Distelmaier, Felix ; Freisinger, Peter ; Häberle, Johannes ; Hayflick, Susan J. ; Hempel, Maja ; Itkis, Yulia S. ; Kishita, Yoshihito ; Klopstock, Thomas ; Krylova, Tatiana D. ; Lamperti, Costanza ; Lenz, Dominic ; Makowski, Christine ; Mosegaard, Signe ; Müller, Michaela F. ; Muñoz-Pujol, Gerard ; Nadel, Agnieszka ; Ohtake, Akira ; Okazaki, Yasushi ; Procopio, Elena ; Schwarzmayr, Thomas ; Smet, Joél ; Staufner, Christian ; Stenton, Sarah L. ; Strom, Tim M. ; Terrile, Caterina ; Tort, Frederic ; Van Coster, Rudy ; Vanlander, Arnaud ; Wagner, Matias ; Xu, Manting ; Fang, Fang ; Ghezzi, Daniele ; Mayr, Johannes A. ; Piekutowska-Abramczuk, Dorota ; Ribes, Antonia ; Rötig, Agnès ; Taylor, Robert W. ; Wortmann, Saskia B. ; Murayama, Kei ; Meitinger, Thomas ; Gagneur, Julien ; Prokisch, Holger
    Publisher:England: BioMed Central Ltd
    Journal title:Genome medicine, 2022-04, Vol.14 (1), p.38-38, Article 38
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    Author / Creator:Mollet, Julie ; Giurgea, Irina ; Schlemmer, Dimitri ; Dallner, Gustav ; Chretien, Dominique ; Delahodde, Agnès ; Bacq, Delphine ; de Lonlay, Pascale ; Munnich, Arnold ; Rötig, Agnès
    Publisher:United States: American Society for Clinical Investigation
    Journal title:The Journal of clinical investigation, 2007-03, Vol.117 (3), p.765-772
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    Author / Creator:Lasserre, Jean-Paul ; Dautant, Alain ; Aiyar, Raeka S. ; Kucharczyk, Roza ; Glatigny, Annie ; Tribouillard-Tanvier, Déborah ; Rytka, Joanna ; Blondel, Marc ; Skoczen, Natalia ; Reynier, Pascal ; Pitayu, Laras ; Rötig, Agnès ; Delahodde, Agnès ; Steinmetz, Lars M. ; Dujardin, Geneviève ; Procaccio, Vincent ; di Rago, Jean-Paul
    Publisher:England: The Company of Biologists Ltd
    Journal title:Disease models & mechanisms, 2015-06, Vol.8 (6), p.509-526
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    Author / Creator:Cafournet, Cérane ; Zanin, Sofia ; Guimier, Anne ; Hully, Marie ; Assouline, Zahra ; Barcia, Giulia ; de Lonlay, Pascale ; Steffann, Julie ; Munnich, Arnold ; Bonnefont, Jean-Paul ; Rötig, Agnès ; Ruzzenente, Benedetta ; Metodiev, Metodi D.
    Publisher:Switzerland: MDPI AG
    Journal title:Life (Basel, Switzerland), 2023-02, Vol.13 (2), p.445
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    Author / Creator:Bénit, Paule ; Beugnot, Réjane ; Chretien, Dominique ; Giurgea, Irina ; De Lonlay-Debeney, Pascale ; Issartel, Jean-Paul ; Corral-Debrinski, Marisol ; Kerscher, Stefan ; Rustin, Pierre ; Rötig, Agnès ; Munnich, Arnold
    Publisher:New York: Wiley Subscription Services, Inc., A Wiley Company
    Journal title:Human mutation, 2003-06, Vol.21 (6), p.582-586
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    Author / Creator:Elouej, Sahar ; Harhouri, Karim ; Le Mao, Morgane ; Baujat, Genevieve ; Nampoothiri, Sheela ; Kayserili, Hϋlya ; Menabawy, Nihal Al ; Selim, Laila ; Paneque, Arianne Llamos ; Kubisch, Christian ; Lessel, Davor ; Rubinsztajn, Robert ; Charar, Chayki ; Bartoli, Catherine ; Airault, Coraline ; Deleuze, Jean-François ; Rötig, Agnes ; Bauer, Peter ; Pereira, Catarina ; Loh, Abigail ; Escande-Beillard, Nathalie ; Muchir, Antoine ; Martino, Lisa ; Gruenbaum, Yosef ; Lee, Song-Hua ; Manivet, Philippe ; Lenaers, Guy ; Reversade, Bruno ; Lévy, Nicolas ; De Sandre-Giovannoli, Annachiara
    Publisher:London: Nature Publishing Group UK
    Journal title:Nature communications, 2020-09, Vol.11 (1), p.4589-4589, Article 4589
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    Author / Creator:Elouej, Sahar ; Harhouri, Karim ; Mao, Morgane Le ; Baujat, Genevieve ; Nampoothiri, Sheela ; Kayserili, Hϋlya ; Menabawy, Nihal Al ; Selim, Laila ; Paneque, Arianne Llamos ; Kubisch, Christian ; Lessel, Davor ; Rubinsztajn, Robert ; Charar, Chayki ; Bartoli, Catherine ; Airault, Coraline ; Deleuze, Jean-François ; Rötig, Agnes ; Bauer, Peter ; Pereira, Catarina ; Loh, Abigail ; Escande-Beillard, Nathalie ; Muchir, Antoine ; Martino, Lisa ; Gruenbaum, Yosef ; Lee, Song-Hua ; Manivet, Philippe ; Lenaers, Guy ; Reversade, Bruno ; Lévy, Nicolas ; De Sandre-Giovannoli, Annachiara
    Publisher:London: Nature Publishing Group UK
    Journal title:Nature communications, 2020-10, Vol.11 (1), p.5349-5349, Article 5349
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    Author / Creator:Dhir, Ashish ; Dhir, Somdutta ; Borowski, Lukasz S. ; Jimenez, Laura ; Teitell, Michael ; Rötig, Agnès ; Crow, Yanick J. ; Rice, Gillian I. ; Duffy, Darragh ; Tamby, Christelle ; Nojima, Takayuki ; Munnich, Arnold ; Schiff, Manuel ; de Almeida, Claudia Ribeiro ; Rehwinkel, Jan ; Dziembowski, Andrzej ; Szczesny, Roman J. ; Proudfoot, Nicholas J.
    Publisher:London: Nature Publishing Group UK
    Journal title:Nature (London), 2018-08, Vol.560 (7717), p.238-242
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    Author / Creator:Metodiev, Metodi Dimitrov ; Gerber, Sylvie ; Hubert, Laurence ; Delahodde, Agnès ; Chretien, Dominique ; Gérard, Xavier ; Amati-Bonneau, Patrizia ; Giacomotto, Marie-Christine ; Boddaert, Nathalie ; Kaminska, Anna ; Desguerre, Isabelle ; Amiel, Jeanne ; Rio, Marlène ; Kaplan, Josseline ; Munnich, Arnold ; Rötig, Agnès ; Rozet, Jean Michel ; Besmond, Claude
    Publisher:England: BMJ Publishing Group LTD
    Journal title:Journal of medical genetics, 2014-12, Vol.51 (12), p.834-838
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    Author / Creator:Durrant, Christelle ; Fuehring, Jana I. ; Willemetz, Alexandra ; Chrétien, Dominique ; Sala, Giusy ; Ghidoni, Riccardo ; Katz, Abram ; Rötig, Agnès ; Thelestam, Monica ; Ermonval, Myriam ; Moore, Stuart E. H.
    Publisher:Switzerland: MDPI AG
    Journal title:International journal of molecular sciences, 2020-03, Vol.21 (6), p.2028
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    Author / Creator:Rustin, Pierre ; Munnich, Arnold ; Rötig, Agnès
    Publisher:England: Nature Publishing Group
    Journal title:European journal of human genetics : EJHG, 2002-05, Vol.10 (5), p.289-291
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    Author / Creator:Bannwarth, Sylvie ; Procaccio, Vincent ; Lebre, Anne Sophie ; Jardel, Claude ; Chaussenot, Annabelle ; Hoarau, Claire ; Maoulida, Hassani ; Charrier, Nathanaël ; Gai, Xiaowu ; Xie, Hongbo M ; Ferre, Marc ; Fragaki, Konstantina ; Hardy, Gaëlle ; Mousson de Camaret, Bénédicte ; Marlin, Sandrine ; Dhaenens, Claire Marie ; Slama, Abdelhamid ; Rocher, Christophe ; Paul Bonnefont, Jean ; Rötig, Agnès ; Aoutil, Nadia ; Gilleron, Mylène ; Desquiret-Dumas, Valérie ; Reynier, Pascal ; Ceresuela, Jennifer ; Jonard, Laurence ; Devos, Aurore ; Espil-Taris, Caroline ; Martinez, Delphine ; Gaignard, Pauline ; Le Quan Sang, Kim-Hanh ; Amati-Bonneau, Patrizia ; Falk, Marni J ; Florentz, Catherine ; Chabrol, Brigitte ; Durand-Zaleski, Isabelle ; Paquis-Flucklinger, Véronique
    Publisher:England: BMJ Publishing Group Ltd
    Journal title:Journal of medical genetics, 2013-10, Vol.50 (10), p.704-714
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    Author / Creator:Mignot, Cyril ; Apartis, Emmanuelle ; Durr, Alexandra ; Marques Lourenço, Charles ; Charles, Perrine ; Devos, David ; Moreau, Caroline ; de Lonlay, Pascale ; Drouot, Nathalie ; Burglen, Lydie ; Kempf, Nadine ; Nourisson, Elsa ; Chantot-Bastaraud, Sandra ; Lebre, Anne-Sophie ; Rio, Marlène ; Chaix, Yves ; Bieth, Eric ; Roze, Emmanuel ; Bonnet, Isabelle ; Canaple, Sandrine ; Rastel, Coralie ; Brice, Alexis ; Rötig, Agnès ; Desguerre, Isabelle ; Tranchant, Christine ; Koenig, Michel ; Anheim, Mathieu
    Publisher:England: BioMed Central Ltd
    Journal title:Orphanet journal of rare diseases, 2013-10, Vol.8 (1), p.173-173, Article 173
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    Author / Creator:Steffann, Julie ; Monnot, Sophie ; Magen, Maryse ; Assouline, Zahra ; Gigarel, Nadine ; Ville, Yves ; Salomon, Laurent ; Bessiere, Bettina ; Martinovic, Jelena ; Rötig, Agnès ; Bengoa, Joana ; Borghèse, Roxana ; Munnich, Arnold ; Barcia, Giulia ; Bonnefont, Jean-Paul
    Publisher:New York: Elsevier Inc
    Journal title:Genetics in medicine, 2021-04, Vol.23 (4), p.720-731
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    Author / Creator:Barcia, Giulia ; Rio, Marlène ; Assouline, Zahra ; Zangarelli, Coralie ; Roux, Charles-Joris ; de Lonlay, Pascale ; Steffann, Julie ; Desguerre, Isabelle ; Munnich, Arnold ; Bonnefont, Jean-Paul ; Boddaert, Nathalie ; Rötig, Agnès ; Metodiev, Metodi D. ; Ruzzenente, Benedetta
    Publisher:England: Nature Publishing Group
    Journal title:European journal of human genetics : EJHG, 2021-03, Vol.29 (3), p.533-538
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    Author / Creator:Heeringa, Saskia F. ; Chernin, Gil ; Chaki, Moumita ; Zhou, Weibin ; Sloan, Alexis J. ; Ji, Ziming ; Xie, Letian X. ; Salviati, Leonardo ; Hurd, Toby W. ; Vega-Warner, Virginia ; Killen, Paul D. ; Raphael, Yehoash ; Ashraf, Shazia ; Ovunc, Bugsu ; Schoeb, Dominik S. ; McLaughlin, Heather M. ; Airik, Rannar ; Vlangos, Christopher N. ; Gbadegesin, Rasheed ; Hinkes, Bernward ; Saisawat, Pawaree ; Trevisson, Eva ; Doimo, Mara ; Casarin, Alberto ; Pertegato, Vanessa ; Giorgi, Gianpietro ; Prokisch, Holger ; Rötig, Agnès ; Nürnberg, Gudrun ; Becker, Christian ; Wang, Su ; Ozaltin, Fatih ; Topaloglu, Rezan ; Bakkaloglu, Aysin ; Bakkaloglu, Sevcan A. ; Müller, Dominik ; Beissert, Antje ; Mir, Sevgi ; Berdeli, Afig ; ϖzen, Seza ; Zenker, Martin ; Matejas, Verena ; Santos-Ocaña, Carlos ; Navas, Placido ; Kusakabe, Takehiro ; Kispert, Andreas ; Akman, Sema ; Soliman, Neveen A. ; Krick, Stefanie ; Mundel, Peter ; Reiser, Jochen ; Nürnberg, Peter ; Clarke, Catherine F. ; Wiggins, Roger C. ; Faul, Christian ; Hildebrandt, Friedhelm
    Publisher:United States: American Society for Clinical Investigation
    Journal title:The Journal of clinical investigation, 2011-05, Vol.121 (5), p.2013-2024
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    Author / Creator:Spinazzola, Antonella ; Viscomi, Carlo ; Fernandez-Vizarra, Erika ; Carrara, Franco ; D'Adamo, Pio ; Calvo, Sarah ; Marsano, René Massimiliano ; Donnini, Claudia ; Weiher, Hans ; Strisciuglio, Pietro ; Parini, Rossella ; Sarzi, Emmanuelle ; Chan, Alicia ; DiMauro, Salvatore ; Rötig, Agnes ; Gasparini, Paolo ; Ferrero, Iliana ; Mootha, Vamsi K ; Tiranti, Valeria ; Zeviani, Massimo
    Publisher:New York: Nature Publishing Group US
    Journal title:Nature genetics, 2006-05, Vol.38 (5), p.570-575
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