학술논문
'학술논문'
에서 검색결과 99건 | 목록
10~20
Academic Journal
Thomas, Quentin; Motta, Marialetizia; Gautier, Thierry; Zaki, Maha S.; Ciolfi, Andrea; Paccaud, Julien; Girodon, François; Boespflug-Tanguy, Odile; Besnard, Thomas; Kerkhof, Jennifer; McConkey, Haley; Masson, Aymeric; Denommé-Pichon, Anne-Sophie; Cogné, Benjamin; Trochu, Eva; Vignard, Virginie; El It, Fatima; Rodan, Lance H.; Alkhateeb, Mohammad Ayman; Jamra, Rami Abou; Duplomb, Laurence; Tisserant, Emilie; Duffourd, Yannis; Bruel, Ange-Line; Jackson, Adam; Banka, Siddharth; McEntagart, Meriel; Saggar, Anand; Gleeson, Joseph G.; Sievert, David; Bae, Hyunwoo; Lee, Beom Hee; Kwon, Kisang; Seo, Go Hun; Lee, Hane; Saeed, Anjum; Anjum, Nadeem; Cheema, Huma; Alawbathani, Salem; Khan, Imran; Pinto-Basto, Jorge; Teoh, Joyce; Wong, Jasmine; Sahari, Umar Bin Mohamad; Houlden, Henry; Zhelcheska, Kristina; Pannetier, Melanie; Awad, Mona A.; Lesieur-Sebellin, Marion; Barcia, Giulia; Amiel, Jeanne; Delanne, Julian; Philippe, Christophe; Faivre, Laurence; Odent, Sylvie; Bertoli-Avella, Aida; Thauvin, Christel; Sadikovic, Bekim; Reversade, Bruno; Maroofian, Reza; Govin, Jérôme; Tartaglia, Marco; Vitobello, Antonio
In The American Journal of Human Genetics 6 October 2022 109(10):1909-1922
Periodical
Husson, Thomas; Lecoquierre, François; Nicolas, Gaël; Richard, Anne-Claire; Afenjar, Alexandra; Audebert-Bellanger, Séverine; Badens, Catherine; Bilan, Frédéric; Bizaoui, Varoona; Boland, Anne; Bonnet-Dupeyron, Marie-Noëlle; Brischoux-Boucher, Elise; Bonnet, Céline; Bournez, Marie; Boute, Odile; Brunelle, Perrine; Caumes, Roseline; Charles, Perrine; Chassaing, Nicolas; Chatron, Nicolas; Cogné, Benjamin; Colin, Estelle; Cormier-Daire, Valérie; Dard, Rodolphe; Dauriat, Benjamin; Delanne, Julian; Deleuze, Jean-François; Demurger, Florence; Denommé-Pichon, Anne-Sophie; Depienne, Christel; Dieux, Anne; Dubourg, Christèle; Edery, Patrick; El Chehadeh, Salima; Faivre, Laurence; Fergelot, Patricia; Fradin, Mélanie; Garde, Aurore; Geneviève, David; Gilbert-Dussardier, Brigitte; Goizet, Cyril; Goldenberg, Alice; Gouy, Evan; Guerrot, Anne-Marie; Guimier, Anne; Harzalla, Inès; Héron, Delphine; Isidor, Bertrand; Lacombe, Didier; Le Guillou Horn, Xavier; Keren, Boris; Kuechler, Alma; Lacaze, Elodie; Lavillaureix, Alinoë; Lehalle, Daphné; Lesca, Gaëtan; Lespinasse, James; Levy, Jonathan; Lyonnet, Stanislas; Morel, Godeliève; Jean-Marçais, Nolwenn; Marlin, Sandrine; Marsili, Luisa; Mignot, Cyril; Nambot, Sophie; Nizon, Mathilde; Olaso, Robert; Pasquier, Laurent; Perrin, Laurine; Petit, Florence; Pingault, Veronique; Piton, Amélie; Prieur, Fabienne; Putoux, Audrey; Planes, Marc; Odent, Sylvie; Quélin, Chloé; Quemener-Redon, Sylvia; Rama, Mélanie; Rio, Marlène; Rossi, Massimiliano; Schaefer, Elise; Rondeau, Sophie; Saugier-Veber, Pascale; Smol, Thomas; Sigaudy, Sabine; Touraine, Renaud; Mau-Them, Frederic Tran; Trimouille, Aurélien; Van Gils, Julien; Vanlerberghe, Clémence; Vantalon, Valérie; Vera, Gabriella; Vincent, Marie; Ziegler, Alban; Guillin, Olivier; Campion, Dominique; Charbonnier, Camille
European Journal of Human Genetics: EJHG; February 2024, Vol. 32 Issue: 2 p190-199, 10p
Academic Journal
Thomas, Quentin; Vitobello, Antonio; Mau-Them, Frédéric Tran; Duffourd, Yannis; Fromont, Agnès; Giroud, Maurice; Daubail, Benoit; Jacquin-Piques, Agnès; Hervieu-Begue, Marie; Moreau, Thibault; Osseby, Guy-Victor; Garret, Philippine; Nambot, Sophie; Delanne, Julian; Bruel, Ange-Line; Sorlin, Arthur; Callier, Patrick; Denomme-Pichon, Anne-Sophie; Faivre, Laurence; Béjot, Yannick; Philippe, Christophe; Thauvin-Robinet, Christelle; Moutton, Sébastien
In Journal of the Neurological Sciences October 2021 429 Supplement
Academic Journal
Tran Mau-Them, Frédéric; Overs, Alexis; Bruel, Ange-Line; Duquet, Romain; Thareau, Mylene; Denommé-Pichon, Anne-Sophie; Vitobello, Antonio; Sorlin, Arthur; Safraou, Hana; Nambot, Sophie; Delanne, Julian; Moutton, Sebastien; Racine, Caroline; Engel, Camille; De Giraud d'Agay, Melchior; Lehalle, Daphne; Goldenberg, Alice; Willems, Marjolaine; Coubes, Christine; Genevieve, David
Frontiers in Genetics; 2023, p1-14, 14p
Academic Journal
Mau-Them, Frédéric Tran; Delanne, Julian; Denommé-Pichon, Anne-Sophie; Safraou, Hana; Bruel, Ange-Line; Vitobello, Antonio; Garde, Aurore; Nambot, Sophie; Bourgon, Nicolas; Racine, Caroline; Sorlin, Arthur; Moutton, Sébastien; Marle, Nathalie; Rousseau, Thierry; Sagot, Paul; Simon, Emmanuel; Vincent-Delorme, Catherine; Boute, Odile; Colson, Cindy; Petit, Florence
Frontiers in Genetics; 4/23/2023, Vol. 14, p1-14, 14p
Academic Journal
Mazel, Benoit; Delanne, Julian; Garde, Aurore; Racine, Caroline; Bruel, Ange-Line; Duffourd, Yannis; Lopergolo, Diego; Santorelli, Filippo Maria; Marchi, Viviana; Pinto, Anna Maria; Mencarelli, Maria Antonietta; Canitano, Roberto; Valentino, Floriana; Papa, Filomena Tiziana; Fallerini, Chiara; Mari, Francesca; Renieri, Alessandra; Munnich, Arnold; Niclass, Tanguy; Le Guyader, Gwenael; Thauvin-Robinet, Christel; Philippe, Christophe; Faivre, Laurence
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
Periodical
Aerden, Mio; Denommé-Pichon, Anne-Sophie; Bonneau, Dominique; Bruel, Ange-Line; Delanne, Julian; Gérard, Bénédicte; Mazel, Benoît; Philippe, Christophe; Pinson, Lucile; Prouteau, Clément; Putoux, Audrey; Tran Mau-Them, Frédéric; Viora-Dupont, Éléonore; Vitobello, Antonio; Ziegler, Alban; Piton, Amélie; Isidor, Bertrand; Francannet, Christine; Maillard, Pierre-Yves; Julia, Sophie; Philippe, Anais; Schaefer, Elise; Koene, Saskia; Ruivenkamp, Claudia; Hoffer, Mariette; Legius, Eric; Theunis, Miel; Keren, Boris; Buratti, Julien; Charles, Perrine; Courtin, Thomas; Misra-Isrie, Mala; van Haelst, Mieke; Waisfisz, Quinten; Wieczorek, Dagmar; Schmetz, Ariane; Herget, Theresia; Kortüm, Fanny; Lisfeld, Jasmin; Debray, François-Guillaume; Bramswig, Nuria C.; Atallah, Isis; Fodstad, Heidi; Jouret, Guillaume; Almoguera, Berta; Tahsin-Swafiri, Saoud; Santos-Simarro, Fernando; Palomares-Bralo, Maria; López-González, Vanesa; Kibaek, Maria; Tørring, Pernille M.; Renieri, Alessandra; Bruno, Lucia Pia; Õunap, Katrin; Wojcik, Monica; Hsieh, Tzung-Chien; Krawitz, Peter; Van Esch, Hilde
European Journal of Human Genetics: EJHG; April 2023, Vol. 31 Issue: 4 p461-468, 8p
Academic Journal
Husson, Thomas; Lecoquierre, Francois; Nicolas, Gael; Richard, Anne-Claire; Afenjar, Alexandra; Audebert-Bellanger, Severine; Badens, Catherine; Bilan, Frederic; Bizaoui, Varoona; Boland, Anne; Bonnet-Dupeyron, Marie-Noelle; Brischoux-Boucher, Elise; Bonnet, Celine; Bournez, Marie; Boute, Odile; Brunelle, Perrine; Caumes, Roseline; Charles, Perrine; Chassaing, Nicolas; Chatron, Nicolas; Cogne, Benjamin; Colin, Estelle; Cormier-Daire, Valerie; Dard, Rodolphe; Dauriat, Benjamin; Delanne, Julian; Deleuze, Jean-Francois; Demurger, Florence; Denomme-Pichon, Anne-Sophie; Depienne, Christel; Dieux, Anne; Dubourg, Christele; Edery, Patrick; El Chehadeh, Salima; Faivre, Laurence; Fergelot, Patricia; Fradin, Melanie; Garde, Aurore; Genevieve, David; Gilbert-Dussardier, Brigitte; Goizet, Cyril; Goldenberg, Alice; Gouy, Evan; Guerrot, Anne-Marie; Guimier, Anne; Harzalla, Ines; Heron, Delphine; Isidor, Bertrand; Lacombe, Didier; Horn, Xavier Le Guillou; Keren, Boris; Kuechler, Alma; Lacaze, Elodie; Lavillaureix, Alinoe; Lehalle, Daphne; Lesca, Gaetan; Lespinasse, James; Levy, Jonathan; Lyonnet, Stanislas; Morel, Godelieve; Jean-Marcais, Nolwenn; Marlin, Sandrine; Marsili, Luisa; Mignot, Cyril; Nambot, Sophie; Nizon, Mathilde; Olaso, Robert; Pasquier, Laurent; Perrin, Laurine; Petit, Florence; Pingault, Veronique; Piton, Amelie; Prieur, Fabienne; Putoux, Audrey; Planes, Marc; Odent, Sylvie; Quelin, Chloe; Quemener-Redon, Sylvia; Rama, Melanie; Rio, Marlene; Rossi, Massimiliano; Schaefer, Elise; Rondeau, Sophie; Saugier-Veber, Pascale; Smol, Thomas; Sigaudy, Sabine; Touraine, Renaud; Mau-Them, Frederic Tran; Trimouille, Aurelien; Van Gils, Julien; Vanlerberghe, Clemence; Vantalon, Valerie; Vera, Gabriella; Vincent, Marie; Ziegler, Alban; Guillin, Olivier; Campion, Dominique; Charbonnier, Camille
Academic Journal
Zazo Seco, Celia; Plaisancié, Julie; Lupasco, Tatiana; Michot, Caroline; Pechmeja, Jacmine; Delanne, Julian; Cottereau, Edouard; Ayuso, Carmen; Corton, Marta; Calvas, Patrick; Ragge, Nicola; Chassaing, Nicolas
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[AR] Delanne, Julian
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