학술논문
전자자료 공정이용 안내
우리 대학 도서관에서 구독·제공하는 모든 전자자료(데이터베이스, 전자저널, 전자책 등)는 국내외 저작권법과 출판사와의 라이선스 계약에 따라 엄격하게 보호를 받고 있습니다.
전자자료의 비정상적 이용은 출판사로부터의 경고, 서비스 차단, 손해배상 청구 등 학교 전체에 심각한 불이익을 초래할 수 있으므로, 아래의 공정이용 지침을 반드시 준수해 주시기 바랍니다.
공정이용 지침
- 전자자료는 개인의 학습·교육·연구 목적의 비영리적 사용에 한하여 이용할 수 있습니다.
- 합리적인 수준의 다운로드 및 출력만 허용됩니다. (일반적으로 동일 PC에서 동일 출판사의 논문을 1일 30건 이하 다운로드할 것을 권장하며, 출판사별 기준에 따라 다를 수 있습니다.)
- 출판사에서 제공한 논문의 URL을 수업 관련 웹사이트에 게재할 수 있으나, 출판사 원문 파일 자체를 복제·배포해서는 안 됩니다.
- 본인의 ID/PW를 타인에게 제공하지 말고, 도용되지 않도록 철저히 관리해 주시기 바랍니다.
불공정 이용 사례
- 전자적·기계적 수단(다운로딩 프로그램, 웹 크롤러, 로봇, 매크로, RPA 등)을 이용한 대량 다운로드
- 동일 컴퓨터 또는 동일 IP에서 단시간 내 다수의 원문을 집중적으로 다운로드하거나, 전권(whole issue) 다운로드
- 저장·출력한 자료를 타인에게 배포하거나 개인 블로그·웹하드 등에 업로드
- 상업적·영리적 목적으로 자료를 전송·복제·활용
- ID/PW를 타인에게 양도하거나 타인 계정을 도용하여 이용
- EndNote, Mendeley 등 서지관리 프로그램의 Find Full Text 기능을 이용한 대량 다운로드
- 출판사 콘텐츠를 생성형 AI 시스템에서 활용하는 행위(업로드, 개발, 학습, 프로그래밍, 개선 또는 강화 등)
위반 시 제재
- 출판사에 의한 해당 IP 또는 기관 전체 접속 차단
- 출판사 배상 요구 시 위반자 개인이 배상 책임 부담
'학술논문'
에서 검색결과 444건 | 목록
1~20
Academic Journal
Jeanne, Médéric; Ronce, Nathalie; Remizé, Solène; Arpin, Stéphanie; Baujat, Geneviève; Breton, Sylvain; Petit, Florence; Vanlerberghe, Clémence; Coeslier-Dieux, Anne; Manouvrier-Hanu, Sylvie; Vincent-Delorme, Catherine; Khau Van Kien, Philippe; Van-Gils, Julien; Quélin, Chloé; Pasquier, Laurent; Odent, Sylvie; Demurger, Florence; Laffargue, Fanny; Francannet, Christine; Martin-Coignard, Dominique; Afenjar, Alexandra; Whalen, Sandra; Verloes, Alain; Capri, Yline; Delahaye, Andrée; Plaisancié, Julie; Labrune, Philippe; Destree, Anne; Maystadt, Isabelle; Ciorna Monferrato, Viorca; Isidor, Bertrand; Vincent, Marie; Jean Marçais, Nolwen; Nambot, Sophie; Schaefer, Elise; El Chehadeh, Salima; Lespinasse, James; Collignon, Patrick; Busa, Tiffany; Philip, Nicole; Willems, Marjolaine; Planes, Marc; Vanakker, Olivier; Lambert, Laetitia; Leheup, Bruno; Mathieu-Dramard, Michèle; Morin, Gilles; Dieterich, Klaus; Ginglinger, Emmanuelle; Bayat, Allan; Balasubramanian, Meena; Dauriat, Benjamin; Haye, Damien; Amiel, Jeanne; Rio, Marlène; Cormier-Daire, Valérie; Toutain, Annick
Journal of Medical Genetics. 62:258-267
Academic Journal
Thomas, Hortense; Alix, Tom; Renard, Emeline; Renaud, Mathilde; Wourms, Justine; Zuily, Stéphane; Leheup, Bruno; Geneviève, David; Dreumont, Natacha; Schmitt, Emmanuelle; Bronner, Myriam; Muller, Marc; Divoux, Marion; Wandzel, Marion; Ravel, Jean-Marie; Dexheimer, Mylène; Becker, Aurélie; Roth, Virginie; Willems, Marjolaine; Coubes, Christine; Vieville, Gaëlle; Devillard, Françoise; Schaefer, Élise; Baer, Sarah; Piton, Amélie; Gérard, Bénédicte; Vincent, Marie; Nizon, Mathilde; Cogné, Benjamin; Ruaud, Lyse; Couque, Nathalie; Putoux, Audrey; Edery, Patrick; Lesca, Gaëtan; Chatron, Nicolas; Till, Marianne; Faivre, Laurence; Tran-Mau-Them, Frédéric; Alessandri, Jean-Luc; Lebrun, Marine; Quélin, Chloé; Odent, Sylvie; Dubourg, Christèle; David, Véronique; Faoucher, Marie; Mignot, Cyril; Keren, Boris; Pisan, Élise; Afenjar, Alexandra; Julia, Sophie; Bieth, Éric; Banneau, Guillaume; Goldenberg, Alice; Husson, Thomas; Campion, Dominique; Lecoquierre, François; Nicolas, Gaël; Charbonnier, Camille; de Saint Martin, Anne; Naudion, Sophie; Degoutin, Manon; Rondeau, Sophie; Michot, Caroline; Cormier-Daire, Valérie; Oussalah, Abderrahim; Bossenmeyer-Pourié, Carine; Lambert, Laëtitia; Bonnet, Céline
Journal of Medical Genetics. 61:878-885
Academic Journal
Charpié, Maëlle; Brunelle, Perrine; Baujat, Geneviève; Michot, Caroline; Van Gils, Julien; Leheup, Bruno; Schaefer, Élise; Koumakis, Eugénie; Pejin, Zagorka; Pinto, Graziella; Monnot, Sophie; Cormier-Daire, Valérie
European Journal of Human Genetics. 32(12):1559-1566
Academic Journal
Petzold, Friederike; Billot, Katy; Chen, Xiaoyi; Henry, Charline; Filhol, Emilie; Martin, Yoann; Avramescu, Marina; Douillet, Maxime; Morinière, Vincent; Krug, Pauline; Jeanpierre, Cécile; Tory, Kalman; Boyer, Olivia; Burgun, Anita; Servais, Aude; Salomon, Remi; Benmerah, Alexandre; Heidet, Laurence; Garcelon, Nicolas; Antignac, Corinne; Zaidan, Mohamad; Saunier, Sophie; Attié-Bitach, Tania; Comier-Daire, Valerie; Rozet, Jean-Michel; Frishberg, Yaacov; Llanas, Brigitte; Broyer, Michel; Mohsin, Nabil; Macher, Marie-Alice; Philip, Nicole; Baudouin, Véronique; Brackman, Damian; Loirat, Chantal; Charbit, Marina; Dehennault, Maud; Guyot, Claude; Bataille, Pierre; Elting, Mariet; Deschenes, Georges; Gropman, Andrea; Guest, Geneviève; Gagnadoux, Marie-France; Nicoud, Philippe; Cochat, Pierre; Ranchin, Bruno; Bensman, Albert; Guerrot, Anne-Marie; Knebelmann, Bertrand; Bilge, Ilmay; Bruno, Danièle; Burtey, Stéphane; Rouvière, Caroline Rousset; Caudwell, Valérie; Morin, Denis; Dollfus, Hélène; Maisin, Anne; Hamel, Christian; Bieth, Eric; Gie, Sophie; Goodship, Judith; Roussey, Gwenaelle; La Selve, Hermine; Nivet, Hubert; Bessenay, Lucie; Caillez, Mathilde; Palcoux, Jean Bernard; Benoît, Stéphane; Dubot, Philippe; Fila, Marc; Giuliano, Fabienne; Iftene, Daouya; Kessler, Michele; Kwon, Theresa; Lahoche, Anine; Laurent, Audrey; Leclerc, Anne-Laure; Milford, David; Neuhaus, Thomas; Odent, Sylvie; Eckart, Philippe; Chauveau, Dominique; Niaudet, Patrick; Repetto, Horacio; Taque, Sophie; Bruel, Alexandra; Noel-Botte, Alexandra; Launay, Emma Allain; Allard, Lisa; Anlicheau, Dany; Adra, Anne-Laure; Garnier, Arnaud; Nagra, Arvind; Baatard, Remy; Bacchetta, Justine; Sadikoglu, Banu; Barnerias, Christine; Barthelemy, Anne; Basel, Lina; Bassilios, Nader; Ben Maiz, Hedi; Ben Moussa, Fatma; Benmati, Faïza; Berthaud, Romain; Bertholet, Aurélia; Blanchier, Dominique; Boffa, Jean Jacques; Bouchireb, Karim; Bouhabel, Ihab; Boukerroucha, Zakaria; Bourdat-Michel, Guylhène; Boute, Odile; Brochard, Karine; Caumes, Roseline; Elalaoui, Siham Chafai; Chamontin, Bernard; Chastang, Marie Caroline; Pietrement, Christine; Richer, Christine; Legendre, Christophe; Dahan, Karin; Dalla-Vale, Fabienne; Thibaudin, Damien; Dauvergne, Maxime; Davourie, Salandre; Debeukelaer, Martin; Delbet, Jean Daniel; Deltas, Constantinos; Graber, Denis; Devillars, Nadège; Diouf, Boucar; Fenzy, Martine Doco; André, Jean-Luc; Joly, Dominique; Fryer, Alan; Albano, Laetitia; Cassuto, Elisabeth; Pincon, Aline; Medeira, Ana; Chaussenot, Annabelle; Mensire-Marinier, Anne; Bouissou, Francois; Decramer, Stéphane; Bottani, Armand; Hummel, Aurélie; Karras, Alexandre; Katz, Avi; Azema, Christine; Janbon, Bénédicte; Roussel, Bernard; Bonniol, Claude; Mariat, Christiophe; Champion, Gérard; Chantreuil, Deborah; Chassaing, Nicolas; Mousson, Christiane; Baudeau, Christine; Cuntz, Delphine Hafdar; Mignot, Cyril; Dehoux, Laurene; Lacombe, Didier; Hannedouche, Thierry; Mérieau, Elodie; Charlin, Emmanuelle; Gauthier, Eric; Plasse, Florent; Faguer, Stanislas; Lebas, Fanny; Demurger, Florence; Emma, Francesco; Cartault, François; Dumont, Geneviève; Godefroid, Nathalie; Guigonis, Vincent; Hillaire, Sophie; Groothoff, Jaap; Dudley, Jan; Jourde-Chiche, Noémie; El Karoui, Khalil; Krid, Saoussen; Coudert, Krier; Bencheick, Larbi; Yver, Laurent; Lavocat, Marie-Pierre; de Sagazan, Le Monies; Leroy, Valerie; Thibaudin, Lise; Ingulli, Liz; Gwanmesia, Lorraine; Burglen, Lydie; Saïd-Menthon, Marie-Hélène; Carrera, Marta; Nizon, Mathilde; Melander, Catherine; Foulard, Michel; Blayo, Monique; Prinseau, Jacques; Jay, Nadine; Brun, Nathalie; Camille, Nicolas; Nobili, François; Devuyst, Olivier; Ben Brahim, Ouafa; Parvex, Paloma; Sabourin, Laurence Perrin; Blanc, Philippe; Vanhille, Philippe; Galichon, Pierre; Pierrepont, Sophie; Planquois, Vincent; Poussard, Gwenaelle; Noble, Claire Pouteil; Allal, Radia; Bernard, Raphaelle; Mounet, Raynaud; Cahen, Rémi; Touraine, Renaud; Rigothier, Claire; Ryckewaert, Amélie; Sacquepee, Mathieu; El Chehadeh, Salima; Samaille, Charlotte; Haq, Shuman; Simckes, Ari; Lanoiselée, Stéphanie; Tellier, Stephanie; Subra, Jean-François; Cloarec, Sylvie; Tenenbam, Julie; Lamy, Thomas; Garraud, Valérie Drouin; Valette, Huguette; Meyssonnier, Vanina; Vargas-Poussou, Rosa; Snajer, Yves; Durault, Sandrine; Plaisier, Emmanuelle; Berard, Etienne; Fakhouri, Fadi; Louillet, Ferielle; Finielz, Paul; Fischbach, Michel; Foliguet, Bernard; Francois-Pradier, Hélène; Garaix, Florentine; Gerard, Marion; Rizzoni, Gianfranco; Gilbert, Brigitte; Glotz, Denis; Dubrasquet, Astrid Godron; Grünfeld, Jean-Pierre; Bollee, Guillaume; Hall, Michelle; Hansson, Sverker; Haye, Damien; Taffin, Hélène; Hildebrandt, Friedhelm; Hourmand, Maryvonne; Kayserili, Hümya; Tack, Ivan; Jacquemont, Marie Line; Fabre-Teste, Jennifer; Kashtan, Cliff; van Hoeck, Kkoen; Klein, Alexandre; Knefati, Yannick; Knoers, Nine; Konrad, Martin; Lachaux, Alain; Landru, Isabelle; Landthaler, Gilbert; Lang, Philippe; Le Pogamp, Patrick; Legris, Tristan; Didailler, Catherine; Lobbedez, Thierry; de Parscau, Loïc; Pinson, Lucile; Maheut, Hervé; Duval-Arnould, Marc; Rio, Marlène; Gubler, Marie-Claire; Merville, Pierre; Mestrallet, Guillaume; Meunier, Maite; Moreau, Karine; Harambat, Jérôme; Morgan, Graeme; Mourad, Georges; Stuber, Niksic; Boespflug-Tanguy, Odile; Dunand, Olivier; Niel, Olivier; Ouali, Nacera; Malvezzi, Paolo; Jaoude, Pauline Abou; Pelletier, Solenne; Peltier, Julie; Petersen, M.B.; Michel, Philippe; Rémy, Philippe; Philit, Jean-Baptiste; Pichault, Valérie; Billette de Villemeur, Thierry; Boudailliez, Bernard; Leheup, Bruno; Dossier, Claire; Djeddi, Djamal-Dine; Berland, Yves; Hurault de Ligny, Bruno; Rigden, Susan; Robino, Christophe; Rossi, Annick; Sarnacki, Sabine; Saidani, Messaoud; Sartorius, Albane Brodin; Schäfer, Elise; Laszlo, Sztriha; Thouret, Marie-Christine; Thuillier-Lecouf, Angélique; Trachtman, Howard; Trivin, Claire; Tsimaratos, Michel; van Damme-Lombaerts, Rita; Willems, Marjolaine; Youssef, Michel; Zaloszyc, Ariane; Zawodnik, Alexis; Ziliotis, Marie-Julia
INSERM–Necker Hospital NPH collaborative group 2023, 'The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies', Kidney International, vol. 104, no. 2, pp. 378-387. https://doi.org/10.1016/j.kint.2023.05.007
Refined genotype–phenotype correlations in neurofibromatosis type 1 patients with NF1 point variants
Academic Journal
Pacot, Laurence; Blok, Marinus; Vidaud, Dominique; Fertitta, Laura; Laurendeau, Ingrid; Coustier, Audrey; Maillard, Theodora; Barbance, Cécile; Hadjadj, Djihad; Ye, Manuela; Lallemand, Dominique; Ferkal, Salah; Funalot, Benoit; Lunati-Rozie, Ariane; Hebrard, Bérénice; Bhouri, Rakia; Spruijt, Liesbeth; Bessis, Didier; Geneviève, David; Vernimmen, Vivian; Broen, Martinus; Sigaudy, Sabine; Odent, Sylvie; Damaj, Léna; Quélin, Chloé; Pasquier, Laurent; Layet, Valérie; Gilbert-Dussardier, Brigitte; Nicolas, Gaël; Guerrot, Anne-Marie; Leheup, Bruno; Bursztejn, Anne-Claire; Petit, Florence; Boute-Bénéjean, Odile; Capri, Yline; Guimier, Anne; Lyonnet, Stanislas; Baujat, Genevieve; Bourrat, Emmanuelle; Isidor, Bertrand; Nizon, Mathilde; Barbarot, Sébastien; Toutain, Annick; Blesson, Sophie; Van-Gils, Julien; Morice-Picard, Fanny; Audebert-Bellanger, Séverine; Mazereeuw-Hautier, Juliette; Ziegler, Alban; Alembik, Yves; Piard, Juliette; Brischoux-Boucher, Elise; Guerrini-Rousseau, Léa; Morera, Julia; Paquis-Flucklinger, Véronique; Delobel, Bruno; Alessandri, Jean-Luc; Parfait, Béatrice; Wolkenstein, Pierre; Pasmant, Eric
Journal of Medical Genetics. :jmg-2025
Academic Journal
Depienne, Christel; Nava, Caroline; Keren, Boris; Heide, Solveig; Rastetter, Agnès; Passemard, Sandrine; Chantot-Bastaraud, Sandra; Moutard, Marie Laure; Agrawal, Pankaj B.; VanNoy, Grace; Stoler, Joan M.; Amor, David J; Billette de Villemeur, Thierry; Doummar, Diane; Alby, Caroline; Cormier-Daire, Valérie; Garel, Catherine; Marzin, Pauline; Scheidecker, Sophie; de Saint-Martin, Anne; Hirsch, Edouard; Korff, Christian; Bottani, Armand; Faivre, Laurence; Verloes, Alain; Orzechowski, Christine; Burglen, Lydie; Leheup, Bruno; Roume, Joelle; Andrieux, Joris; Sheth, Frenny; Datar, Chaitanya; Parker, Michael J.; Pasquier, Laurent; Odent, Sylvie; Naudion, Sophie; Delrue, Marie Ange; Le Caignec, Cédric; Vincent, Marie; Isidor, Bertrand; Renaldo, Florence; Stewart, Fiona; Toutain, Annick; Koehler, Udo; Häckl, Birgit; von Stülpnagel, Celina; Kluger, Gerhard; Møller, Rikke S.; Jonson, Tord; Soller, Maria; DDD Study
Human Genetics. 136(4):463-479
Academic Journal
Levaillant, Lucie; Bouhours-Nouet, Natacha; Illouz, Frédéric; Amsellem Jager, Jessica; Bachelot, Anne; Barat, Pascal; Baron, Sabine; Bensignor, Candace; Brac De La Perriere, Aude; Braik Djellas, Yasmine; Caillot, Morgane; Caldagues, Emmanuelle; Campas, Marie-Neige; Caquard, Marylène; Cartault, Audrey; Cheignon, Julie; Decrequy, Anne; Delemer, Brigitte; Dieckmann, Katherine; Donzeau, Aurélie; Doye, Emilie; Fradin, Mélanie; Gaudillière, Mélanie; Gatelais, Frédérique; Gorce, Magali; Hazart, Isabelle; Houcinat, Nada; Houdon, Laure; Ister-Salome, Marielle; Jozwiak, Lucie; Jeannoel, Patrick; Labarthe, Francois; Lacombe, Didier; Lambert, Anne-Sophie; Lefevre, Christine; Leheup, Bruno; Leroy, Clara; Maisonneuve, Benedicte; Marchand, Isis; Marquant, Emeline; Muszlak, Matthias; Pantalone, Letitia; Pochelu, Sandra; Quelin, Chloé; Radet, Catherine; Renoult-Pierre, Peggy; Reynaud, Rachel; Rouleau, Stéphanie; Teinturier, Cécile; Thevenon, Julien; Turlotte, Caroline; Valle, Aline; Vierge, Melody; Villanueva, Carine; Ziegler, Alban; Dieu, Xavier; Bouzamondo, Nathalie; Rodien, Patrice; Prunier-Mirebeau, Delphine; Coutant, Régis
J Clin Endocrinol Metab
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
Sloboda, Natacha ; Renard, Emeline ; Lambert, Laetitia ; Bonnet, Céline ; Leheup, Bruno ; Todosi, Calina ; Schmitt, Emmanuelle ; Feillet, François ; Feigerlova, Eva ; Piton, Amélie ; Journeau, Pierre ; Klein, Marc ; Maillard, Louis ; Chelly, Jamel ; Renaud, Mathilde
In European Journal of Medical Genetics November 2023 66(11)
Academic Journal
Rieger, Melissa ; Moutton, Sébastien ; Verheyen, Sarah ; Steindl, Katharina ; Popp, Bernt ; Leheup, Bruno ; Bonnet, Céline ; Oneda, Beatrice ; Rauch, Anita ; Reis, André ; Krumbiegel, Mandy ; Hüffmeier, Ulrike
In European Journal of Medical Genetics January 2023 66(1)
Academic Journal
Jean-Marie Ravel; Mathilde Renaud; Jean Muller; Aurélie Becker; Émeline Renard; Thomas Remen; Geneviève Lefort; Mylène Dexheimer; Philippe Jonveaux; Bruno Leheup; Céline Bonnet; Laëtitia Lambert
Genome Medicine, Vol 15, Iss 1, Pp 1-10 (2023)
Academic Journal
Melliou, Sofia ; Sangster, Kevin T. ; Kao, Jennifer ; Zarrei, Mehdi ; Lam, K.H. Brian ; Howe, Jennifer ; Papaioannou, Michail-Dimitrios ; Tsang, Queenie P.L. ; Borhani, Okty Abbasi ; Sajid, Rifat Shahriar ; Bonnet, Céline ; Leheup, Bruno ; Shannon, Patrick ; Scherer, Stephen W. ; Stavropoulos, Dimitri James ; Djuric, Ugljesa ; Diamandis, Phedias
In Cell Reports 24 May 2022 39(8)
Academic Journal
Agopiantz, Mikaël ; Sorlin, Arthur ; Vabres, Pierre ; Leheup, Bruno ; Carmignac, Virginie ; Malaplate-Armand, Catherine ; Diligent, Catherine ; Bonnet, Céline ; Gauchotte, Guillaume
In Journal of Gynecology Obstetrics and Human Reproduction November 2021 50(9)
Academic Journal
Sakhi, Soraya ; Cholet, Sophie ; Wehbi, Samer ; Isidor, Bertrand ; Cogne, Benjamin ; Vuillaumier-Barrot, Sandrine ; Dupré, Thierry ; Detleft, Trost ; Schmitt, Emmanuelle ; Leheup, Bruno ; Bonnet, Céline ; Feillet, François ; Muti, Christine ; Fenaille, François ; Bruneel, Arnaud
In Molecular Genetics and Metabolism Reports September 2021 28
Academic Journal
Moiny-Fouquet, Mathilde ; Guillaume, Claire ; Berlengi, Noémie ; Lapp, Lucie ; Watelet, Claire ; Borsa-Dorion, Anne ; Bernard, Yohann ; Baumann, Cédric ; Luc, Amandine ; Schweitzer, Cyril ; Leheup, Bruno ; Bursztejn, Anne-Claire
In Archives de pédiatrie July 2021 28(5):417-421
Academic Journal
Agnes Bloch-Zupan; Tristan Rey; Alexandra Jimenez-Armijo; Marzena Kawczynski; Naji Kharouf; O-Rare consortium; Muriel de La Dure-Molla; Emmanuelle Noirrit; Magali Hernandez; Clara Joseph-Beaudin; Serena Lopez; Corinne Tardieu; Béatrice Thivichon-Prince; ERN Cranio Consortium; Tatjana Dostalova; Milan Macek; International Consortium; Mustapha El Alloussi; Leila Qebibo; Supawich Morkmued; Patimaporn Pungchanchaikul; Blanca Urzúa Orellana; Marie-Cécile Manière; Bénédicte Gérard; Isaac Maximiliano Bugueno; Virginie Laugel-Haushalter; Yves Alembik; Victorin Ahossi; Isabelle Bailleul-Forestier; Isabelle Blanchet; Ariane Berdal; Marie José Boileau; Nicolas Chassaing; François Clauss; Caroline Delfosse; Anne De-Saint-Martin; Jean-Christophe Dahlet; Bérénice Doray; Jean-Luc Davideau; Tiphaine Davit-Béal; Hélène Dollfus; Jean-Pierre Duprez; Muriel de La Dure Molla; Klauss Dieterich; Dominique Droz; Salima El Chehadeh; Olivier Etienne; Edouard Euvrard; Laurence Faivre; Benjamin Fournier; Elsa Garot; Bruno Grollemund; Nathalie Guffon-Fouilhoux; Mathilde Huckert; Bertand Isidor; Sophie Jung; Didier Lacombe; Alinoe Lavillaurex; Marine Lebrun; Bruno Leheup; Adeline Loing; Sandrine Marlin; Jean-Jacques Morrier; Michèle Muller-Bolla; Sylvie Odent; Marie Paule Gelle; Juliette Piard; Linda Pons; Béatrice Richard; Massimiliano Rossi; Prune Sadones; Elise Schaefer; Jean-Louis Sixou; Sylvie Soskin; Marion Strub; Annick Toutain; Alain Verloes; Frédéric Vaysse; Delphine Wagner
Frontiers in Physiology, Vol 14 (2023)
Academic Journal
Ravel, Jean-Marie; Benkirane, Mehdi; Calmels, Nadège; Marelli, Cecilia; Ory-Magne, Fabienne; Ewenczyk, Claire; Halleb, Yosra; Tison, François; Lecocq, Claire; Pische, Guillaume; Casenave, Philippe; Chaussenot, Annabelle; Frismand, Solène; Tyvaert, Louise; Larrieu, Lise; Pointaux, Morgane; Drouot, Nathalie; Bossenmeyer-Pourié, Carine; Oussalah, Abderrahim; Guéant, Jean-Louis; Leheup, Bruno; Bonnet, Céline; Anheim, Mathieu; Tranchant, Christine; Lambert, Laëtitia; Chelly, Jamel; Koenig, Michel; Renaud, Mathilde
Journal of Neurology. 268:1927-1937
Academic Journal
Chevarin, Martin; Duffourd, Yannis; a Barnard, Rebecca; Moutton, Sébastien; Lecoquierre, François; Daoud, Fatma; Kuentz, Paul; Cabret, Caroline; Thevenon, Julien; Gautier, Elodie; Callier, Patrick; St-Onge, Judith; Jouan, Thibaud; Lacombe, Didier; Delrue, Marie Ange; Goizet, Cyril; Morice-Picard, Fanny; Van-Gils, Julien; Munnich, Arnold; Lyonnet, Stanislas; Cormier-Daire, Valérie; Baujat, Geneviève; Holder, Muriel; Petit, Florence; Leheup, Bruno; Odent, Sylvie; Jouk, Pierre-Simon; Lopez, Gipsy; Geneviève, David; Collignon, Patrick; Martin-Coignard, Dominique; Jacquette, Aurélia; Perrin, Laurence; Putoux, Audrey; Sarrazin, Elisabeth; Amarof, Khadija; Missotte, Isabelle; Coubes, Christine; Jagadeesh, Sujatha; Lapi, Elisabetta; Demurger, Florence; Goldenberg, Alice; Doco-Fenzy, Martine; Mignot, Cyril; Héron, Delphine; Jean-Marçais, Nolwenn; Masurel, Alice; El Chehadeh, Salima; Marle, Nathalie; Huet, Frédéric; Binquet, Christine; Collod-Beroud, Gwenaëlle; Arnaud, Pauline; Hanna, Nadine; Boileau, Catherine; Jondeau, Guillaume; Olaso, Robert; Lechner, Doris; Poe, Charlotte; Assoum, Mirna; Carmignac, Virginie; Duplomb, Laurence; Tran Mau-Them, Frédéric; Philippe, Christophe; Vitobello, Antonio; Bruel, Ange-Line; Boland, Anne; Deleuze, Jean-François; Thauvin-Robinet, Christel; Rivière, Jean-Baptiste; O'Roak, Brian; Faivre, Laurence
Journal of Medical Genetics. 57:466-474
Academic Journal
Margot, Henri ; Boursier, Guilaine ; Duflos, Claire ; Sanchez, Elodie ; Amiel, Jeanne ; Andrau, Jean-Christophe ; Arpin, Stéphanie ; Brischoux-Boucher, Elise ; Boute, Odile ; Burglen, Lydie ; Caille, Charlotte ; Capri, Yline ; Collignon, Patrick ; Conrad, Solène ; Cormier-Daire, Valérie ; Delplancq, Geoffroy ; Dieterich, Klaus ; Dollfus, Hélène ; Fradin, Mélanie ; Faivre, Laurence ; Fernandes, Helder ; Francannet, Christine ; Gatinois, Vincent ; Gerard, Marion ; Goldenberg, Alice ; Ghoumid, Jamal ; Grotto, Sarah ; Guerrot, Anne-Marie ; Guichet, Agnès ; Isidor, Bertrand ; Jacquemont, Marie-Line ; Julia, Sophie ; Khau Van Kien, Philippe ; Legendre, Marine ; Le Quan Sang, K.H. ; Leheup, Bruno ; Lyonnet, Stanislas ; Magry, Virginie ; Manouvrier, Sylvie ; Martin, Dominique ; Morel, Godelieve ; Munnich, Arnold ; Naudion, Sophie ; Odent, Sylvie ; Perrin, Laurence ; Petit, Florence ; Philip, Nicole ; Rio, Marlène ; Robbe, Julie ; Rossi, Massimiliano ; Sarrazin, Elisabeth ; Toutain, Annick ; Van Gils, Julien ; Vera, Gabriella ; Verloes, Alain ; Weber, Sacha ; Whalen, Sandra ; Sanlaville, Damien ; Lacombe, Didier ; Aladjidi, Nathalie ; Geneviève, David
In Genetics in Medicine January 2020 22(1):181-188
검색 결과 제한하기
제한된 항목
[검색어] LeHeup, Bruno
발행연도 제한
-
학술DB(Database Provider)
저널명(출판물, Title)
출판사(Publisher)
자료유형(Source Type)
주제어
언어