학술논문
'학술논문'
에서 검색결과 18건 | 목록
1~10
Academic Journal
Lamisse Mansour-Hendili; Cyril Gitiaux; Madeleine Harion; Céline Latouche; Bénédicte Heron; Tanya Stojkovic; Mélanie Rama; Thomas Smol; Anne Sophie Jourdain; Karine Mention; Yann Nadjar; Manuel Schiff; Julie Lemale; Jamal Ghoumid; Frédéric Gottrand; Cécile Talbotec; Agnès Rötig; Benoît Funalot; Isabelle Desguerre
Frontiers in Genetics, Vol 15 (2024)
Academic Journal
Clément Pontoizeau; Marcelo Simon-Sola; Clovis Gaborit; Vincent Nguyen; Irina Rotaru; Nolan Tual; Pasqualina Colella; Muriel Girard; Maria-Grazia Biferi; Jean-Baptiste Arnoux; Agnès Rötig; Chris Ottolenghi; Pascale de Lonlay; Federico Mingozzi; Marina Cavazzana; Manuel Schiff
Nature Communications, Vol 13, Iss 1, Pp 1-13 (2022)
Academic Journal
Vicente A. Yépez; Mirjana Gusic; Robert Kopajtich; Christian Mertes; Nicholas H. Smith; Charlotte L. Alston; Rui Ban; Skadi Beblo; Riccardo Berutti; Holger Blessing; Elżbieta Ciara; Felix Distelmaier; Peter Freisinger; Johannes Häberle; Susan J. Hayflick; Maja Hempel; Yulia S. Itkis; Yoshihito Kishita; Thomas Klopstock; Tatiana D. Krylova; Costanza Lamperti; Dominic Lenz; Christine Makowski; Signe Mosegaard; Michaela F. Müller; Gerard Muñoz-Pujol; Agnieszka Nadel; Akira Ohtake; Yasushi Okazaki; Elena Procopio; Thomas Schwarzmayr; Joél Smet; Christian Staufner; Sarah L. Stenton; Tim M. Strom; Caterina Terrile; Frederic Tort; Rudy Van Coster; Arnaud Vanlander; Matias Wagner; Manting Xu; Fang Fang; Daniele Ghezzi; Johannes A. Mayr; Dorota Piekutowska-Abramczuk; Antonia Ribes; Agnès Rötig; Robert W. Taylor; Saskia B. Wortmann; Kei Murayama; Thomas Meitinger; Julien Gagneur; Holger Prokisch
Genome Medicine, Vol 14, Iss 1, Pp 1-26 (2022)
Academic Journal
Kyle Thompson; Lucas Bianchi; Francesca Rastelli; Florence Piron-Prunier; Sophie Ayciriex; Claude Besmond; Laurence Hubert; Magalie Barth; Inês A. Barbosa; Charu Deshpande; Manali Chitre; Sarju G. Mehta; Eric J.M. Wever; Pascale Marcorelles; Sandra Donkervoort; Dimah Saade; Carsten G. Bönnemann; Katherine R. Chao; Chunyu Cai; Susan T. Iannaccone; Andrew F. Dean; Robert McFarland; Frédéric M. Vaz; Agnès Delahodde; Robert W. Taylor; Agnès Rötig
HGG Advances, Vol 3, Iss 2, Pp 100097- (2022)
Academic Journal
Cérane Cafournet; Sofia Zanin; Anne Guimier; Marie Hully; Zahra Assouline; Giulia Barcia; Pascale de Lonlay; Julie Steffann; Arnold Munnich; Jean-Paul Bonnefont; Agnès Rötig; Benedetta Ruzzenente; Metodi D. Metodiev
Life, Vol 13, Iss 2, p 445 (2023)
Academic Journal
Sahar Elouej; Karim Harhouri; Morgane Le Mao; Genevieve Baujat; Sheela Nampoothiri; Hϋlya Kayserili; Nihal Al Menabawy; Laila Selim; Arianne Llamos Paneque; Christian Kubisch; Davor Lessel; Robert Rubinsztajn; Chayki Charar; Catherine Bartoli; Coraline Airault; Jean-François Deleuze; Agnes Rötig; Peter Bauer; Catarina Pereira; Abigail Loh; Nathalie Escande-Beillard; Antoine Muchir; Lisa Martino; Yosef Gruenbaum; Song-Hua Lee; Philippe Manivet; Guy Lenaers; Bruno Reversade; Nicolas Lévy; Annachiara De Sandre-Giovannoli
Nature Communications, Vol 11, Iss 1, Pp 1-15 (2020)
Academic Journal
Birgit M. Repp; Elisa Mastantuono; Charlotte L. Alston; Manuel Schiff; Tobias B. Haack; Agnes Rötig; Anna Ardissone; Anne Lombès; Claudia B. Catarino; Daria Diodato; Gudrun Schottmann; Joanna Poulton; Alberto Burlina; An Jonckheere; Arnold Munnich; Boris Rolinski; Daniele Ghezzi; Dariusz Rokicki; Diana Wellesley; Diego Martinelli; Ding Wenhong; Eleonora Lamantea; Elsebet Ostergaard; Ewa Pronicka; Germaine Pierre; Hubert J. M. Smeets; Ilka Wittig; Ingrid Scurr; Irenaeus F. M. de Coo; Isabella Moroni; Joél Smet; Johannes A. Mayr; Lifang Dai; Linda de Meirleir; Markus Schuelke; Massimo Zeviani; Raphael J. Morscher; Robert McFarland; Sara Seneca; Thomas Klopstock; Thomas Meitinger; Thomas Wieland; Tim M. Strom; Ulrike Herberg; Uwe Ahting; Wolfgang Sperl; Marie-Cecile Nassogne; Han Ling; Fang Fang; Peter Freisinger; Rudy Van Coster; Valentina Strecker; Robert W. Taylor; Johannes Häberle; Jerry Vockley; Holger Prokisch; Saskia Wortmann
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-10 (2018)
Academic Journal
Giulia Barcia; Zahra Assouline; Alessandra Pennisi; Julie Steffann; Nathalie Boddaert; Cyril Gitiaux; Agnès Rötig; Jean-Paul Bonnefont; Arnold Munnich
Molecular Genetics and Metabolism Reports, Vol 21, Iss , Pp - (2019)
Academic Journal
Laura S. Kremer; Daniel M. Bader; Christian Mertes; Robert Kopajtich; Garwin Pichler; Arcangela Iuso; Tobias B. Haack; Elisabeth Graf; Thomas Schwarzmayr; Caterina Terrile; Eliška Koňaříková; Birgit Repp; Gabi Kastenmüller; Jerzy Adamski; Peter Lichtner; Christoph Leonhardt; Benoit Funalot; Alice Donati; Valeria Tiranti; Anne Lombes; Claude Jardel; Dieter Gläser; Robert W. Taylor; Daniele Ghezzi; Johannes A. Mayr; Agnes Rötig; Peter Freisinger; Felix Distelmaier; Tim M. Strom; Thomas Meitinger; Julien Gagneur; Holger Prokisch
Nature Communications, Vol 8, Iss 1, Pp 1-11 (2017)
Academic Journal
Sahar Elouej; Karim Harhouri; Morgane Le Mao; Genevieve Baujat; Sheela Nampoothiri; Hϋlya Kayserili; Nihal Al Menabawy; Laila Selim; Arianne Llamos Paneque; Christian Kubisch; Davor Lessel; Robert Rubinsztajn; Chayki Charar; Catherine Bartoli; Coraline Airault; Jean-François Deleuze; Agnes Rötig; Peter Bauer; Catarina Pereira; Abigail Loh; Nathalie Escande-Beillard; Antoine Muchir; Lisa Martino; Yosef Gruenbaum; Song-Hua Lee; Philippe Manivet; Guy Lenaers; Bruno Reversade; Nicolas Lévy; Annachiara De Sandre-Giovannoli
Nature Communications, Vol 11, Iss 1, Pp 1-1 (2020)
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