학술논문
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'학술논문'
에서 검색결과 28건 | 목록
1~20
Academic Journal
Livia O. Loureiro; Jennifer L. Howe; Miriam S. Reuter; Alana Iaboni; Kristina Calli; Delnaz Roshandel; Iva Pritišanac; Alan Moses; Julie D. Forman-Kay; Brett Trost; Mehdi Zarrei; Olivia Rennie; Lynette Y. S. Lau; Christian R. Marshall; Siddharth Srivastava; Brianna Godlewski; Elizabeth D. Buttermore; Mustafa Sahin; Dean Hartley; Thomas Frazier; Jacob Vorstman; Stelios Georgiades; Suzanne M. E. Lewis; Peter Szatmari; Clarrisa A. (Lisa) Bradley; Anne-Claude Tabet; Marjolaine Willems; Serge Lumbroso; Amélie Piton; James Lespinasse; Richard Delorme; Thomas Bourgeron; Evdokia Anagnostou; Stephen W. Scherer
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-12 (2021)
Academic Journal
Frédéric Tran Mau-Them; Alexis Overs; Ange-Line Bruel; Romain Duquet; Mylene Thareau; Anne-Sophie Denommé-Pichon; Antonio Vitobello; Arthur Sorlin; Hana Safraou; Sophie Nambot; Julian Delanne; Sebastien Moutton; Caroline Racine; Camille Engel; Melchior De Giraud d’Agay; Daphne Lehalle; Alice Goldenberg; Marjolaine Willems; Christine Coubes; David Genevieve; Alain Verloes; Yline Capri; Laurence Perrin; Marie-Line Jacquemont; Laetitia Lambert; Elodie Lacaze; Julien Thevenon; Nadine Hana; Julien Van-Gils; Charlotte Dubucs; Varoona Bizaoui; Marion Gerard-Blanluet; James Lespinasse; Sandra Mercier; Anne-Marie Guerrot; Isabelle Maystadt; Emilie Tisserant; Laurence Faivre; Christophe Philippe; Yannis Duffourd; Christel Thauvin-Robinet
Frontiers in Genetics, Vol 14 (2023)
Academic Journal
Ilaria Parenti; Elsa Leitão; Alma Kuechler; Laurent Villard; Cyril Goizet; Cécile Courdier; Allan Bayat; Alessandra Rossi; Sophie Julia; Ange-Line Bruel; Frédéric Tran Mau-Them; Sophie Nambot; Daphné Lehalle; Marjolaine Willems; James Lespinasse; Jamal Ghoumid; Roseline Caumes; Thomas Smol; Salima El Chehadeh; Elise Schaefer; Marie-Thérèse Abi-Warde; Boris Keren; Alexandra Afenjar; Anne-Claude Tabet; Jonathan Levy; Anna Maruani; Ángel Aledo-Serrano; Waltraud Garming; Clara Milleret-Pignot; Anna Chassevent; Marije Koopmans; Nienke E. Verbeek; Richard Person; Rebecca Belles; Gary Bellus; Bonnie A. Salbert; Frank J. Kaiser; Laure Mazzola; Philippe Convers; Laurine Perrin; Amélie Piton; Gert Wiegand; Andrea Accogli; Francesco Brancati; Fabio Benfenati; Nicolas Chatron; David Lewis-Smith; Rhys H. Thomas; Federico Zara; Pasquale Striano; Gaetan Lesca; Christel Depienne
Frontiers in Cell and Developmental Biology, Vol 10 (2022)
Academic Journal
Maude Grelet; Véronique Blanck; Sabine Sigaudy; Nicole Philip; Fabienne Giuliano; Khaoula Khachnaoui; Godelieve Morel; Sarah Grotto; Julia Sophie; Céline Poirsier; James Lespinasse; Laurent Alric; Patrick Calvas; Gihane Chalhoub; Valérie Layet; Arnaud Molin; Cindy Colson; Luisa Marsili; Patrick Edery; Nicolas Lévy; Annachiara De Sandre-Giovannoli
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-16 (2019)
Academic Journal
Anna Lamotte; Guillaume Martinez; Françoise Devillard; Jean-Pascal Hograindleur; Véronique Satre; Charles Coutton; Radu Harbuz; Florence Amblard; James Lespinasse; Mehdi Benchaib; Julien Bessonnat; Sophie Brouillet; Sylviane Hennebicq
Basic and Clinical Andrology, Vol 28, Iss 1, Pp 1-11 (2018)
Academic Journal
Claire S Leblond; Caroline Nava; Anne Polge; Julie Gauthier; Guillaume Huguet; Serge Lumbroso; Fabienne Giuliano; Coline Stordeur; Christel Depienne; Kevin Mouzat; Dalila Pinto; Jennifer Howe; Nathalie Lemière; Christelle M Durand; Jessica Guibert; Elodie Ey; Roberto Toro; Hugo Peyre; Alexandre Mathieu; Frédérique Amsellem; Maria Rastam; I Carina Gillberg; Gudrun A Rappold; Richard Holt; Anthony P Monaco; Elena Maestrini; Pilar Galan; Delphine Heron; Aurélia Jacquette; Alexandra Afenjar; Agnès Rastetter; Alexis Brice; Françoise Devillard; Brigitte Assouline; Fanny Laffargue; James Lespinasse; Jean Chiesa; François Rivier; Dominique Bonneau; Beatrice Regnault; Diana Zelenika; Marc Delepine; Mark Lathrop; Damien Sanlaville; Caroline Schluth-Bolard; Patrick Edery; Laurence Perrin; Anne Claude Tabet; Michael J Schmeisser; Tobias M Boeckers; Mary Coleman; Daisuke Sato; Peter Szatmari; Stephen W Scherer; Guy A Rouleau; Catalina Betancur; Marion Leboyer; Christopher Gillberg; Richard Delorme; Thomas Bourgeron
PLoS Genetics, Vol 10, Iss 9, p e1004580 (2014)
Academic Journal
Catherine Dodé; Luis Teixeira; Jacqueline Levilliers; Corinne Fouveaut; Philippe Bouchard; Marie-Laure Kottler; James Lespinasse; Anne Lienhardt-Roussie; Michèle Mathieu; Alexandre Moerman; Graeme Morgan; Arnaud Murat; Jean-Edmont Toublanc; Slawomir Wolczynski; Marc Delpech; Christine Petit; Jacques Young; Jean-Pierre Hardelin
PLoS Genetics, Vol 2, Iss 10, p e175 (2006)
Academic Journal
Angela Peron; Felice D’Arco; Kimberly A. Aldinger; Constance Smith-Hicks; Christiane Zweier; Gyri A. Gradek; Kimberley Bradbury; Andrea Accogli; Erica F. Andersen; Ping Yee Billie Au; Roberta Battini; Daniah Beleford; Lynne M. Bird; Arjan Bouman; Ange-Line Bruel; Øyvind Løvold Busk; Philippe M. Campeau; Valeria Capra; Colleen Carlston; Jenny Carmichael; Anna Chassevent; Jill Clayton-Smith; Michael J. Bamshad; Dawn L. Earl; Laurence Faivre; Christophe Philippe; Patrick Ferreira; Luitgard Graul-Neumann; Mary J. Green; Darrah Haffner; Parthiv Haldipur; Suhair Hanna; Gunnar Houge; Wendy D. Jones; Cornelia Kraus; Birgit Elisabeth Kristiansen; James Lespinasse; Karen J. Low; Sally Ann Lynch; Sofia Maia; Rong Mao; Ruta Kalinauskiene; Catherine Melver; Kimberly McDonald; Tara Montgomery; Manuela Morleo; Constance Motter; Amanda S. Openshaw; Janice Cox Palumbos; Aditi Shah Parikh; Yezmin Perilla-Young; Cynthia M. Powell; Richard Person; Megha Desai; Juliette Piard; Rolph Pfundt; Marcello Scala; Margaux Serey-Gaut; Deborah Shears; Anne Slavotinek; Mohnish Suri; Claire Turner; Tatiana Tvrdik; Karin Weiss; Ingrid M. Wentzensen; Marcella Zollino; Tzung-Chien Hsieh; Keri Ramsey; Bert B. A. de Vries; Francois Guillemot; William B. Dobyns; David Viskochil; Cristina Dias
Eur J Hum Genet
European Journal of Human Genetics, 33, 3, pp. 312-324
European Journal of Human Genetics, vol 33, iss 3
European Journal of Human Genetics, 33, 3, pp. 312-324
European Journal of Human Genetics, vol 33, iss 3
Academic Journal
Felix Marbach; Beata S. Lipska‐Ziętkiewicz; Agata Knurowska; Vincent Michaud; Henri Margot; James Lespinasse; Frédéric Tran Mau Them; Christine Coubes; Joohyun Park; Sarah Grosch; Cristiana Roggia; Ute Grasshoff; Louisa Kalsner; Anne‐Sophie Denommé‐Pichon; Alexandra Afenjar; Bénédicte Héron; Boris Keren; Pilar Caro; Christian P. Schaaf
American Journal of Medical Genetics Part A. 188:2627-2636
Academic Journal
Mathilde Lefebvre; Ange-Line Bruel; Emilie Tisserant; Nicolas Bourgon; Yannis Duffourd; Sophie Collardeau-Frachon; Tania Attie-Bitach; Paul Kuentz; Mirna assoum; Elise Schaefer; Salima El Chehadeh; Maria Cristina Antal; Valérie Kremer; Françoise Girard-Lemaitre; Jean-Louis Mandel; Daphne Lehalle; Sophie Nambot; Nolwenn Jean-Marçais; Nada Houcinat; Sébastien Moutton; Nathalie Marle; Laetita Lambert; Philippe Jonveaux; Bernard Foliguet; Jean-Pierre Mazutti; Dominique Gaillard; Elisabeth Alanio; Celine Poirisier; Anne-Sophie Lebre; Marion Aubert-Lenoir; Francine Arbez-Gindre; Sylvie Odent; Chloé Quélin; Philippe Loget; Melanie Fradin; Marjolaine Willems; Nicole Bigi; Marie-José Perez; Sophie Blesson; Christine Francannet; Anne-Marie Beaufrere; Sophie Patrier-Sallebert; Anne-Marie Guerrot; Alice Goldenberg; Anne-Claire Brehin; James Lespinasse; Renaud Touraine; Yline Capri; Marie-Hélène Saint-Frison; Nicole Laurent; Christophe Philippe; Frederic Tran Mau-them; Julien Thevenon; Laurence Faivre; Christel Thauvin-Robinet; Antonio Vitobello
Journal of Medical Genetics. 58:400-413
Academic Journal
Thomas Husson; François Lecoquierre; Gaël Nicolas; Anne-Claire Richard; Alexandra Afenjar; Séverine AUDEBERT-BELLANGER; Catherine Badens; Frédéric Bilan; Varoona Bizaoui; Anne Boland; Marie-Noelle Bonnet-Dupeyron; Elise Brischoux-Boucher; Céline Bonnet; Marie Bournez; Odile Boute; Perrine Brunelle; Roseline Caumes; Perrine Charles; Nicolas Chassaing; Nicolas Chatron; Benjamin Cogné; Estelle Colin; Valérie Cormier-Daire; Rodolphe Dard; Benjamin Dauriat; Julian Delanne; Jean-François Deleuze; Florence Demurger; Anne-Sophie Denommé-Pichon; Christel Depienne; Anne Dieux Coeslier; Christèle Dubourg; Patrick Edery; salima EL CHEHADEH; Laurence Faivre; Mélanie FRADIN; Aurore Garde; David Geneviève; Brigitte Gilbert-Dussardier; Cyril Goizet; Alice Goldenberg; Evan Gouy; Anne-Marie Guerrot; Anne Guimier; Ines HARZALLAH; Delphine Héron; Bertrand Isidor; Xavier Le Guillou Horn; Boris Keren; Alma Kuechler; Elodie Lacaze; Alinoë Lavillaureix; Daphné Lehalle; Gaetan Lesca; James Lespinasse; Jonathan Levy; Stanislas Lyonnet; Godelieve Morel; Nolwenn Jean Marçais; Sandrine Marlin; Luisa Marsili; Cyril Mignot; Sophie Nambot; Mathilde Nizon; Robert Olaso; Laurent PASQUIER; Laurine Perrin; Florence Petit; Amélie Piton; Fabienne Prieur; Audrey Putoux; Marc Planes; Sylvie Odent; Chloé Quelin; Sylvia Quemener; Mélanie Rama; Marlène RIO; Massimiliano Rossi; Elise Schaefer; Sophie Rondeau; Pascale SAUGIER-VEBER; Thomas Smol; Sabine Sigaudy; Renaud TOURAINE; Frédéric Tran-Mau-Them; Aurélien Trimouille; Clémence Vanlerberghe; Valérie Vantalon; Gabriella Vera; Marie Vincent; Alban Ziegler; Olivier Guillin; Dominique Campion; Camille Charbonnier
Academic Journal
Laurence Pacot; Julien Masliah-Planchon; Adina Petcu; Benoit Terris; Marion Gauthier Villars; James Lespinasse; Pierre Wolkenstein; Anne Vincent-Salomon; Dominique Vidaud; Eric Pasmant
Journal of Medical Genetics. 61:428-429
Academic Journal
Sarah E Sheppard; Laura Bryant; Rochelle N Wickramasekara; Courtney Vaccaro; Brynn Robertson; Jodi Hallgren; Jason Hulen; Cynthia J Watson; Victor Faundes; Yannis Duffourd; Pearl Lee; M Celeste Simon; Xavier de la Cruz; Natália Padilla; Marco Flores-Mendez; Naiara Akizu; Jacqueline Smiler; Renata Pellegrino Da Silva; Dong Li; Michael March; Abdias Diaz-Rosado; Isabella Peixoto de Barcelos; Zhao Xiang Choa; Chin Yan Lim; Christèle Dubourg; Hubert Journel; Florence Demurger; Maureen Mulhern; Cigdem Akman; Natalie Lippa; Marisa Andrews; Dustin Baldridge; John Constantino; Arie van Haeringen; Irina Snoeck-Streef; Penny Chow; Anne Hing; John M Graham Jr; Margaret Au; Laurence Faivre; Wei Shen; Rong Mao; Janice Palumbos; David Viskochil; William Gahl; Cynthia Tifft; Ellen Macnamara; Natalie Hauser; Rebecca Miller; Jessica Maffeo; Alexandra Afenjar; Diane Doummar; Boris Keren; Pamela Arn Sarah Macklin-Mantia; Ilse Meerschaut; Bert Callewaert; André Reis; Christiane Zweier; Carole Brewer; Anand Saggar; Marie F Smeland; Ajith Kumar; Frances Elmslie; Charu Deshpande; Mathilde Nizon; Benjamin Cogne; Yvette van Ierland; Martina Wilke; Marjon van Slegtenhorst; Suzanne Koudijs; Jin Yun Chen; David Dredge; Danielle Pier; Saskia Wortmann; Erik-Jan Kamsteeg; Johannes Koch; Devon Haynes; Lynda Pollack; Hannah Titheradge; Kara Ranguin; Anne-Sophie Denommé-Pichon; Sacha Weber; Rubén Pérez de la Fuente; Jaime Sánchez Del Pozo; Jose Miguel Lezana Rosales; Pascal Joset; Katharina Steindl; Anita Rauch; Davide Mei; Francesco Mari; Renzo Guerrini; James Lespinasse; Frédéric Tran Mau-Them; Christophe Philippe; Benjamin Dauriat; Laure Raymond; Sébastien Moutton; Anna M Cueto-González; Tiong Yang Tan; Cyril Mignot; Sarah Grotto; Florence Renaldo; Theodore G Drivas; Laura Hennessy; Anna Raper; Ilaria Parenti; Frank J Kaiser; Alma Kuechler; Øyvind L Busk; Lily Islam; Jacob A Siedlik; Lindsay B Henderson; Jane Juusola; Richard Person; Rhonda E Schnur; Antonio Vitobello; Siddharth Banka; Elizabeth J Bhoj; Holly A F Stessman
Academic Journal
Alice Fiévet; Dorine Bellanger; Laila Zahed; Lydie Burglen; Anne‐Céline Derrien; Catherine Dubois d'Enghien; James Lespinasse; Béatrice Parfait; Jean‐Michel Pedespan; Guillaume Rieunier; Dominique Stoppa‐Lyonnet; Marc‐Henri Stern
Human Mutation. 41:608-618
Academic Journal
Ange-Line Bruel; Sophie Nambot; Virginie Quéré; Antonio Vitobello; Julien Thevenon; Mirna Assoum; Sébastien Moutton; Nada Houcinat; Daphné Lehalle; Nolwenn Jean-Marçais; Alain Verloès; Alexandra Karsenti; Alice Goldenberg; Aurélia Jacquette; Béatrice Jouret; Béatrice Laudier; Christine Coubes; Christine Francannet; David Geneviève; Delphine Heron; Didier Lacombe; Elise Schaefer; Elodie Lacaze; Emmanuel Jacquemin; Fabienne Prieur; Fanny Laffarge; Florence Petit; François Feillet; Gilles Morin; Gwenaëlle Diene; James Lespinasse; Jeanne Amiel; Judith Melki; Laëtitia Lambert; Laurence Perrin; Lucile Pinson; Marie-Line Jacquemont; Marie-Pierre Cordier-Alex; Marine Lebrun; Marion Gérard-Blanluet; Marjolaine Willems; Massimiliano Rossi; Nicolas Chassaing; Nicole Philip; Renaud Touraine; Salima El-Chehadeh; Séverine Audebert-Bellanger; Sophie Blesson; Yline Capri; Martin Chevarin; Thibaud Jouan; Charlotte Poë; Patrick Callier; Emilie Tisserand; Christophe Philippe; Frédéric Tran Mau Them; Yannis Duffourd; Laurence Faivre; Christel Thauvin-Robinet
European Journal of Human Genetics. 27:1519-1531
Academic Journal
Juliette Piard; James Lespinasse; Marketa Vlckova; Martin A. Mensah; Sorin Iurian; Martina Simandlova; Marcela Malikova; Oliver Bartsch; Massimiliano Rossi; Marion Lenoir; Frédérique Nugues; Stefan Mundlos; Uwe Kornak; Philip Stanier; Sérgio B. Sousa; Lionel Van Maldergem
Am J Med Genet A
American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A
Academic Journal
Frédéric Tran Mau Them; Alexis Overs; ange-line bruel; Romain Duquet; Mylene Thareau; Anne-Sophie Denommé-Pichon; Antonio Vitobello; Arthur Sorlin; Hana Safraou; Sophie Nambot; Julian Delanne; Sebastien Moutton; Caroline RACINE; Camille Engel; Melchior D’agay; Daphné Lehalle; Alice Goldenberg; Marjolaine Willems; christine Coubes; David Geneviève; Alain Verloes; Yline CAPRI; Laurence Perrin; Marie-Line Jacquemont; Laetitia Lambert; Elodie Lacaze; Julien Thevenon; Nadine Hanna; Van-Gils Julien; Charlotte Dubucs; Varoona Bizaoui; Marion Gerard; James Lespinasse; Sandra Mercier; Anne-Marie Guerrot; Isabelle Maystadt; Emilie Tisserant; Laurence Faivre; Christophe Philippe; Yannis Duffourd; Christel Thauvin-Robinet
Academic Journal
Massimo Bogliolo; Dominique Bluteau; James Lespinasse; Roser Pujol; Nadia Vasquez; Catherine Dubois d'Enghien; Dominique Stoppa-Lyonnet; Thierry Leblanc; Jean Soulier; Jordi Surrallés
Genetics in Medicine
Academic Journal
Angela Peron; Felice D’Arco; Kimberly A. Aldinger; Constance Smith-Hicks; Christiane Zweier; Gyri A. Gradek; Kimberley Bradbury; Andrea Accogli; Erica F. Andersen; Ping Yee Billie Au; Roberta Battini; Daniah Beleford; Lynne M. Bird; Arjan Bouman; Ange-Line Bruel; Øyvind Løvold Busk; Philippe M. Campeau; Valeria Capra; Colleen Carlston; Jenny Carmichael; Anna Chassevent; Jill Clayton-Smith; Michael J Bamshad; Dawn L. Earl; Laurence Faivre; Christophe Philippe; Patrick Ferrerira; Luitgard Graul-Neumann; Mary J. Green; Darrah Haffner; Parthiv Haldipur; Suhair Hanna; Gunnar Houge; Jane Hurst; Cornelia Kraus; Birgit Elisabeth Kristiansen; James Lespinasse; Karen J. Low; Sally Ann Lynch; Sofia Maia; Rong Mao; Ruta Marcinkute; Catherine Melver; Kimberly McDonald; Tara Montgomery; Manuela Morleo; Constance Motter; Amanda S. Openshaw; Janice Cox Palumbos; Aditi Shah Parikh; Richard Person; Megha Desai; Juliette Piard; Rolph Pfundt; Marcello Scala; Margaux Serey-Gaut; Anne Slavotinek; Mohnish Suri; Claire Turner; Tatiana Tvrdik; Karin Weiss; Ingrid M. Wentzensen; Marcella Zollino; Bert B.A. de Vries; Francois Guillemot; William B. Dobyns; David Viskochil; Cristina Dias
Academic Journal
Nicolas Chatron; Giuliana Giannuzzi; Pierre-Antoine Rollat-Farnier; Flavie Diguet; Eleonora Porcu; Tony Yammine; Kevin Uguen; Zohra-Lydia Bellil; Julia Lauer Zillhardt; Arthur Sorlin; Flavie Ader; Alexandra Afenjar; Joris Andrieux; Claire Bardel; Eduardo Calpena; Sandra Chantot-Bastaraud; Patrick Callier; Nora Chelloug; Emilie Chopin; Marie-Pierre Cordier; Christèle Dubourg; Laurence Faivre; Françoise Girard; Solveig Heide; Yvan Herenger; Sylvie Jaillard; Boris Keren; Samantha J. L. Knight; James Lespinasse; Laurence Lohmann; Nathalie Marle; Reza Maroofian; Alice Masurel-Paulet; Michèle Mathieu-Dramard; Corinne Metay; Alistair T. Pagnamenta; Marie-France Portnoï; Fabienne Prieur; Marlène Rio; Jean-Pierre Siffroi; Stéphanie Valence; Jenny C. Taylor; Andrew O. M. Wilkie; Patrick Edery; Alexandre Reymond; Damien Sanlaville; Caroline Schluth-Bolard
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