학술논문
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'학술논문'
에서 검색결과 107건 | 목록
1~20
Academic Journal
Cortés-González, Vianney; Rodriguez-Morales, Miguel; Ataliotis, Paris; Mayer, Claudine; Plaisancié, Julie; Chassaing, Nicolas; Lee, Hane; Rozet, Jean-Michel; Cavodeassi, Florencia; Fares Taie, Lucas
Hum Genet
Academic Journal
Andrea Zanetti; Gwendal Dujardin; Lucas Fares-Taie; Jeanne Amiel; Jérôme E. Roger; Isabelle Audo; Matthieu P. Robert; Pierre David; Vincent Jung; Nicolas Goudin; Ida Chiara Guerrera; Stéphanie Moriceau; Danielle Amana; Nurit Assia Batzir; Anat Bachar-Zipori; Lina Basel Salmon; Nathalie Boddaert; Sylvain Briault; Ange-Line Bruel; Christine Costet-Fighiera; Luisa Coutinho Santos; Cyril Gitiaux; Karolina Kaminska; Paul Kuentz; Naama Orenstein; Nicole Philip-Sarles; Morgane Plutino; Mathieu Quinodoz; Cristina Santos; Sabine Sigaudy; Mariana Soeiro e Sá; Efrat Sofrin; Ana Berta Sousa; Rui Sousa-Luis; Christel Thauvin-Robinet; Erwin L. van Dijk; Khaoula Zaafrane-Khachnaoui; Dinah Zur; Josseline Kaplan; Carlo Rivolta; Jean-Michel Rozet; Isabelle Perrault
Nature Communications, Vol 15, Iss 1, Pp 1-20 (2024)
Academic Journal
Erjavec, Elisa ; Angée, Clémentine ; Hadjadj, Djihad ; Passet, Bruno ; David, Pierre ; Kostic, Corinne ; Dodé, Emmanuel ; Zanlonghi, Xavier ; Cagnard, Nicolas ; Nedelec, Brigitte ; Crippa, Sylvain V. ; Bole-Feysot, Christine ; Zarhrate, Mohammed ; Creuzet, Sophie ; Castille, Johan ; Vilotte, Jean-Luc ; Calvas, Patrick ; Plaisancié, Julie ; Chassaing, Nicolas ; Kaplan, Josseline ; Rozet, Jean-Michel ; Fares Taie, Lucas
In The American Journal of Human Genetics 3 October 2024 111(10):2265-2282
Academic Journal
Bouasker, Samir; Patel, Nisha; Greenlees, Rebecca; Wellesley, Diana; Fares Taie, Lucas; Almontashiri, Naif; Baptista, Julia; Alghamdi, Malak Ali; Boissel, Sarah; Martinovic, Jelena; Prokudin, Ivan; Holden, Samantha; Mudhar, Hardeep-Singh; Riley, Lisa; Nassif, Christina; Attie-Bitach, Tania; Miguet, Marguerite; Delous, Marion; Ernest, Sylvain; Plaisancié, Julie; Calvas, Patrick; Rozet, Jean-Michel; Khan, Arif; Hamdan, Fadi; Jamieson, Robyn; Alkuraya, Fowzan; Michaud, Jacques; Chassaing, Nicolas
Journal of Medical Genetics. 60:294-300
Academic Journal
Chesneau, Bertrand; Calvas, Patrick; Cassagne, Myriam; Varenne, Fanny; Rozet, Jean‐michel; Bonneville, Fabrice; Chassaing, Nicolas; Fournié, Pierre; Fares-Taie, Lucas; Plaisancié, Julie
American Journal of Medical Genetics Part A. 194
Academic Journal
Dodd, Daniel O.; Mechaussier, Sabrina; Yeyati, Patricia L.; McPhie, Fraser; Anderson, Jacob R.; Khoo, Chen Jing; Shoemark, Amelia; Gupta, Deepesh K.; Attard, Thomas; Zariwala, Maimoona A.; Legendre, Marie; Bracht, Diana; Wallmeier, Julia; Gui, Miao; Fassad, Mahmoud R.; Parry, David A.; Tennant, Peter A.; Meynert, Alison; Wheway, Gabrielle; Fares-Taie, Lucas; Black, Holly A.; Mitri-Frangieh, Rana; Faucon, Catherine; Kaplan, Josseline; Patel, Mitali; McKie, Lisa; Megaw, Roly; Gatsogiannis, Christos; Mohamed, Mai A.; Aitken, Stuart; Gautier, Philippe; Reinholt, Finn R.; Hirst, Robert A.; O’Callaghan, Chris; Heimdal, Ketil; Bottier, Mathieu; Escudier, Estelle; Crowley, Suzanne; Descartes, Maria; Jabs, Ethylin W.; Kenia, Priti; Amiel, Jeanne; Bacci, Giacomo Maria; Calogero, Claudia; Palazzo, Viviana; Tiberi, Lucia; Blümlein, Ulrike; Rogers, Andrew; Wambach, Jennifer A.; Wegner, Daniel J.; Fulton, Anne B.; Kenna, Margaret; Rosenfeld, Margaret; Holm, Ingrid A.; Quigley, Alan; Hall, Emma A.; Murphy, Laura C.; Cassidy, Diane M.; von Kriegsheim, Alex; Papon, Jean-François; Pasquier, Laurent; Murris, Marlène S.; Chalmers, James D; Hogg, Claire; Macleod, Kenneth A.; Urquhart, Don S.; Unger, Stefan; Aitman, Timothy J.; Amselem, Serge; Leigh, Margaret W.; Knowles, Michael R.; Omran, Heymut; Mitchison, Hannah M.; Brown, Alan; Marsh, Joseph A.; Welburn, Julie P. I.; Ti, Shih-Chieh; Horani, Amjad; Rozet, Jean-Michel; Perrault, Isabelle; Mill, Pleasantine
Science
Academic Journal
Dodd, Daniel O; Mechaussier, Sabrina; Yeyati, Patricia L; McPhie, Fraser; Anderson, Jacob R; Khoo, Chen Jing; Shoemark, Amelia; Gupta, Deepesh K; Attard, Thomas; Zariwala, Maimoona A; Legendre, Marie; Bracht, Diana; Wallmeier, Julia; Gui, Miao; Fassad, Mahmoud R; Parry, David A; Tennant, Peter A; Meynert, Alison; Wheway, Gabrielle; Fares-Taie, Lucas; Black, Holly A; Mitri-Frangieh, Rana; Faucon, Catherine; Kaplan, Josseline; Patel, Mitali; McKie, Lisa; Megaw, Roly; Gatsogiannis, Christos; Mohamed, Mai A; Aitken, Stuart; Gautier, Philippe; Reinholt, Finn R; Hirst, Robert A; O'Callaghan, Chris; Heimdal, Ketil; Bottier, Mathieu; Escudier, Estelle; Crowley, Suzanne; Descartes, Maria; Jabs, Ethylin W; Kenia, Priti; Amiel, Jeanne; Bacci, Giacomo Maria; Calogero, Claudia; Palazzo, Viviana; Tiberi, Lucia; Blümlein, Ulrike; Rogers, Andrew; Wambach, Jennifer A; Wegner, Daniel J; Fulton, Anne B; Kenna, Margaret; Rosenfeld, Margaret; Holm, Ingrid A; Quigley, Alan; Hall, Emma A; Murphy, Laura C; Cassidy, Diane M; von Kriegsheim, Alex; Scottish Genomes Partnership16; Genomics England Research Consortium45; Undiagnosed Diseases Network46; Papon, Jean-François; Pasquier, Laurent; Murris, Marlène S; Chalmers, James D; Hogg, Claire; Macleod, Kenneth A; Urquhart, Don S; Unger, Stefan; Aitman, Timothy J; Amselem, Serge; Leigh, Margaret W; Knowles, Michael R; Omran, Heymut; Mitchison, Hannah M; Brown, Alan; Marsh, Joseph A; Welburn, Julie PI; Ti, Shih-Chieh; Horani, Amjad; Rozet, Jean-Michel; Perrault, Isabelle; Mill, Pleasantine
Academic Journal
Moya, Rene; Angée, Clémentine; Hanein, Sylvain; Jabot-Hanin, Fabienne; Kaplan, Josseline; Perrault, Isabelle; Rozet, Jean-Michel; Fares Taie, Lucas
International Journal of Molecular Sciences. June, 2024, Vol. 25 Issue 11
Academic Journal
Plaisancie, Julie; Angee, Clementine; Erjavec, Elisa; Raymond-Letron, Isabelle; Douet, Jean-Yves; Goetz, Mathilde; Vincent-Delorme, Catherine; Karemaker, Ino D.; Baltissen, Marijke; Vermeulen, Michiel; Valdivia, Leonardo; Jabot-Hanin, Fabienne; David, Pierre; Hadjadj, Djihad; Abou Monsef, Yanad; Lyazrhi, Faouzi; Calvas, Patrick; Rozet, Jean-Michel; Chassaing, Nicolas; Fares-Taie, Lucas
First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients
Academic Journal
Chesneau, Bertrand; Aubert-Mucca, Marion; Fremont, Felix; Pechmeja, Jacmine; Soler, Vincent; Isidor, Bertrand; Nizon, Mathilde; Dollfus, Helene; Kaplan, Josseline; Fares-Taie, Lucas; Rozet, Jean-Michel; Busa, Tiffany; Lacombe, Didier; Naudion, Sophie; Amiel, Jeanne; Rio, Marlene; Attie-Bitach, Tania; Lesage, Cecile; Thouvenin, Dominique; Odent, Sylvie; Morel, Godelieve; Vincent-Delorme, Catherine; Boute, Odile; Vanlerberghe, Clemence; Dieux, Anne; Boussion, Simon; Faivre, Laurence; Pinson, Lucile; Laffargue, Fanny; Le Guyader, Gwenael; Le Meur, Guylène; Prieur, Fabienne; Lambert, Victor; Laudier, Beatrice; Cottereau, Edouard; Ayuso, Carmen; Corton-Perez, Marta; Bouneau, Laurence; Le Caignec, Cedric; Gaston, Veronique; Jeanton-Scaramouche, Claire; Dupin-Deguine, Delphine; Calvas, Patrick; Chassaing, Nicolas; Plaisancie, Julie
Clinical Genetics. 101:494-506
Academic Journal
Plaisancié, Julie; Chesneau, Bertrand; Fares-Taie, Lucas; Rozet, Jean-Michel; Pechmeja, Jacmine; Noero, Julien; Gaston, Véronique; Bailleul-Forestier, Isabelle; Calvas, Patrick; Chassaing, Nicolas
International Journal of Molecular Sciences. February, 2024, Vol. 25 Issue 5
Academic Journal
Clémentine Angée; Elisa Erjavec; Djihad Hadjadj; Bruno Passet; Pierre David; Corinne Kostic; Emmanuel Dodé; Xavier Zanlonghi; Nicolas Cagnard; Brigitte Nedelec; Sylvain V. Crippa; Christine Bole-Feysot; Mohammed Zarhrate; Sophie Creuzet; Johan Castille; Jean-Luc Vilotte; Patrick Calvas; Julie Plaisancié; Nicolas Chassaing; Josseline Kaplan; Jean-Michel Rozet; Lucas Fares Taie
Academic Journal
Isabelle Perrault; Andrea Zanetti; Lucas Fares-Taie; Jeanne Amiel; Jerome Roger; Isabelle Audo; Matthieu Robert; Pierre David; Vincent Jung; Nicolas GOUDIN; Ida Guerrera; Stéphanie Moriceau; Danielle Amana; Nathalie Boddaert; Sylvain Briault; Ange-Line Bruel; Cyril Gitiaux; Karolina Kaminska; Nicole Philip-Sarles; Mathieu Quinodoz; Christina Santos; Luisa Coutinho Santos; Sabine Sigaudy; Mariana Soeiro e Sá; Ana Berta Sousa; Christel Thauvin; Josseline Kaplan; Carlo Rivolta; Jean-Michel Rozet
Academic Journal
Jennifer Rakotomamonjy; Lauren Rylaarsdam; Lucas Fares-Taie; Sean McDermott; Devin Davies; George Yang; Fikayo Fagbemi; Maya Epstein; Martín Fairbanks-Santana; Jean-Michel Rozet; Alicia Guemez-Gamboa
Cell Reports, Vol 42, Iss 8, Pp 112845- (2023)
Academic Journal
Sabrina Mechaussier; Daniel O Dodd; Patricia L Yeyati; Fraser McPhie; Thomas Attard; Amelia Shoemark; Deepesh K Gupta; Maimoona A Zariwala; Marie Legendre; Diana Bracht; Julia Wallmeier; Miao Gui; Jacob R Anderson; Mahmoud R Fassad; David A Parry; Peter A Tennant; Alison Meynert; Gabrielle Wheway; Lucas Fares-Taie; Holly A Black; Rana Mitri-Frangieh; Catherine Faucon; Josseline Kaplan; Mitali Patel; Lisa McKie; Roly Megaw; Christos Gatsogiannis; Mai A Mohamed; Stuart Aitken; Philippe Gautier; Finn R Reinholt; Robert A Hirst; Chris O’Callaghan; Ketil Heimdal; Mathieu Bottier; Estelle Escudier; Suzanne Crowley; Maria Descartes; Ethylin W Jabs; Priti Kenia; Jeanne Amiel; Ulrike Blümlein; Andrew Rogers; Jennifer A Wambach; Daniel J Wegner; Anne B Fulton; Margaret Kenna; Margaret Rosenfeld; Ingrid A Holm; Alan Quigley; Diana M Cassidy; Alex von Kriegsheim; Jean-Francois Papon; Laurent Pasquier; Marlène S Murris; James D Chalmers; Clare Hogg; Kenneth Macleod; Don S Urquhart; Stefan Unger; Timothy J Aitman; Serge Amselem; Jean-Michel Rozet; Margaret W Leigh; Michael R. Knowles; Heymut Omran; Hannah M Mitchison; Alan Brown; Joseph A Marsh; Julie P I Welburn; Amjad Horani; Isabelle Perrault; Pleasantine Mill
medRXiv
medRxiv
medRxiv
Academic Journal
Gerber, Sylvie; Alzayady, Kamil j.; Burglen, Lydie; Brémond-Gignac, Dominique; Marchesin, Valentina; Roche, Olivier; Rio, Marlène; Funalot, Benoit; Calmon, Raphaël; Durr, Alexandra; Gil-Da-Silva-Lopes, Vera lucia; Ribeiro bittar, Maria fernanda; Orssaud, Christophe; Héron, Bénédicte; Ayoub, Edward; Berquin, Patrick; Bahi-Buisson, Nadia; Bole, Christine; Masson, Cécile; Munnich, Arnold; Simons, Matias; Delous, Marion; Dollfus, Helene; Boddaert, Nathalie; Lyonnet, Stanislas; Kaplan, Josseline; Calvas, Patrick; Yule, David i.; Rozet, Jean-Michel; Fares taie, Lucas
The American Journal of Human Genetics. 98:971-980
Academic Journal
Plaisancié, Julie; Brémond-Gignac, Dominique; Demeer, Bénédicte; Gaston, Véronique; Verloes, Alain; Fares-Taie, Lucas; Gerber, Sylvie; Rozet, Jean-Michel; Calvas, Patrick; Chassaing, Nicolas
European Journal of Medical Genetics. 59(4):215-218
Academic Journal
Angebault Prouteau, Claire; Guichet, Pierre-Olivier; Talmat-Amar, Yasmina; Charif, Majida; Gerber, Sylvie; Fares-Taie, Lucas; Guegen, Naig; Halloy, François; Moore, David; Amati -Bonneau, Patrizia; Manes, Gaël; Hebrard, Maxime; Bocquet, Béatrice; Quiles, Mélanie; Piro-Mégy, Camille; Teigell, Marisa; Delettre, Cécile; Rossel, Mireille; Meunier, Isabelle; Preising, Markus; Lorenz, Birgit; Carelli, Valerio; Chinnery, Patrick; Yu-Wai-Man, Patrick; Kaplan, Josseline; Roubertie, Agathe; Barakat, Abdelhamid; Bonneau, Dominique; Reynier, Pascal; Rozet, Jean-Michel; Bomont, Pascale; Hamel, Christian; Lenaers, Guy
The American Journal of Human Genetics. 97:754-760
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