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 307건 | 목록
1~20
Academic Journal
Malbos, Marlène; Gautier, Thierry; Shillington, Amelle; Colin, Estelle; Le Guillou, Xavier; Caluseriu, Oana; Isidor, Bertrand; Cogné, Benjamin; Mignot, Cyril; Keren, Boris; Weber, Sacha; Jacquin, Clémence; Dudding, Tracy; Calame, Daniel; Piard, Juliette; Levy, Jonathan; Latypova, Xenia; Verloes, Alain; Niclass, Tanguy; Jacquette, Aurélia; White, Lori; Moizard, Marie-Pierre; Dollfus, Hélène; Moutton, Sébastien; Delanne, Julian; Racine, Caroline; Thomas, Quentin; Denommé-Pichon, Anne-Sophie; Tran Mau-Them, Frédéric; Bruel, Ange-Line; Safraou, Hana; Philippe, Christophe; Duffourd, Yannis; Thauvin-Robinet, Christel; Govin, Jérôme; Vitobello, Antonio; Faivre, Laurence
European Journal of Human Genetics. 33(12):1585-1595
Academic Journal
Ghayda M. Mirzaa; Keqin Yan; Raissa Relator; Mathieu Levesque; Pranisha Jayasinghe; Sara Timpano; Binnaz Yalcin; Stephan Collins; Alban Ziegler; Emily Pao; Nora Oyama; Elise Brischoux-Boucher; Juliette Piard; Kristin G. Monaghan; Maria. J. Guillen Sacoto; William B. Dobyns; Kristen L. Park; Daniel Martin Fernández-Mayoralas; Alberto Fernández-Jaén; Parul Jayakar; María Palomares-Bralo; Fernando Santos-Simarro; Alfredo Brusco; Vincenzo Antona; Elisa Giorgio; Malin Kvarnung; Bertrand Isidor; Solène Conrad; Benjamin Cogné; Wallid Deb; Kyra E. Stuurman; Katalin Štěrbová; Noor Smal; Sarah Weckhuysen; Renske Oegema; A. Micheil Innes; Daniel. C. Koboldt; Tawfeg Ben-Omran; Rebecca C. Yeh; Michael C. Kruer; Somayeh Bakhtiari; Antigone Papavasiliou; Sébastien Moutton; Sophie Nambot; Sirisak Chanprasert; Sarah A. Paolucci; Kait Miller; Barbara Burton; Katherine Kim; Emily O’Heir; Zandre Bruwer; Kirsten. A. Donald; Tjitske Kleefstra; Amy Goldstein; Brad Angle; Kelly Bontempo; Peter Miny; Pascal Joset; Florence Demurger; Emma Hobson; Lewis Pang; Lori Carpenter; Dong Li; Dominique Bonneau; Bekim Sadikovic; David J. Picketts
Nature Communications, Vol 16, Iss 1, Pp 1-21 (2025)
Academic Journal
Thauvin-Robinet, Christel; Garde, Aurore; Favier, Maud; Delanne, Julian; Racine, Caroline; Rousseau, Thierry; Nambot, Sophie; Bruel, Ange-Line; Moutton, Sébastien; Quelin, Chloé; Colson, Cindy; Brehin, Anne-Claire; Guerrot, Anne-Marie; Rooryck, Caroline; Putoux, Audrey; Blanchet, Patricia; Odent, Sylvie; Schaefer, Elise; Boute, Odile; Goldenberg, Alice; Guichet, Agnes; Abel, Carine; Morel, Godelieve; Fradin, Melanie; Isidor, Bertrand; Vincent, Marie; Francannet, Christine; Vera, Gabriella; Petit, Florence; Nizon, Mathilde; Wells, Constance; Jeanne, Mederic; Deiller, Caroline; Ziegler, Alban; Godin, Manon; Saugier-Veber, Pascale; Cassinari, Kevin; Blanc, Pierre; Simon, Emmanuel; Binquet, Christine; Duffourd, Yannis; Safraou, Hana; Denomme-Pichon, Anne-Sophie; Vitobello, Antonio; Philippe, Christophe; Faivre, Laurence; Tran-Mau-Them, Frédéric; Bourgon, Nicolas
European Journal of Human Genetics. 33(5):675-682
Academic Journal
Raphael Carapito; Anne Molitor; Lisa Pavinato; Alaa Skeyni; Magalie Lambert; Angélique Pichot; Jiuhong Jiang; Perrine Spinnhirny; Lucie Zimmermann; Philippe Boucher; Clara W. T. Chung; Noha Elserafy; Edward M. Blair; Dong Li; Bhoj Elisabeth; Urania Kotzaeridou; Stephanie Karch; Matias Wagner; Roelineke J. Lunsing; Rolph Pfundt; Kym M. Boycott; Ange-Line Bruel; Frédéric Tran Mau-Them; Sébastien Moutton; Valerio Conti; Davide Mei; Valentina Cetica; Renzo Guerrini; Theresa Brunet; Patrick Rump; Alessandro Mussa; Alfredo Brusco; Gabrielle Lemire; Bert B. A. de Vries; Zhichao Miao; Bertrand Isidor; Seiamak Bahram
European Journal of Human Genetics. 33:966-972
Academic Journal
Delphine Héron; Anna Gerasimenko; Lisa Frugère; Jade Ducourneau; Capucine Rossi; Caroline Nava; Jean-Madeleine de Sainte-Agathe; Cyril Mignot; Daphné Lehalle; Sarah Grotto; Laila El-Khattabi; Toan Nguyen; Catherine Garel; Eleonore Blondiaux; Mathieu Milh; Béatrice Desnous; Nadine Girard; Vincent des Portes; Laurent Guibaud; Isabelle Sabatier; Olivier Patat; Sophie Julia; Alexandra Benachi; Alexandre Vivanti; Olivier Picone; Agnès Guet; Mathilde Nizon; Marie Vincent; Solène Conrad; Claudine Le Vaillant; Thierry Billette de Villemeur; Sébastien Moutton; Vassilis Tsatsaris; Lucie Guilbaud; Jean-Marie Jouannic; Stéphanie Valence; Boris Keren; Solveig Heide
Brain.
Academic Journal
Fiona Leduc; Perrine Brunelle; Fabienne Escande; Nassima Ramdane; Laurence Bellengier; Léa Giacomello; Christine Lefevre; Aurélie Mezel; Charlotte Samaille; Rony Sfeir; Philippine Toulemonde; Catheline Vilain; Sebastian Neuens; Julie Soblet; Elise Schaefer; Olivia Boyer; Radka Stoeva; Alissandre Lecordier; Mathilde Nizon; Bertrand Isidor; Solène Conrad; Laëtitia Lambert; Mélanie Berard-Cloteau; Maria K Haanpää; Minna Toivonen; Sahar Mansour; Mohamed Wafik; Shereen Tadros; Abid Sharif; Lewis Darnell; Khaoula Zaafrane-Khachnaoui; Lucile Riera-Navarro; Fanny Morice-Picard; Klaus Dieterich; Alicia Coudert; Sophie Blesson; Anne-Marie Guerrot; Sacha Weber; Kara Ranguin; Sabine Sigaudy; Olga Glazunova; Geneviève Baujat; Sarah Grotto; Sébastien Moutton; Audrey Putoux; Hélène Vallin; Sylvie Manouvrier-Hanu; Catherine Vincent-Delorme; Florence Petit; Clémence Vanlerberghe
European Journal of Human Genetics.
Academic Journal
Abadie, Caroline; Abderrahmane, Aldja; Abdous, Ouarda; Abel, Carine; Ackermann, Oanez; Acquaviva, Cécile; Ader, Flavie; Adham, Salma; Adjaoud, Dalila; Afenjar, Alexandra; Aladjidi, Nathalie; Alary, Anne-Sophie; Albarel, Frédérique; Albert, Sabrina; Allard, Lise; Allix, Ingrid; Alunni, Violaine; Amado, Inês F.; Amouroux, Cyril; André, Nicolas; Angelini, Chloé; Anheim, Mathieu; Sanfelliz, Ignacio Antolin; Aparicio, Thomas; Arfeuille, Chloé; Arlet, Jean-Benoît; Arnaud, Lionel; Arnaud, Pauline; Arnold, Guilhem; Attie-Bitach, Tania; Aubert-Mucca, Marion; Audo, Isabelle; Audrezet, Marie-Pierre; Auroux, Maxime; Auzanneau, Céline; Ayrignac, Xavier; Ba, Ibrahima; Bachelot, Anne; Bacq, Delphine; Bacrot, Séverine; Bader-Meunier, Brigitte; Baer, Sarah; Baert-Desurmont, Stéphanie; Bal-Theoleyre, Laurence; Balogoun, Ralyath; Baltzinger, Philippe; Banneau, Guillaume; Bar, Claire; Barbet, Audrey; Barcia, Giulia; Barjhoux, Laure; Barlier, Anne; Barlogis, Vincent; Barritault, Marc; Barth, Magalie; Barthod-Malat, Aurore; Baudouin-Cornu, Peggy; Baujat, Geneviève; Baurand, Amandine; Bay, Jacques-Olivier; Beau-Faller, Michèle; Beaudoin, Jean-Christophe; Bellance, Rémi; Bellanné-Chantelot, Christine; Bellera, Carine; Belot, Alexandre; Ben Abdeljelil, Raihane; Ben Sghaier, Rihab; Benadiba, Joy; Benard, Stéphanie; Beneteau, Claire; Benistan, Karelle; Benkerdou, Fouzia; Benkirane, Mehdi; Benoist, Jean-François; Benusiglio, Patrick R.; Bérat, Claire-Marine; Bergès, Camille; Bergougnoux, Anne; Bernadach, Maureen; Bernard, Emilien; Bernard, Valérie; Bernard, Virginie; Beroug, Dounia; Berrard, Aurélie; Bertherat, Jérôme; Berthet, Pascaline; Berthier, Clotilde; Bertholet-Thomas, Aurélia; Bertocchio, Jean-Philippe; Bertucci, François; Besse, Céline; Besse-Pinot, Elsa; Bessis, Didier; Beuvain, Pauline; Bezieau, Stéphane; Bidart, Marie; Bièche, Ivan; Biehler, Margaux; Bienvenu, Thierry; Bilan, Frédéric; Billon, Clarisse; Binquet, Christine; Bismuth, Elise; Bizaoui, Varoona; Blanc, Pierre; Blanché, Hélène; Blay, Jean-Yves; Bloch, Adrien; Bloch, Gilles; Bloch-Zupan, Agnès; Bocquet, Béatrice; Boedec, Morgane; Boileau, Catherine; Boissinot, Maureen; Boland, Anne; Bolze, Pierre-Adrien; Bonadona, Valérie; Bonastre, Julia; Bonello-Palot, Nathalie; Bonnard, Adeline-Alice; Borie, Raphaël; Botsen, Damien; Bouattour, Mohamed; Bouctot, Marion; Bouhours-Nouet, Natacha; Bouligand, Jérôme; Bouras, Ahmed; Bourgeron, Thomas; Bourges, Jean-Louis; Bourrat, Emmanuelle; Boursier, Guilaine; Bousquet, Guilhem; Bousquet, Philippe-Jean; Boussion, Simon; Boutaud, Lucile; Boutin, Julian; Bouvagnet, Patrice; Bouvattier, Claire; Boyault, Sandrine; Brac de la Perriere, Aude; Brahmi, Mehdi; Brard, Valentine; Brasseur, Mathilde; Brazzalotto, Nadège; Brémond-Gignac, Dominique; Briand-Suleau, Audrey; Briet, Claire; Bringuier, Pierre-Paul; Bris, Céline; Brischoux-Boucher, Elise; Brochard, Karine; Broly, Martin; Brosseau, Laura; Bruel, Ange-Line; Brunelle, Perrine; Bubien, Virginie; Buecher, Bruno; Buffet, Alexandre; Buisson, Adrien; Burglen, Lydie; Des Roziers, Cyril Burin; Burnichon, Nelly; Busa, Tiffany; Cabart, Mathilde; Cabet, Sara; Caille-Benigni, Charlotte; Caillot, Claire; Calvin, Christophe; Cambon-Thomsen, Anne; Cances, Claude; Cantan, Alexandre; Carausu, Liana; Carbasse, Aurélia; Carbonneil, Cédric; Cariou, Bertrand; Caron, Olivier; Carras, Sylvain; Cartalat, Stéphanie; Cassinari, Kévin; Castelle, Martin; Castéra, Laurent; Castinetti, Frédéric; Catteau, Julie; Caumes, Roseline; Caux, Aurélien; Cavaillé, Mathias; Cavé, Hélène; Caye-Eude, Aurélie; Cazeneuve, Cécile; Celse, Tristan; Celton, Noémie; Cenni, Camille; Cévost, Jasmin; Chaabna, Rania; Chabrol, Brigitte; Challet, Ilyas; Chalumeau, Clélia; Chambon, Pascal; Chansavang, Albain; Chanson, Jean-Baptiste; Chapelant, Sébastien; Charbit-Henrion, Fabienne; Charles, Perrine; Charpie, Maëlle; Charrière, Sybil; Charron, Philippe; Chassaing, Nicolas; Chatron, Nicolas; Chaumette, Boris; Chaussain, Catherine; Chaussenot, Annabelle; Cheillan, David; Chenavier, Olivier; Chesneau, Bertrand; Chevalier, Louise-Marie; Chomienne, Christine; Chougnet, Cécile; Christin-Maitre, Sophie; Chuet, Marine; Clappier, Emmanuelle; Clet, Johanna; Cloteau, Mélanie; Cluzeau, Thomas; Cogan, Guillaume; Cogné, Benjamin; Cohen, Alicia; Cohen, Camille; Cohen-Haguenauer, Odile; Cohen-Solal, Martine; Colas, Chrystelle; Colin, Estelle; Collet, Corinne; Collin-Chavagnac, Delphine; Colliou, Éloïse; Collonge-Rame, Marie-Agnès; Colmard, Maxime; Coopman, Stéphanie; Coppin, Lucie; Coquan, Elodie; Cormier-Daire, Valérie; Corradini, Nadège; Corsini, Carole; Cossée, Mireille; Coste, Thibault; Cotteret, Sophie; Cottet, Rachel; Coubes, Christine; Coulet, Florence; Couque, Nathalie; Couratier, Philippe; Courbebaisse, Marie; Courbette, Olivier; Courdier, Cécile; Coursimault, Juliette; Courtin, Thomas; Courtois, Lucien; Coury, Fabienne; Coutos-Thévenot, Laure; Coutton, Charles; Creveaux, Isabelle; Crickx, Etienne; Crivelli, Louise; Cuggia, Marc; Cuisset, Laurence; Curcio, Hubert; Curie, Aurore; Cusin, Veronica; Da Costa, Noémie; Da Cruz, Lionel; Dahlen, Éric; Dardenne, Antoine; Dauriat, Benjamin; Dausse, Nell; De Becdelièvre, Alix; De Fraipont, Florence; De La Cruz, Élisa; De la Motte Rouge, Thibault; De Lonlay, Pascale; De Montgolfier, Sandrine; De Pauw, Antoine; De Reyniès, Aurélien; De Sainte Agathe, Jean-Madeleine; De Tayrac, Marie; Defachelles, Anne-Sophie; Degaud, Michaël; Deiller, Caroline; Delabesse, Éric; Delachaux, Leslie; Delahaye-Duriez, Andrée; Delemer, Brigitte; Deleuze, Jean-François; Delhomelle, Hélène; Delmas, Christelle; Delnatte, Capucine; Delorme, Catherine; Delorme, Richard; Demeer, Bénédicte; Demilly, Caroline; Denizeau, Philippe; Denjoy, Isabelle; Denommé-Pichon, Anne-Sophie; Depienne, Christel; Derive, Nicolas; Dervillé, Flora; Portes, Vincent Des; Desguerre, Isabelle; Desnous, Béatrice; Desseignes, Camille; Devillard, Françoise; Deville, Manjula; Dewulf-Pasz, Nelly; Dhaenens, Claire-Marie; Dietrich, Klaus; Dieux, Anne; Diop, Mody; Disse, Emmanuel; Djaber, Samir; Cao, Christine Do; Dollfus, Hélène; Domenach, Louis; Donadieu, Jean; Donadille, Bruno; Dougé, Aurore; Dreyfus, Hélène; Drunat, Séverine; Dubois-Laforgue, Danièle; Dubourg, Christèle; Dubucs, Charlotte; Dubus, Jean-Christophe; Duchmann, Matthieu; Ducray, François; Ducrotverdun, Marion; Duffaud, Florence; Duffourd, Yannis; Dufour, William; Duhil de Bénazé, Gwénaëlle; Dulac, Yves; Dunand, Olivier; Dunoyer de Segonzac, Denis; Dupain, Célia; Duployez, Nicolas; Dupré, Anaïs; Dupré, Aurélien; Dupuis-Girod, Sophie; Duquet, Romain; Durand, Alice; Durand, Benjamin; Durand-Zaleski, Isabelle; Durando, Xavier; Durr, Alexandra; Eberst, Lauriane; Edery, Patrick; Egloff, Matthieu; El Chehadeh, Salima; El Khattabi, Laïla; Engel, Camille; Entresangle, Mathilde; Espérou, Hélène; Esselin, Florence; Etancelin, Pascaline; Evrevin, Clémence; Ewenczyk, Claire; Eychene, Alain; Eychenne, Thomas; Ezaru, Andra; Fabry, Vincent; Faivre, Laurence; Faoucher, Marie; Faure, Clémentine; Fauré, Julien; Fauret-Amsellem, Anne-Laure; Feigerlova, Eva; Feillet, François; Fenwarth, Laurène; Férec, Claude; Fergelot, Patricia; Ferrari, Anthony; Ferraro-Peyret, Carole; Feugeas, Jean-Paul; Fieschi, Claire; Fievet, Alice; Fila, Marc; Fillatre, Rémi; Filser, Mathilde; Fin, Bertrand; Fiore, Mathieu; Firmin, Nelly; Flandrin-Gresta, Pascale; Flechon, Aude; Fournier, Benjamin; Fragny, Cécile; Francois-Heude, Marie-Céline; Francou, Bruno; Frébourg, Thierry; Fressart, Véronique; Frétigny, Mathilde; Funalot, Benoit; Fusaro, Mathieu; Gaignard, Pauline; Gandjbakhch, Estelle; Ganne, Benjamin; Garde, Aurore; Gatinois, Vincent; Gaucher, Céline; Gaudillat, Léa; Gaulard, Philippe; Gauthier, Lucas; Gay-Bellile, Mathilde; Geneste, Damien; Geneviève, David; Genin, Emmanuelle; Genoux, Sandrine; Geoerger, Birgit; Geoffroy, Véronique; Georget, Mathieu; Gérard, Bénédicte; Gertych, Witold; Halem, Souad Gherbi; Ghorab, Karima; Gille, Romane; Gillet, Charlène; Gillibert-Yvert, Marion; Gilly, Olivier; Gimenez-Roqueplo, Anne-Paule; Giraud, Sophie; Girerd, Barbara; Girodon, François; Glazunova, Olga; Gobert, Delphine; Goizet, Cyril; Gokce-Samar, Zeynep; Golmard, Lisa; Gomez-Roca, Carlos; Gonzales, Emmanuel; Gorce, Magali; Gorenstein, Marie-Clémence; Gorrichon, Kévin; Gottrand, Frédéric; Gouas, Laetitia; Gourdon, Stéphanie; Gourdy, Pierre; Gouronc, Aurélie; Goursaud, Claire; Gousse, Gaëlle; Gouy, Evan; Goze-Martineau, Odile; Gozlan, Diane; Grabli, David; Gras, Margaux; Grelet, Maude; Gressin, Laetitia; Grivel, Nathalie; Grotto, Sarah; Grouthier, Virginie; Grunenwald, Solange; Grunewald, Olivier; Gueguen, Paul; Guérin, Cécile; Guerrot, Anne-Marie; Guey, Stéphanie; Guffon, Nathalie; Guichet, Agnès; Guièze, Romain; Guillaud-Bataille, Marine; Guillemin, Francis; Guillerm, Erell; Guillermin, Yann; Guillet-Pichon, Virginie; Guillou, Isabelle; Guimbaud, Rosine; Guimier, Anne; Guissart, Claire; Guittet, Eric; Guy, Nathalie; Hadchouel, Alice; Abdallah, Hamza Hadj; Hadj-Rabia, Smail; Hadjadj, Samy; Hage-Sleiman, Mehdi; Haioun, Corinne; Halawi, Sara; Hamza, Abderaouf; Hanau, Perrine; Hanna, Nadine; Harbuz, Radu; Hardy, Gaëlle; Hauspie, Carine; Hayette, Sandrine; Heard, Jean-Michel; Heiblig, Maël; Heide, Solveig; Heidet, Laurence; Henry, Marcia; Hentgen, Véronique; Héron, Bénédicte; Héron, Delphine; Hervé, Dominique; Herzig, Anthony; Hirsch, Pierre; Hommais, Antoine; Honnorat, Jérôme; Horta, Edgar; Houdayer, Claude; Houillier, Pascal; Huet, Sarah; Hugot, Jean-Pierre; Huguenin, Yoann; Humbert, Marc; Humbert-Asensio, Marie-Laure; Huot, Laure; Ifrah, Norbert; Illouz, Frédéric; Imbard, Apolline; Imbert-Bouteille, Marion; Isambert, Nicolas; Isidor, Bertrand; Italiano, Antoine; Itzykson, Raphaël; Jaillard, Sylvie; Jamilloux, Yvan; Janin, Alexandre; Januel, Louis; Javelot-Jacquelin, Cécile; Jeanne, Médéric; Jedraszak, Guillaume; Jéru, Isabelle; Jeunemaitre, Xavier; Jeziorski, Éric; Jobic, Florence; Joly, Philippe; Jonard, Laurence; Jondeau, Guillaume; Jones, Natalie; Jouannic, Jean-Marie; Jouinot, Anne; Jouk, Pierre-Simon; Jourdy, Yohann; Jousselin, Kévin; Jouvenceau, Anne; Jubert, Charlotte; Julia, Sophie; Jurquet, Anne-Laure; Juven, Aurélien; Kamal, Maud; Kantapareddy, Pascal; Kaphan, Elsa; Karayan-Tapon, Lucie; Kasper, Edwige; Kerbellec, Lara; Keren, Boris; Khalifa, Emmanuel; Van Kien, Philippe Khau; Kheddouci, Sihem; Kientz, Caroline; Kim, Rathana; Knapke, Antjie; Koenig, Michel; Kone, Isabelle; Konyukh, Marina; Kormann, Raphaël; Kossorotoff, Manoëlle; Kuentz, Paul; Kyndt, Florence; L'Haridon, Anaïs; Labrune, Philippe; Lackmy, Marilyn; Lacombe, Didier; Lacroix, Ludovic; Laffargue, Fanny; Lahlou, Ghizlene; Laizet, Yec'han; Lambert, Laetitia; Lamoril, Jérôme; Lamouroux, Audrey; Landais, Émilie; Landman, Samuel; Landry, Elise; Lapillonne, Hélène; Lapointe, Anne-Sophie; Larcher, Lise; Lardeux, Pierre; Largeaud, Laetitia; Larger, Etienne; Larrouquere, Louis; Lasolle, Hélène; Lasseaux, Eulalie; Latypova, Xenia; Laurens, Tiphany; Laurent, Camille; Laurent-Puig, Pierre; Lautrette, Géraldine; Lauvray, Thomas; Lavallart, Benoît; Lavenu-Bombled, Cécile; Laverdure, Noémie; Le Bris, Yannick; Le Chalony, Catherine; Le Collen, Lauriane; Le Du, Nathalie; Le Folgoc, Gaëlle; Le Gac, Gerald; Le Gall, Jessica; Le Guillou, Edouard; Le Guillou, Xavier; Le Guyader, Gwenaël; Le Ray, Maryannick; Le Saux, Olivia; Le Tourneau, Christophe; Lebecque, Benjamin; Lebellec, Loïc; Lebigot, Élise; Leblond, Pierre; Leboulanger, Nicolas; Lebras, Laure; Lebre, Anne-Sophie; Lebreton, Louis; Lecoquierre, François; Lefebvre, Mathilde; Legendre, Marine; Leglise, Camille; Legrand, Clémentine; Lehalle, Daphné; Lejeune, Catherine; Lemaitre, Christine; Leman, Raphaël; Lepage, Mathis; Lermine, Alban; Leroy, Karen; Lesca, Gaëtan; Lesieur-Sebellin, Marion; Letexier, Mélanie; Lethimonnier, Franck; Levaillant, Lucie; Levy, Jonathan; Levy, Yves; Lévy, Pascale; Lhermitte, Ludovic; Linglart, Agnès; Lionnet, Clément; Livon, Doriane; Lode, Laurence; Lodin, Magalie; Lopez, Jonathan; Lopez, Maureen; Lortholary, Alain; Louha, Malek; Louvrier, Camille; Ludwig, Thomas E.; Luvet, Auriane; Lyonnet, Stanislas; Makowski, Caroline; Malan, Valérie; Mallaret, Martial; Mallet, Delphine; Mallet, Stéphanie; Malphettes, Marion; Manaud, Nathalie; Mancini, Pierre; Manfredi, Sylvain; Manouvrier, Sylvie; Mansard, Luke; Mansard, Sandrine; Mansour-Hendili, Lamisse; Mansuy, Ludovic; Maquet, Julien; Marçais, Ambroise; Marceau-Renaut, Alice; Marec-Berard, Perrine; Marelli, Cécilia; Marenne, Gaëlle; Marey, Isabelle; Margier, Jennifer; Margot, Henri; Marie, Guillaume; Marin, Victor; Marisa, Laetitia; Marlin, Sandrine; Marquant, Émeline; Marquet, Valentine; Marsili, Luisa; Martin, Amaury; Martinerie, Laetitia; Maruani, Anna; Marzin, Pauline; Massard, Christophe; Masson, Emmanuelle; Mathieu, Flavie; Mathieu, Marion; Mathoulin-Pelissier, Simone; Matthieu, Flore; Mauras, Mathilde; Maureille, Aurélien; Mazel, Benoit; Mazeres, Mary; Leer, Anne Mc; Melki, Isabelle; Menassa, Rita; Méneret, Aurélie; Menjard, Julie; Mercier, Anne; Merieau, Elodie; Merlin, Marie-Sophie; Merlio, Jean-Philippe; Meslier, Cécile; Mesnard, Laurent; Mestre-Godin, Sandrine; Metay, Corinne; Meunier, Sandrine; Meyer, Pierre; Meyer, Vincent; Michaud, Vincent; Michel-Calemard, Laurence; Mignot, Cyril; Miguet, Marguerite; Millat, Gilles; Mirault, Tristan; Miron de l'Espinay, Albane; Misrahi, Micheline; Molac, Clémence; Molin, Arnaud; Mondet, Julie; Monin, Faustine; Monin, Pauline; Monneur, Audrey; Monnot, Sophie; Montani, David; Morel, Elodie; Morel, Godelieve; Morel, Valérie; Moretta, Jessica; Morice-Picard, Fanny; Morillon, Lucie; Morin, Carole; Morin-Meschin, Marie-Emmanuelle; Morlat, Philippe; Moshous, Despina; Mouret-Fourme, Emmanuelle; Moussy, Alice; Moutton, Sébastien; Mouzat, Kévin; Muletier, Romane; Muller, Jean; Muller, Marie; Nadaj-Pakleza, Aleksandra; Naibo, Pierre; Nambot, Sophie; Nathan, Nadia; Nava, Caroline; Nectoux, Juliette; Netter, Jeanne; Neumann, Florent; Neveu, Julien; Nevière, Zoé; Nguyen, Laetitia; Niclass, Tanguy; Nicolas, Gaël; Nicolas, Laury; Ningarhari, Massih; Nogues, Catherine; Novello, Cécile; Nowak, Frédérique; Odent, Sylvie; Odou, Marie-Françoise; Olaso, Robert; Otmani, Sarah; Ovaert, Caroline; Pacot, Laurence; Pages, Mélanie; Paillard, Catherine; Palmyre, Aurélien; Panagiotakaki, Eleni; Pannard, Myriam; Paoletti, Anne; Papadopoulou, Maria T.; Papathanasiou, Matthildi; Paquis, Véronique; Parfait, Béatrice; Paris, Camille; Paris, Clara; Paris, Françoise; Pasmant, Éric; Pasquet, Marlène; Passet, Marie; Pastoret, Cédric; Patat, Olivier; Patay, Léa; Paul, Antoine; Pebrel-Richard, Céline; Peduto, Cristina; Peffault de Latour, Regis; Pegat, Antoine; Pelletier, Annick; Pelletier, Valérie; Pellisson, Fanny; Pennamen, Perrine; Pennisi, Alessandra; Pereira, Victor; Pernin-Grandjean, Julie; Péron, Julien; Perrier, Alexandre; Perrier, Lionel; Perrin, Laurence; Perthus, Isabelle; Petit, Arnaud; Petit, Audrey; Petit, Florence; Petit, François; Petrov, Yuliya; Peyre, Hugo; Philippe, Christophe; Piard, Juliette; Pierre-Noël, Élise; Pierron, Gaëlle; Pimouguet, Clément; Pingault, Véronique; Pinson, Stéphane; Pion, Emmanuelle; Pisan, Élise; Plaisancié, Julie; Planes, Marc; Planté-Bordeneuve, Pauline; Plas, William; Plutino, Morgane; Poignie, Ludivine; Poinsignon, Vianney; Poirée, Marilyne; Pons, Nicolas; Pontier, Bénédicte; Porquet-Bordes, Valérie; Porteret, Camille; Potier, Delphine; Potier, Louis; Pouessel, Damien; Poujade, Laura; Preau, Marie; Preudhomme, Claude; Prieur, Fabienne; Probst, Vincent; Procaccio, Vincent; Prot-Bertoye, Caroline; Prunier, Delphine; Puechberty, Jacques; Pujalte, Mathilde; Qebibo, Leila; Quemener-Redon, Sylvia; Quérée, Isabelle; Quijano-Roy, Susana; Quirin, Nicolas; Racine, Caroline; Raimbault, Sandra; Raimbourg, Judith; Rajaoba, Marine; Rambaud, Thomas; Ramirez, Carole; Ramond, Francis; Ranguin, Kara; Rausell, Antonio; Ravel, Jean-Marie; Ravelli, Claudia; Raverot, Gerald; Ray-Coquard, Isabelle; Raynal, Caroline; Réant, Patricia; Rebours, Vinciane; Redon, Richard; Réguerre, Yves; Reix, Philippe; Renard, Cécile; Renaud, Mathilde; Rendu, John; Renoux, Céline; Rey, Romain; Reynaud, Rachel; Rhinan, Lucie; Riant, Florence; Riccardi, Florence; Richard, Pascale; Ricou, Agathe; Rigalleau, Vincent; Rio, Marlène; Rivière, Axelle; Robelin, Patrick; Robert, Marion; Robert, Thomas; Rohmer, Barbara; Romanet, Pauline; Romoli, Arnaud; Rondeau, Sophie; Rooryck, Caroline; Roquelaure, Bertrand; Rosain, Jérémie; Rossi, Massimiliano; Rossignol, Sylvie; Rothenbuhler, Anya; Rouel, Nadège; Rouillon, Marine; Rouleau, Etienne; Roux, Anne-Françoise; Roux-Buisson, Nathalie; Rouzier, Cécile; Roze, Emmanuel; Ruaud, Lyse; Ruault, Valentin; Ruysschaert, Claire; Saada, Esma; Saadi - Ait El Mkadem, Samira; Saandi, Thoueiba; Sabour, Niki; Sacconi, Sabrina; Saffroy, Raphaël; Safraou, Hana; Saillour, Virginie; Pierre, Aude Saint; Saint-Martin, Cécile; Saintigny, Pierre; Salaun, Gaëlle; Salgado, David; Salle, Laurence; Samuel, Didier; Sandron, Florian; Sanlaville, Damien; Sapey-Triomphe, Laure; Sarnacki, Sabine; Sarrazin, Elisabeth; Sarret, Catherine; Satre, Véronique; Saugier-Veber, Pascale; Saultier, Paul; Saumet, Laure; Scarpelli, Claude; Schaefer, Élise; Scheyer, Nicolas; Schiff, Isabelle; Schiff, Manuel; Schleiermacher, Gudrun; Schleinitz, Nicolas; Schluth-Bolard, Caroline; Schneider, Anouck; Schwartz, Bertrand; Sebaoun, Jean-Marc; Serey-Gaut, Margaux; Serrier, Hassan; Servais, Aude; Serveaux-Dancer, Marine; Sevenet, Nicolas; Seyve, Antoine; Sibony-Cohen, Alicia; De Fontbrune, Flore Sicre; Sigaudy, Sabine; Sigaux, François; Simaga, Fatoumata; Simmet, Victor; Simon, Pauline; Simon, Sophie; Sirveaux, François; Smol, Thomas; Solé, Guilhem; Soler, Gwendoline; Solignac, Pauline; Soriani, Marie-Hélène; Soubeyran, Isabelle; Soulier, Jean; Spelle, Laurent; Sperelakis-Beedham, Brian; Spinazzi, Marco; Spodenkiewicz, Marta; Spraul, Anne; Squiban, Barbara; Srikaran, Arunya; Steffann, Julie; Stetco, Anamaria; Stoeva, Radka; Stojkovic, Tanya; Stoppa-Lyonnet, Dominique; Suarez, Felipe; Sujobert, Pierre; Svahn, Juliette; Ta, Minh-Chau; Tabet, Anne-Claude; Tachon, Gaëlle; Tallegas, Matthias; Tallet, Anne; Tambourin, Pierre-Edmond; Tandonnet, Julie; Tardy, Véronique; Tavernier, Emmanuelle; Tchernitchko, Dimitri; Teillon-Berranger, Marie-Hélène; Tenenbaum, Julie; Teoli, Jordan; Tessarech, Marine; Tessoulin, Benoit; Tharreau, Mylène; Thauvin-Robinet, Christel; Theou-Anton, Nathalie; Thevenon, Julien; Thomas, Anne; Thomas, Laure; Thomas, Quentin; Thomas-Teinturier, Cécile; Tieulie, Nathalie; Tinat, Julie; Tlemsani, Camille; Tondeur, Sylvie; Tosca, Lucie; Tosi, Diego; Tougeron, David; Touraine, Philippe; Tournier-Lasserve, Elisabeth; Toutain, Annick; Mau-Them, Frédéric Tran; Tranchant, Christine; Trédan, Olivier; Trimouille, Aurélien; Trochu, Jean-Noël; Tronel, Vincent; Trouba, Cécile; Truchetet, Marie-Élise; Truffaux, Nathalène; Tsalamlal, Amel; Turlotte, Edouard; Turon, Violette; Tusseau, Maud; Uhrhammer, Nancy; Vaché, Christel; Valence, Stéphanie; Valentin, Thibaud; Valero, René; Valleix, Sophie; Vallet, Marion; Vanacker, Hélène; Vande-Perre, Pierre; Vandenbrouck, Yves; Vanlerberghe, Clémence; Vargas-Poussou, Rosa; Vatier, Camille; Vauchel, Vincent; Vaur, Dominique; Velo-Suarez, Lourdes; Venat, Laurence; Vera, Gabriella; Verebi, Camille; Verley, Célia; Verlingue, Loïc; Verny, Christophe; Veronese, Lauren; Verotte, Nelly; Verret, Benjamin; Vial, Yoann; Vialard, François; Viari, Alain; Vidailhet, Marie; Vidaud, Dominique; Vidaud, Michel; Vignes, Stéphane; Vigouroux, Clothilde; Vigouroux, Corinne; Villard, Laurent; Villeneuve, Laurent; Villié, Patricia; Villy, Marie-Charlotte; Vinauger, Lara; Vinceneux, Armelle; Vincenot, Anne; Vinciguerra, Christine; Vitobello, Antonio; Vourc'h, Patrick; Vozy, Aurore; Vuillaume-Winter, Marie-Laure; Vuillaumier-Barrot, Sandrine; Wahbi, Karim; Wallet, Cédrick; Walter, Thomas; Walther-Louvier, Ulrike; Watson, Sarah; Waymel, Anne-Christine; Weinhard, Sara; Wiart, Nicolas; Wicker, Camille; Willems, Marjolaine; Wirth, Thomas; Wourms, Justine; Wyrebski, Antoine; Yauy, Kévin; Zaidan, Mohamad; Zaloszyc, Ariane; Zattara, Hélène; Zawadzki, Christophe; Ziegler, Alban
In The Lancet Regional Health - Europe March 2025 50
Academic Journal
Maimuna S. Paul; Sydney L. Michener; Hongling Pan; Hiuling Chan; Jessica M. Pfliger; Jill A. Rosenfeld; Vanesa C. Lerma; Alyssa Tran; Megan A. Longley; Richard A. Lewis; Monika Weisz-Hubshman; Mir Reza Bekheirnia; Nasim Bekheirnia; Lauren Massingham; Michael Zech; Matias Wagner; Hartmut Engels; Kirsten Cremer; Elisabeth Mangold; Sophia Peters; Jessica Trautmann; Claudia Perne; Jessica L. Mester; Maria J. Guillen Sacoto; Richard Person; Pamela P. McDonnell; Stacey R. Cohen; Laina Lusk; Ana S.A. Cohen; Jean-Baptiste Le Pichon; Tomi Pastinen; Dihong Zhou; Kendra Engleman; Caroline Racine; Laurence Faivre; Sébastien Moutton; Anne-Sophie Denommé-Pichon; Hyun Yong Koh; Annapurna Poduri; Jeffrey Bolton; Cordula Knopp; Dong Sun Julia Suh; Andrea Maier; Mehran Beiraghi Toosi; Ehsan Ghayoor Karimiani; Reza Maroofian; Gerald Bradley Schaefer; Vijayalakshmi Ramakumaran; Pradeep Vasudevan; Benito Banos-Pinero; Alistair T. Pagnamenta; Chitra Prasad; Matthew Osmond; Sarah Schuhmann; Georgia Vasileiou; Sophie Russ-Hall; Ingrid E. Scheffer; Gemma L. Carvill; Heather Mefford; Maria T. Acosta; Margaret Adam; David R. Adams; Raquel L. Alvarez; Justin Alvey; Laura Amendola; Ashley Andrews; Euan A. Ashley; Carlos A. Bacino; Guney Bademci; Ashok Balasubramanyam; Dustin Baldridge; Jim Bale; Michael Bamshad; Deborah Barbouth; Pinar Bayrak-Toydemir; Anita Beck; Alan H. Beggs; Edward Behrens; Gill Bejerano; Hugo J. Bellen; Jimmy Bennett; Beverly Berg-Rood; Jonathan A. Bernstein; Gerard T. Berry; Anna Bican; Stephanie Bivona; Elizabeth Blue; John Bohnsack; Devon Bonner; Lorenzo Botto; Brenna Boyd; Lauren C. Briere; Gabrielle Brown; Elizabeth A. Burke; Lindsay C. Burrage; Manish J. Butte; Peter Byers; William E. Byrd; John Carey; Olveen Carrasquillo; Thomas Cassini; Ta Chen Peter Chang; Sirisak Chanprasert; Hsiao-Tuan Chao; Ivan Chinn; Gary D. Clark; Terra R. Coakley; Laurel A. Cobban; Joy D. Cogan; Matthew Coggins; F. Sessions Cole; Heather A. Colley; Heidi Cope; Rosario Corona; William J. Craigen; Andrew B. Crouse; Michael Cunningham; Precilla D’Souza; Hongzheng Dai; Surendra Dasari; Joie Davis; Jyoti G. Dayal; Esteban C. Dell'Angelica; Katrina Dipple; Daniel Doherty; Naghmeh Dorrani; Argenia L. Doss; Emilie D. Douine; Dawn Earl; David J. Eckstein; Lisa T. Emrick; Christine M. Eng; Marni Falk; Elizabeth L. Fieg; Paul G. Fisher; Brent L. Fogel; Irman Forghani; William A. Gahl; Ian Glass; Bernadette Gochuico; Page C. Goddard; Rena A. Godfrey; Katie Golden-Grant; Alana Grajewski; Don Hadley; Sihoun Hahn; Meghan C. Halley; Rizwan Hamid; Kelly Hassey; Nichole Hayes; Frances High; Anne Hing; Fuki M. Hisama; Ingrid A. Holm; Jason Hom; Martha Horike-Pyne; Alden Huang; Sarah Hutchison; Wendy Introne; Rosario Isasi; Kosuke Izumi; Fariha Jamal; Gail P. Jarvik; Jeffrey Jarvik; Suman Jayadev; Orpa Jean-Marie; Vaidehi Jobanputra; Lefkothea Karaviti; Shamika Ketkar; Dana Kiley; Gonench Kilich; Shilpa N. Kobren; Isaac S. Kohane; Jennefer N. Kohler; Susan Korrick; Mary Kozuira; Deborah Krakow; Donna M. Krasnewich; Elijah Kravets; Seema R. Lalani; Byron Lam; Christina Lam; Brendan C. Lanpher; Ian R. Lanza; Kimberly LeBlanc; Brendan H. Lee; Roy Levitt; Pengfei Liu; Xue Zhong Liu; Nicola Longo; Sandra K. Loo; Joseph Loscalzo; Richard L. Maas; Ellen F. Macnamara; Calum A. MacRae; Valerie V. Maduro; Audrey Stephannie Maghiro; Rachel Mahoney; May Christine V. Malicdan; Laura A. Mamounas; Teri A. Manolio; Rong Mao; Kenneth Maravilla; Ronit Marom; Gabor Marth; Beth A. Martin; Martin G. Martin; Julian A. Martínez-Agosto; Shruti Marwaha; Jacob McCauley; Allyn McConkie-Rosell; Alexa T. McCray; Elisabeth McGee; J. Lawrence Merritt; Matthew Might; Ghayda Mirzaa; Eva Morava; Paolo Moretti; John Mulvihill; Mariko Nakano-Okuno; Stanley F. Nelson; John H. Newman; Sarah K. Nicholas; Deborah Nickerson; Shirley Nieves-Rodriguez; Donna Novacic; Devin Oglesbee; James P. Orengo; Laura Pace; Stephen Pak; J. Carl Pallais; Christina G.S. Palmer; Jeanette C. Papp; Neil H. Parker; John A. Phillips III; Jennifer E. Posey; Lorraine Potocki; Barbara N. Pusey Swerdzewski; Aaron Quinlan; Deepak A. Rao; Anna Raper; Wendy Raskind; Genecee Renteria; Chloe M. Reuter; Lynette Rives; Amy K. Robertson; Lance H. Rodan; Natalie Rosenwasser; Francis Rossignol; Maura Ruzhnikov; Ralph Sacco; Jacinda B. Sampson; Mario Saporta; Judy Schaechter; Timothy Schedl; Kelly Schoch; Daryl A. Scott; C. Ron Scott; Elaine Seto; Vandana Shashi; Jimann Shin; Edwin K. Silverman; Janet S. Sinsheimer; Kathy Sisco; Edward C. Smith; Kevin S. Smith; Lilianna Solnica-Krezel; Ben Solomon; Rebecca C. Spillmann; Joan M. Stoler; Kathleen Sullivan; Jennifer A. Sullivan; Angela Sun; Shirley Sutton; David A. Sweetser; Virginia Sybert; Holly K. Tabor; Queenie K.-G. Tan; Amelia L.M. Tan; Arjun Tarakad; Mustafa Tekin; Fred Telischi; Willa Thorson; Cynthia J. Tifft; Camilo Toro; Alyssa A. Tran; Rachel A. Ungar; Tiina K. Urv; Adeline Vanderver; Matt Velinder; Dave Viskochil; Tiphanie P. Vogel; Colleen E. Wahl; Melissa Walker; Stephanie Wallace; Nicole M. Walley; Jennifer Wambach; Jijun Wan; Lee-kai Wang; Michael F. Wangler; Patricia A. Ward; Daniel Wegner; Monika Weisz Hubshman; Mark Wener; Tara Wenger; Monte Westerfield; Matthew T. Wheeler; Jordan Whitlock; Lynne A. Wolfe; Kim Worley; Changrui Xiao; Shinya Yamamoto; John Yang; Zhe Zhang; Stephan Zuchner
Am. J. Hum. Genet. 111, 96-118 (2024)
Academic Journal
van der Sluijs, Pleuntje J. ; Moutton, Sébastien ; Dingemans, Alexander J.M. ; Weis, Denisa ; Levy, Michael A. ; Boycott, Kym M. ; Arberas, Claudia ; Baldassarri, Margherita ; Beneteau, Claire ; Brusco, Alfredo ; Coutton, Charles ; Dabir, Tabib ; Dentici, Maria L. ; Devriendt, Koenraad ; Faivre, Laurence ; van Haelst, Mieke M. ; Jizi, Khadije ; Kempers, Marlies J. ; Kerkhof, Jennifer ; Kharbanda, Mira ; Lachlan, Katherine ; Marle, Nathalie ; McConkey, Haley ; Mencarelli, Maria A. ; Mowat, David. ; Niceta, Marcello ; Nicolas, Claire ; Novelli, Antonio ; Orlando, Valeria ; Pichon, Olivier ; Rankin, Julia ; Relator, Raissa. ; Ropers, Fabienne G. ; Rosenfeld, Jill A. ; Sachdev, Rani ; Sandaradura, Sarah A. ; Shukarova-Angelovska, Elena ; Steenbeek, Duco ; Tartaglia, Marco ; Tedder, Matthew A. ; Trajkova, Slavica ; Winer, Norbert ; Woods, Jeremy ; de Vries, Bert B.A. ; Sadikovic, Bekim ; Alders, Marielle ; Santen, Gijs W.E.
In Genetics in Medicine January 2025 27(1)
Academic Journal
Viora-Dupont, Eléonore; Robert, Françoise; Chassagne, Aline; Pélissier, Aurore; Staraci, Stéphanie; Sanlaville, Damien; Edery, Patrick; Lesca, Gaetan; Putoux, Audrey; Pons, Linda; Cadenes, Amandine; Baurand, Amandine; Sawka, Caroline; Bertolone, Geoffrey; Spetchian, Myrtille; Yousfi, Meriem; Salvi, Dominique; Gautier, Elodie; Vitobello, Antonio; Denommé-Pichon, Anne-Sophie; Bruel, Ange-Line; Tran Mau-Them, Frédéric; Faudet, Anne; Keren, Boris; Labalme, Audrey; Chatron, Nicolas; Abel, Carine; Dupuis-Girod, Sophie; Poisson, Alice; Buratti, Julien; Mignot, Cyril; Afenjar, Alexandra; Whalen, Sandra; Charles, Perrine; Heide, Solveig; Mouthon, Linda; Moutton, Sébastien; Sorlin, Arthur; Nambot, Sophie; Briffaut, Anne-Sophie; Asensio, Marie-Laure; Philippe, Christophe; Thauvin-Robinet, Christel; Héron, Delphine; Rossi, Massimiliano; Meunier-Bellard, Nicolas; Gargiulo, Marcela; Peyron, Christine; Binquet, Christine; Faivre, Laurence
European Journal of Human Genetics. 32(9):1166-1183
Academic Journal
Amytice Mirchi; Simon-Pierre Guay; Luan T. Tran; Nicole I. Wolf; Adeline Vanderver; Bernard Brais; Michel Sylvain; Daniela Pohl; Elsa Rossignol; Michael Saito; Sébastien Moutton; Luis González‐Gutiérrez‐Solana; Isabelle Thiffault; Michael C. Kruer; Dolores Gonzales Moron; Marcelo A. Kauffman; Cyril Goizet; Lāszló Sztriha; Emma Glamuzina; Serge B. Melançon; Sakkubai Naidu; Jean‐Marc Retrouvey; Suzanne Lacombe; Beatriz Bernardino-Cuesta; Isabelle De Bie; Geneviève Bernard
J Med Genet
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Mirchi, A, Guay, S P, Tran, L T, Wolf, N I, Vanderver, A, Brais, B, Sylvain, M, Pohl, D, Rossignol, E, Saito, M,Moutton , S, González-Gutiérrez-Solana, L, Thiffault, I, Kruer, M C, Moron, D G, Kauffman, M, Goizet, C, Sztriha, L, Glamuzina, E, Melançon, S B, Naidu, S, Retrouvey, J M, Lacombe, S, Bernardino-Cuesta, B, De Bie, I & Bernard, G 2023, 'Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C', Journal of Medical Genetics, vol. 60, no. 10, pp. 1026-1034. https://doi.org/10.1136/jmg-2023-109223
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Mirchi, A, Guay, S P, Tran, L T, Wolf, N I, Vanderver, A, Brais, B, Sylvain, M, Pohl, D, Rossignol, E, Saito, M,
Academic Journal
Lecoquierre, François ; Punt, A. Mattijs ; Ebstein, Frédéric ; Wallaard, Ilse ; Verhagen, Rob ; Studencka-Turski, Maja ; Duffourd, Yannis ; Moutton, Sébastien ; Tran Mau-Them, Frédédic ; Philippe, Christophe ; Dean, John ; Tennant, Stephen ; Brooks, Alice S. ; van Slegtenhorst, Marjon A. ; Jurgens, Julie A. ; Barry, Brenda J. ; Chan, Wai-Man ; England, Eleina M. ; Martinez Ojeda, Mayra ; Engle, Elizabeth C. ; Robson, Caroline D. ; Morrow, Michelle ; Innes, A. Micheil ; Lamont, Ryan ; Sanderson, Matthea ; Krüger, Elke ; Thauvin, Christel ; Distel, Ben ; Faivre, Laurence ; Elgersma, Ype ; Vitobello, Antonio
In Genetics in Medicine June 2024 26(6)
Academic Journal
Nicolas BOURGON; Christel Thauvin-Robinet; Aurore Garde; Maud FAVIER; Julian Delanne; Caroline Racine; thierry rousseau; Sophie Nambot; Ange-Line Bruel; Sébastien MOUTTON; Chloé Quelin; Cindy COLSON; Anne-Claire BREHIN; Anne-Marie Guerrot; Caroline Rooryck; Audrey Putoux; Patricia Blanchet; Sylvie Odent; Elise Schaefer; Odile Boute; Alice Goldenberg; Agnès Guichet; Carine Abel; Godelieve MOREL; Mélanie FRADIN; Bertrand Isidor; Marie Vincent; Christine Francannet; Gabriella Vera; Florence Petit; Mathilde Nizon; Constance Wells; Médéric Jeanne; Caroline DEILLET; Alban ZIEGLER; Manon GODIN; Pascale SAUGIER-VEBER; Kévin Cassinari; Pierre Blanc; Emmanuel Simon; Christine Binquet; Yannis Duffourd; Hana Safraou; Anne-Sophie Denommé-Pichon; Antonio Vitobello; Christophe Philippe; Laurence Faivre; Frédéric Tran-Mau-Them; Nicolas Bourgon
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
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
Delanne, Julian ; Bruel, Ange-Line ; Huet, Frédéric ; Moutton, Sébastien ; Nambot, Sophie ; Grisval, Margot ; Houcinat, Nada ; Kuentz, Paul ; Sorlin, Arthur ; Callier, Patrick ; Jean-Marcais, Nolwenn ; Mosca-Boidron, Anne-Laure ; Mau-Them, Frédéric Tran ; Denommé-Pichon, Anne-Sophie ; Vitobello, Antonio ; Lehalle, Daphné ; 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, Véronique ; Fatus-Fauconnier, Clémence ; Gay, Sébastien ; Bournez, Marie ; Masurel, Alice ; Leguy, Vanessa ; Duffourd, Yannis ; Philippe, Christophe ; Feillet, François ; Faivre, Laurence ; Thauvin-Robinet, Christel
In Molecular Genetics and Metabolism Reports December 2021 29
Academic Journal
Emilie Tisserant; Antonio Vitobello; Davide Callegarin; Simon Verdez; Ange‐line Bruel; Ludwig Serge Aho Glele; Arthur Sorlin; Eleonore Viora‐Dupont; Marina Konyukh; Nathalie Marle; Sophie Nambot; Sébastien Moutton; Caroline Racine; Aurore Garde; Julian Delanne; Frédéric Tran‐Mau‐Them; Christophe Philippe; Paul Kuentz; Marlène Poulleau; Muriel Payet; Charlotte Poe; Christel Thauvin‐Robinet; Laurence Faivre; Anne‐Laure Mosca‐Boidron; Julien Thevenon; Yannis Duffourd; Patrick Callier
Annals of Human Genetics. 86:171-180
Academic Journal
Emmanuelle Szenker-Ravi; Tim Ott; Muznah Khatoo; Anne Moreau de Bellaing; Wei Xuan Goh; Yan Ling Chong; Anja Beckers; Darshini Kannesan; Guillaume Louvel; Priyanka Anujan; Vydianathan Ravi; Carine Bonnard; Sébastien Moutton; Patric Schoen; Mélanie Fradin; Estelle Colin; André Megarbane; Linda Daou; Ghassan Chehab; Sylvie Di Filippo; Caroline Rooryck; Jean-François Deleuze; Anne Boland; Nicolas Arribard; Rukiye Eker; Sumanty Tohari; Alvin Yu-Jin Ng; Marlène Rio; Chun Teck Lim; Birgit Eisenhaber; Frank Eisenhaber; Byrappa Venkatesh; Jeanne Amiel; Hugues Roest Crollius; Christopher T. Gordon; Achim Gossler; Sudipto Roy; Tania Attie-Bitach; Martin Blum; Patrice Bouvagnet; Bruno Reversade
Nature Genetics. 54:62-72
Academic Journal
Coolen, Marion ; Altin, Nami ; Rajamani, Karthyayani ; Pereira, Eva ; Siquier-Pernet, Karine ; Puig Lombardi, Emilia ; Moreno, Nadjeda ; Barcia, Giulia ; Yvert, Marianne ; Laquerrière, Annie ; Pouliet, Aurore ; Nitschké, Patrick ; Boddaert, Nathalie ; Rausell, Antonio ; Razavi, Féréchté ; Afenjar, Alexandra ; Billette de Villemeur, Thierry ; Al-Maawali, Almundher ; Al-Thihli, Khalid ; Baptista, Julia ; Beleza-Meireles, Ana ; Garel, Catherine ; Legendre, Marine ; Gelot, Antoinette ; Burglen, Lydie ; Moutton, Sébastien ; Cantagrel, Vincent
In The American Journal of Human Genetics 5 May 2022 109(5):909-927
Academic Journal
Stephenson, Sarah E.M. ; Costain, Gregory ; Blok, Laura E.R. ; Silk, Michael A. ; Nguyen, Thanh Binh ; Dong, Xiaomin ; Alhuzaimi, Dana E. ; Dowling, James J. ; Walker, Susan ; Amburgey, Kimberly ; Hayeems, Robin Z. ; Rodan, Lance H. ; Schwartz, Marc A. ; Picker, Jonathan ; Lynch, Sally A. ; Gupta, Aditi ; Rasmussen, Kristen J. ; Schimmenti, Lisa A. ; Klee, Eric W. ; Niu, Zhiyv ; Agre, Katherine E. ; Chilton, Ilana ; Chung, Wendy K. ; Revah-Politi, Anya ; Au, P.Y. Billie ; Griffith, Christopher ; Racobaldo, Melissa ; Raas-Rothschild, Annick ; Ben Zeev, Bruria ; Barel, Ortal ; Moutton, Sebastien ; Morice-Picard, Fanny ; Carmignac, Virginie ; Cornaton, Jenny ; Marle, Nathalie ; Devinsky, Orrin ; Stimach, Chandler ; Wechsler, Stephanie Burns ; Hainline, Bryan E. ; Sapp, Katie ; Willems, Marjolaine ; Bruel, Ange-line ; Dias, Kerith-Rae ; Evans, Carey-Anne ; Roscioli, Tony ; Sachdev, Rani ; Temple, Suzanna E.L. ; Zhu, Ying ; Baker, Joshua J. ; Scheffer, Ingrid E. ; Gardiner, Fiona J. ; Schneider, Amy L. ; Muir, Alison M. ; Mefford, Heather C. ; Crunk, Amy ; Heise, Elizabeth M. ; Millan, Francisca ; Monaghan, Kristin G. ; Person, Richard ; Rhodes, Lindsay ; Richards, Sarah ; Wentzensen, Ingrid M. ; Cogné, Benjamin ; Isidor, Bertrand ; Nizon, Mathilde ; Vincent, Marie ; Besnard, Thomas ; Piton, Amelie ; Marcelis, Carlo ; Kato, Kohji ; Koyama, Norihisa ; Ogi, Tomoo ; Goh, Elaine Suk-Ying ; Richmond, Christopher ; Amor, David J. ; Boyce, Jessica O. ; Morgan, Angela T. ; Hildebrand, Michael S. ; Kaspi, Antony ; Bahlo, Melanie ; Friðriksdóttir, Rún ; Katrínardóttir, Hildigunnur ; Sulem, Patrick ; Stefánsson, Kári ; Björnsson, Hans Tómas ; Mandelstam, Simone ; Morleo, Manuela ; Mariani, Milena ; Scala, Marcello ; Accogli, Andrea ; Torella, Annalaura ; Capra, Valeria ; Wallis, Mathew ; Jansen, Sandra ; Waisfisz, Quinten ; de Haan, Hugoline ; Sadedin, Simon ; Lim, Sze Chern ; White, Susan M. ; Ascher, David B. ; Schenck, Annette ; Lockhart, Paul J. ; Christodoulou, John ; Tan, Tiong Yang
In The American Journal of Human Genetics 7 April 2022 109(4):601-617
검색 결과 제한하기
제한된 항목
[검색어] Sébastien Moutton
발행연도 제한
-
학술DB(Database Provider)
저널명(출판물, Title)
출판사(Publisher)
자료유형(Source Type)
주제어
언어