학술논문
'학술논문'
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1~10
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
Massier, Marie; Doco-Fenzy, Martine; Egloff, Matthieu; Le Guillou, Xavier; Le Guyader, Gwenael; Redon, Sylvia; Benech, Caroline; Le Millier, Karine; Uguen, Kevin; Ropars, Juliette; Sacaze, Elise; Audebert-Bellanger, Severine; Apetrei, Andreea; Molin, Arnaud; Gruchy, Nicolas; Vincent-Devulder, Aline; Spodenkiewicz, Marta; Jacquin, Clemence; Loron, Gauthier; Thibaud, Marie; Delplancq, Geoffroy; Brisset, Sophie; Lesieur-Sebellin, Marion; Malan, Valerie; Romana, Serge; Rio, Marlene; Marlin, Sandrine; Amiel, Jeanne; Marquet, Valentine; Dauriat, Benjamin; Moradkhani, Kamran; Mercier, Sandra; Isidor, Bertrand; Arpin, Stephanie; Pujalte, Mathilde; Jedraszak, Guillaume; Pebrel-Richard, Celine; Salaun, Gaelle; Laffargue, Fanny; Boudjarane, John; Missirian, Chantal; Chelloug, Nora; Toutain, Annick; Chiesa, Jean; Keren, Boris; Mignot, Cyril; Gouy, Evan; Jaillard, Sylvie; Landais, Emilie; Poirsier, Celine
Academic Journal
Jacquin, Clemence; Landais, Emilie; Poirsier, Celine; Afenjar, Alexandra; Akhavi, Ahmad; Bednarek, Nathalie; Benech, Caroline; Bonnard, Adeline; Bosquet, Damien; Burglen, Lydie; Callier, Patrick; Chantot-Bastaraud, Sandra; Coubes, Christine; Coutton, Charles; Delobel, Bruno; Descharmes, Margaux; Dupont, Jean-Michel; Gatinois, Vincent; Gruchy, Nicolas; Guterman, Sarah; Heddar, Abdelkader; Herissant, Lucas; Heron, Delphine; Isidor, Bertrand; Jaeger, Pauline; Jouret, Guillaume; Keren, Boris; Kuentz, Paul; Le Caignec, Cedric; Levy, Jonathan; Lopez, Nathalie; Manssens, Zoe; Martin-Coignard, Dominique; Marey, Isabelle; Mignot, Cyril; Missirian, Chantal; Pebrel-Richard, Celine; Pinson, Lucile; Puechberty, Jacques; Redon, Sylvia; Sanlaville, Damien; Spodenkiewicz, Marta; Tabet, Anne-Claude; Verloes, Alain; Vieville, Gaelle; Yardin, Catherine; Vialard, Francois; Doco-Fenzy, Martine
Academic Journal
Le Collen, Lauriane; Delemer, Brigitte; Spodenkiewicz, Marta; Cornillet Lefebvre, Pascale; Durand, Emmanuelle; Vaillant, Emmanuel; Badreddine, Alaa; Derhourhi, Mehdi; Mouhoub, Tarik Ait; Jouret, Guillaume; Juttet, Pauline; Souchon, Pierre François; Vaxillaire, Martine; Froguel, Philippe; Bonnefond, Amélie; Doco Fenzy, Martine
Orphanet Journal of Rare Diseases. February 28, 2022, Vol. 17 Issue 1
Academic Journal
Jouret, Guillaume; Egloff, Matthieu; Landais, Emilie; Tassy, Olivier; Giuliano, Fabienne; Karmous-Benailly, Houda; Coutton, Charles; Satre, Veronique; Devillard, Francoise; Dieterich, Klaus; Vieville, Gaelle; Kuentz, Paul; le Caignec, Cedric; Beneteau, Claire; Isidor, Bertrand; Nizon, Mathilde; Callier, Patrick; Marquet, Valentine; Bieth, Eric; Levy, Jonathan; Tabet, Anne-Claude; Lyonnet, Stanislas; Baujat, Genevieve; Rio, Marlene; Cartault, Francois; Scheidecker, Sophie; Gouronc, Aurelie; Schalk, Audrey; Jacquin, Clemence; Spodenkiewicz, Marta; Angelini, Chloe; Pennamen, Perrine; Rooryck, Caroline; Doco-Fenzy, Martine; Poirsier, Celine
Academic Journal
Messiaen, Claude; Racine, Caroline; Khatim, Ahlem; Soussand, Louis; Odent, Sylvie; Lacombe, Didier; Manouvrier, Sylvie; Edery, Patrick; Sigaudy, Sabine; Geneviève, David; Thauvin-Robinet, Christel; Pasquier, Laurent; Petit, Florence; Rossi, Massimiliano; Willems, Marjolaine; Attié-Bitach, Tania; Roux-Levy, Pierre-Henry; Demougeot, Laurent; Slama, Lilia Ben; Landais, Paul; Leheup, Bruno; Doco-Fenzy, Martine; Poirsier, Céline; Spodenkiewicz, Marta; Lissy, Lola; Lannoy, Audrey; Shaefer, Elise; Chehadeh, Salima El; Amiel, Jeanne; Mignot, Cyril; Melki, Judith; Whalen, Sandra; Lackmy, Marilyn Irène; Funalot, Benoit; Morin, Gilles; Gérard, Marion; Gruchy, Nicolas; Molin, Arnaud; Toutain, Annick; Arpin, Stéphanie; Blesson, Sophie; Jeanne, Médéric; Isidor, Bertrand; Vincent, Marie; Nizon, Mathilde; Mercier, Sandra; Bonneau, Dominique; Colin, Estelle; Ziegler, Alban; Audebert-Bellanger, Séverine; Stoeva, Radka; Demurger, Florence; Thevenon, Julien; Francannet, Christine; Troude, Baptiste; Perthus, Isabelle; Haye, Damien; Collignon, Patrick; Gilbert-Dussardier, Brigitte; Bilan, Frédéric; Egloff, Mattieu; Le Guyader, Gwenaël; Letard, Pascaline; Sarrazin, Elisabeth; Giguet-Valard, Anna-Gaëlle; Damaj, Léna; Fradin, Mélanie; Lavillaureix, Alinoe; Jean-Marçais, Nolwenn; Morel, Godelieve; Quelin, Chloé; Naudion, Sophie; Legendre, Marine; Van-Gils, Julien; Rooryck-Thambo, Caroline; Boute, Odile; Dieux, Anne; Vincent-Delorme, Catherine; Ghoumid, Jamal; Vanlerberghe, Clémence; Caumes, Roseline; Colson, Cindy; Marsili, Luisa; Wyrebski, Antoine; Bellengier, Laurence; Houdayer, Françoise; Putoux, Audrey; Busa, Tiffany; Riccardi, Florence; Missirian, Chantal; Blanchet, Patricia; Coubes, Christine; Haquet, Emmanuelle; Pinson, Lucile; Puechberty, Jacques; Wells, Constance; Capri, Yline; Perrin, Laurence; Passemard, Sandrine; Ruand, Lyse; Nambot, Sophie; Delanne, Julian; Moutton, Sébastien; Sorlin, Arthur; Lehalle, Daphné; Garde, Aurore
Orphanet Journal of Rare Diseases. August 4, 2021, Vol. 16 Issue 1
Academic Journal
Toquet, Ségolène; Spodenkiewicz, Marta; Douillard, Claire; Maillot, François; Arnoux, Jean‐Baptiste; Damaj, Lena; Odent, Sylvie; Moreau, Caroline; Redonnet‐Vernhet, Isabelle; Mesli, Samir; Servais, Aude; Noel, Esther; Charriere, Sybill; Rigalleau, Vincent; Lavigne, Christian; Kaphan, Elsa; Roubertie, Agathe; Besson, Gérard; Bigot, Adrien; Servettaz, Amélie
Journal of Inherited Metabolic Disease; Sep2021, Vol. 44 Issue 5, p1199-1214, 16p
Academic Journal
Le Collen, Lauriane; Barraud, Sara; Braconnier, Antoine; Coppin, Lucie; Zachar, Dominique; Boulagnon, Camille; Deguelte, Sophie; Souchon, Pierre François; Spodenkiewicz, Marta; Poirsier, Céline; Aubert, Sébastien; Odou, Marie Françoise; Delemer, Brigitte
Endocrine (1355008X); Sep2021, Vol. 73 Issue 3, p693-701, 9p
Periodical
Tebani, Abdellah; Sudrié-Arnaud, Bénédicte; Dabaj, Ivana; Torre, Stéphanie; Domitille, Laur; Snanoudj, Sarah; Heron, Benedicte; Levade, Thierry; Caillaud, Catherine; Vergnaud, Sabrina; Saugier-Veber, Pascale; Coutant, Sophie; Dranguet, Hélène; Froissart, Roseline; Al Khouri, Majed; Alembik, Yves; Baruteau, Julien; Arnoux, Jean-Baptiste; Brassier, Anais; Brehin, Anne-Claire; Busa, Tiffany; Cano, Aline; Chabrol, Brigitte; Coubes, Christine; Desguerre, Isabelle; Doco-Fenzy, Martine; Drenou, Bernard; Elcioglu, Nursel H; Elsayed, Solaf; Fouilhoux, Alain; Poirsier, Céline; Goldenberg, Alice; Jouvencel, Philippe; Kuster, Alice; Labarthe, Francois; Lazaro, Leila; Pichard, Samia; Rivera, Serge; Roche, Sandrine; Roggerone, Stéphanie; Roubertie, Agathe; Sigaudy, Sabine; Spodenkiewicz, Marta; Tardieu, Marine; Vanhulle, Catherine; Marret, Stéphane; Bekri, Soumeya
Journal of Medical Genetics (JMG); 2022, Vol. 59 Issue: 4 p377-384, 8p
Academic Journal
Beaudoux, Olivia; Lebre, Anne‐Sophie; Doco Fenzy, Martine; Spodenkiewicz, Marta; Canivet, Eric; Colosio, Charlotte; Poirsier, Céline
American Journal of Medical Genetics. Part A; Mar2021, Vol. 185 Issue 3, p937-944, 8p
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[AR] Spodenkiewicz, Marta
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