학술논문
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공정이용 지침
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'학술논문'
에서 검색결과 30건 | 목록
1~20
Academic Journal
Aurélie de Thonel; Johanna K. Ahlskog; Kevin Daupin; Véronique Dubreuil; Jérémy Berthelet; Carole Chaput; Geoffrey Pires; Camille Leonetti; Ryma Abane; Lluís Cordón Barris; Isabelle Leray; Anna L. Aalto; Sarah Naceri; Marine Cordonnier; Carène Benasolo; Matthieu Sanial; Agathe Duchateau; Anniina Vihervaara; Mikael C. Puustinen; Federico Miozzo; Patricia Fergelot; Élise Lebigot; Alain Verloes; Pierre Gressens; Didier Lacombe; Jessica Gobbo; Carmen Garrido; Sandy D. Westerheide; Laurent David; Michel Petitjean; Olivier Taboureau; Fernando Rodrigues-Lima; Sandrine Passemard; Délara Sabéran-Djoneidi; Laurent Nguyen; Madeline Lancaster; Lea Sistonen; Valérie Mezger
Nature Communications, Vol 13, Iss 1, Pp 1-21 (2022)
Academic Journal
Sandrine Passemard; Albert Faye; Caroline Dubertret; Hugo Peyre; Camille Vorms; Victor Boimare; Stéphane Auvin; Martin Flamant; Philippe Ruszniewski; Jean-Damien Ricard
BMC Medical Education, Vol 21, Iss 1, Pp 1-13 (2021)
Academic Journal
Aurélie de Thonel; Johanna K. Ahlskog; Kevin Daupin; Véronique Dubreuil; Jérémy Berthelet; Carole Chaput; Geoffrey Pires; Camille Leonetti; Ryma Abane; Lluís Cordón Barris; Isabelle Leray; Anna L. Aalto; Sarah Naceri; Marine Cordonnier; Carène Benasolo; Matthieu Sanial; Agathe Duchateau; Anniina Vihervaara; Mikael C. Puustinen; Federico Miozzo; Patricia Fergelot; Élise Lebigot; Alain Verloes; Pierre Gressens; Didier Lacombe; Jessica Gobbo; Carmen Garrido; Sandy D. Westerheide; Laurent David; Michel Petitjean; Olivier Taboureau; Fernando Rodrigues-Lima; Sandrine Passemard; Délara Sabéran-Djoneidi; Laurent Nguyen; Madeline Lancaster; Lea Sistonen; Valérie Mezger
Nature Communications, Vol 14, Iss 1, Pp 1-1 (2023)
Academic Journal
Cells, Vol 12, Iss 13, p 1807 (2023)
Academic Journal
Sarah Duerinckx; Julie Désir; Camille Perazzolo; Cindy Badoer; Valérie Jacquemin; Julie Soblet; Isabelle Maystadt; Yusuf Tunca; Bettina Blaumeiser; Berten Ceulemans; Winnie Courtens; François‐Guillaume Debray; Anne Destree; Koenraad Devriendt; Anna Jansen; Kathelijn Keymolen; Damien Lederer; Bart Loeys; Marije Meuwissen; Stéphanie Moortgat; Geert Mortier; Marie‐Cécile Nassogne; Tayeb Sekhara; Rudy Van Coster; Jenny Van Den Ende; Nathalie Van der Aa; Hilde Van Esch; Olivier Vanakker; Helene Verhelst; Catheline Vilain; Sarah Weckhuysen; Sandrine Passemard; Alain Verloes; Alec Aeby; Nicolas Deconinck; Patrick Van Bogaert; Isabelle Pirson; Marc Abramowicz
Molecular Genetics & Genomic Medicine, Vol 9, Iss 9, Pp n/a-n/a (2021)
Academic Journal
Cell Stress, Vol 3, Iss 12, Pp 369-384 (2019)
Academic Journal
Martin Breuss; Julian Ik-Tsen Heng; Karine Poirier; Guoling Tian; Xavier Hubert Jaglin; Zhengdong Qu; Andreas Braun; Thomas Gstrein; Linh Ngo; Matilda Haas; Nadia Bahi-Buisson; Marie-Laure Moutard; Sandrine Passemard; Alain Verloes; Pierre Gressens; Yunli Xie; Kathryn J.H. Robson; Deepa Selvi Rani; Kumarasamy Thangaraj; Tim Clausen; Jamel Chelly; Nicholas Justin Cowan; David Anthony Keays
Cell Reports, Vol 2, Iss 6, Pp 1554-1562 (2012)
Academic Journal
Alix Lambrecht; Samia Pichard; Hélène Maurey; Nuria Garcia Segarra; Séverine Drunat; Cécile Acquaviva-Bourdain; Sandrine Passemard; Jean-François Benoist; Anne-Laure Fauret-Amsellem; Manuel Schiff
Molecular Genetics and Metabolism Reports, Vol 3, Iss C, Pp 36-38 (2015)
Academic Journal
Caroline Nava; Benjamin Cogne; Amandine Santini; Elsa Leitão; François Lecoquierre; Yuyang Chen; Sarah L. Stenton; Thomas Besnard; Solveig Heide; Sarah Baer; Abhilasha Jakhar; Sonja Neuser; Boris Keren; Anne Faudet; Sylvie Forlani; Marie Faoucher; Kevin Uguen; Konrad Platzer; Alexandra Afenjar; Jean-Luc Alessandri; Stephanie Andres; Chloé Angelini; Bernard Aral; Benoit Arveiler; Tania Attie-Bitach; Marion Aubert Mucca; Guillaume Banneau; Tahsin Stefan Barakat; Giulia Barcia; Stéphanie Baulac; Claire Beneteau; Fouzia Benkerdou; Virginie Bernard; Stéphane Bézieau; Dominique Bonneau; Marie-Noelle Bonnet-Dupeyron; Simon Boussion; Odile Boute; Elise Brischoux-Boucher; Samantha J. Bryen; Julien Buratti; Tiffany Busa; Almuth Caliebe; Yline Capri; Kévin Cassinari; Roseline Caumes; Camille Cenni; Pascal Chambon; Perrine Charles; John Christodoulou; Cindy Colson; Solène Conrad; Auriane Cospain; Juliette Coursimault; Thomas Courtin; Madeline Couse; Charles Coutton; Isabelle Creveaux; Alissa M. D’Gama; Benjamin Dauriat; Jean-Madeleine de Sainte Agathe; Giulia Del Gobbo; Andrée Delahaye-Duriez; Julian Delanne; Anne-Sophie Denommé-Pichon; Anne Dieux-Coeslier; Laura Do Souto Ferreira; Martine Doco-Fenzy; Stephan Drukewitz; Véronique Duboc; Christèle Dubourg; Yannis Duffourd; David Dyment; Salima El Chehadeh; Monique Elmaleh; Laurence Faivre; Samuel Fennelly; Hanna Fischer; Mélanie Fradin; Camille Galludec Vaillant; Benjamin Ganne; Jamal Ghoumid; Himanshu Goel; Zeynep Gokce-Samar; Alice Goldenberg; Romain Gonfreville Robert; Svetlana Gorokhova; Louise Goujon; Victoria Granier; Mathilde Gras; John M. Greally; Bianca Greiten; Paul Gueguen; Anne-Marie Guerrot; Saurav Guha; Anne Guimier; Tobias B. Haack; Hamza Hadj Abdallah; Yosra Halleb; Radu Harbuz; Madeleine Harris; Julia Hentschel; Bénédicte Héron; Marc-Phillip Hitz; A. Micheil Innes; Vincent Jadas; Louis Januel; Nolwenn Jean-Marçais; Vaidehi Jobanputra; Florence Jobic; Ludmila Jornea; Céline Jost; Sophie Julia; Frank J. Kaiser; Daniel Kaschta; Sabine Kaya; Petra Ketteler; Bochra Khadija; Fabian Kilpert; Cordula Knopp; Florian Kraft; Ilona Krey; Marilyn Lackmy; Fanny Laffargue; Laetitia Lambert; Ryan Lamont; Vincent Laugel; Steven Laurie; Julie L. Lauzon; Louis Lebreton; Marine Lebrun; Marine Legendre; Eric Leguern; Daphné Lehalle; Elodie Lejeune; Gaetan Lesca; Marion Lesieur-Sebellin; Jonathan Levy; Agnès Linglart; Stanislas Lyonnet; Kevin Lüthy; Alan S. Ma; Corinne Mach; Jean-Louis Mandel; Lamisse Mansour-Hendili; Julien Marcadier; Victor Marin; Henri Margot; Valentine Marquet; Angèle May; Johannes A. Mayr; Catherine Meridda; Vincent Michaud; Caroline Michot; Gwenael Nadeau; Sophie Naudion; Laetitia Nguyen; Mathilde Nizon; Frédérique Nowak; Sylvie Odent; Valerie Olin; Ikeoluwa A. Osei-Owusu; Matthew Osmond; Katrin Õunap; Laurent Pasquier; Sandrine Passemard; Melissa Pauly; Olivier Patat; Marine Pensec; Laurence Perrin-Sabourin; Florence Petit; Christophe Philippe; Marc Planes; Annapurna Poduri; Céline Poirsier; Antoine Pouzet; Bradley Prince; Clément Prouteau; Aurora Pujol; Caroline Racine; Mélanie Rama; Francis Ramond; Kara Ranguin; Margaux Raway; André Reis; Mathilde Renaud; Nicole Revencu; Anne-Claire Richard; Lucile Riera-Navarro; Rocio Rius; Diana Rodriguez; Agustí Rodriguez-Palmero; Sophie Rondeau; Annika Roser-Unruh; Christelle Rougeot Jung; Hana Safraou; Véronique Satre; Pascale Saugier-Veber; Clément Sauvestre; Elise Schaefer; Wanqing Shao; Ina Schanze; Jan-Ulrich Schlump; Agatha Schlüter Martin; Caroline Schluth-Bolard; Sarah Schuhmann; Christopher Schröder; Monisha Sebastin; Sabine Sigaudy; Malte Spielmann; Marta Spodenkiewicz; Laura St Clair; Julie Steffann; Radka Stoeva; Harald Surowy; Mark A. Tarnopolsky; Calina Todosi; Annick Toutain; Frédéric Tran Mau-Them; Astrid Unterlauft; Julien Van-Gils; Clémence Vanlerberghe; Georgia Vasileiou; Gabriella Vera; André Verdel; Alain Verloes; Yoann Vial; Cédric Vignal; Marie Vincent; Catherine Vincent-Delorme; Aline Vincent-Devulder; Antonio Vitobello; Sacha Weber; Marjolaine Willems; Khaoula Zaafrane-Khachnaoui; Pia Zacher; Lena Zeltner; Alban Ziegler; Wojciech P. Galej; Hélène Dollfus; Christel Thauvin; Kym M. Boycott; Pierre Marijon; Alban Lermine; Valérie Malan; Marlène Rio; Alma Kuechler; Bertrand Isidor; Séverine Drunat; Thomas Smol; Nicolas Chatron; Amélie Piton; Gael Nicolas; Matias Wagner; Rami Abou Jamra; Delphine Héron; Cyril Mignot; Pierre Blanc; Anne O’Donnell-Luria; Nicola Whiffin; Camille Charbonnier; Clément Charenton; Julien Thevenon; Christel Depienne
Nat Genet
Nature Genetics
Nature Genetics
Academic Journal
Anna Gerasimenko; Cyril Mignot; Olivier Naggara; Florence Coulet; Samar Ekram; Solveig Heide; Clarisse Sorato; Maxime Mazowiecki; Laurence Perrin; Chrystelle Colas; Veronica Cusin; Frédéric Caux; Antoine Dardenne; Salima El Chehadeh; Alain Verloes; Hélène Maurey; Alexandra Afenjar; Florence Petit; Stéphane Barete; Odile Boespflug‐Tanguy; Emmanuelle Bourrat; Yline Capri; Viorica Ciorna; Wallid Deb; Diane Doummar; Alexandre Perrier; Alexis Guédon; Emmanuel Houdart; Bertrand Isidor; Marie‐Line Jacquemont; Camille Buffet; Sandra Mercier; Sandrine Passemard; Audrey Riquet; Lyse Ruaud; Elise Schaefer; Delphine Heron; Annouk Bisdorff; Patrick R. Benusiglio
Clinical Genetics. 106:90-94
Academic Journal
Audrey Schalk; Margot A Cousin; Nikita R Dsouza; Thomas D Challman; Karen E Wain; Zoe Powis; Kelly Minks; Aurélien Trimouille; Eulalie Lasseaux; Didier Lacombe; Chloé Angelini; Vincent Michaud; Julien Van-Gils; Nino Spataro; Anna Ruiz; Elizabeth Gabau; Elliot Stolerman; Camerun Washington; Ray Louie; Brendan C Lanpher; Jennifer L Kemppainen; Micheil Innes; Frank Kooy; Marije Meuwissen; Alice Goldenberg; Francois Lecoquierre; Gabriella Vera; Karin E M Diderich; Beth Sheidley; Christelle Moufawad El Achkar; Meredith Park; Fadi F Hamdan; Jacques L Michaud; Ann J Lewis; Christiane Zweier; André Reis; Matias Wagner; Heike Weigand; Hubert Journel; Boris Keren; Sandrine Passemard; Cyril Mignot; Koen van Gassen; Eva H Brilstra; Gina Itzikowitz; Emily O'Heir; Jake Allen; Kirsten A Donald; Bruce Richard Korf; Tammi Skelton; Michelle Thompson; Nathaniel H Robin; Natasha L Rudy; William B Dobyns; Kimberly Foss; Yuri Alexander Zarate; Katherine A Bosanko; Yves Alembik; Benjamin Durand; Frederic Tran Mau-them; Emmanuelle Ranza; Xavier Blanc; Stylianos E Antonarakis; Kirsty McWalter; Erin Torti; Francisca Millan; Amy Dameron; Mari Tokita; Michael T Zimmermann; Eric W Klee; Amelie Piton; Benedicte Gerard
Journal of Medical Genetics. 59:965-975
Academic Journal
Anja van Benthem; Ridha Limame; Matteo Piumatti; Maurine Zaratin; Emir Erkol; Daisuke H. Tanaka; Adèle Herpoel; Angéline Bilheu; Harmen van Benthem; Laura Nebreda Rodriguez; Isabelle Pirson; Kathelijn Keymolen; Suresh Poovathingal; Martyna Ditkowska; Julie Désir; Sandrine Passemard; Marc Abramowicz; Catherine Ledent; Pierre Vanderhaeghen
Academic Journal
Anja van Benthem; Ridha Limame; Matteo Piumatti; Maurine Zaratin; Emir Erkol; Daisuke Tanaka; Adele Herpoel; Angéline Bilheu; Harmen van Benthem; Laura Nebreda; Isabelle Pirson; Kathelijn Keymolen; Suresh Poovathingal; Martyna Ditkowska; Julie Désir; Sandrine Passemard; Marc Abramowicz; Catherine Ledent; Pierre Vanderhaeghen
Academic Journal
Sarah Duerinckx; Valérie Jacquemin; Séverine Drunat; Yoann Vial; Sandrine Passemard; Camille Perazzolo; Annick Massart; Julie Soblet; Judith Racapé; Laurence Desmyter; Cindy Badoer; Sofia Papadimitriou; Yann‐Aël Le Borgne; Anne Lefort; Frédérick Libert; Viviane De Maertelaer; Marianne Rooman; Sabine Costagliola; Alain Verloes; Tom Lenaerts; Isabelle Pirson; Marc Abramowicz
Hum Mutat
Human mutation, vol. 41, no. 2, pp. 512-524
Human mutation, vol. 41, no. 2, pp. 512-524
Academic Journal
Claude Messiaen; Caroline Racine; Ahlem Khatim; Louis Soussand; Sylvie Odent; Didier Lacombe; Sylvie Manouvrier; Patrick Edery; Sabine Sigaudy; David Geneviève; Christel Thauvin-Robinet; Laurent Pasquier; Florence Petit; Massimiliano Rossi; Marjolaine Willems; Tania Attié-Bitach; Pierre-Henry Roux-Levy; Laurent Demougeot; Lilia Ben Slama; Paul Landais; Bruno Leheup; Martine Doco-Fenzy; Céline Poirsier; Marta Spodenkiewicz; Lola Lissy; Audrey Lannoy; Elise Shaefer; Salima El Chehadeh; Jeanne Amiel; Cyril Mignot; Judith Melki; Sandra Whalen; Marilyn Irène Lackmy; Benoit Funalot; Gilles Morin; Marion Gérard; Nicolas Gruchy; Arnaud Molin; Annick Toutain; Stéphanie Arpin; Sophie Blesson; Médéric Jeanne; Bertrand Isidor; Marie Vincent; Mathilde Nizon; Sandra Mercier; Dominique Bonneau; Estelle Colin; Alban Ziegler; Séverine Audebert-Bellanger; Radka Stoeva; Florence Demurger; Julien Thevenon; Christine Francannet; Baptiste Troude; Isabelle Perthus; Damien Haye; Patrick Collignon; Brigitte Gilbert-Dussardier; Frédéric Bilan; Mattieu Egloff; Gwenaël Le Guyader; Pascaline Letard; Elisabeth Sarrazin; Anna-Gaëlle Giguet-Valard; Léna Damaj; Mélanie Fradin; Alinoe Lavillaureix; Nolwenn Jean-Marçais; Godelieve Morel; Chloé Quelin; Sophie Naudion; Marine Legendre; Julien Van-Gils; Caroline Rooryck-Thambo; Odile Boute; Anne Dieux; Catherine Vincent-Delorme; Jamal Ghoumid; Clémence Vanlerberghe; Roseline Caumes; Cindy Colson; Luisa Marsili; Antoine Wyrebski; Laurence Bellengier; Françoise Houdayer; Audrey Putoux; Tiffany Busa; Florence Riccardi; Chantal Missirian; Patricia Blanchet; Christine Coubes; Emmanuelle Haquet; Lucile Pinson; Jacques Puechberty; Constance Wells; Yline Capri; Laurence Perrin; Sandrine Passemard; Lyse Ruand; Sophie Nambot; Julian Delanne; Sébastien Moutton; Arthur Sorlin; Daphné Lehalle; Aurore Garde; Anne-Sophie Jannot; Christine Binquet; Arnaud Sandrin; Alain Verloes; Laurence Faivre
Orphanet J Rare Dis
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-14 (2021)
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-14 (2021)
Academic Journal
Jonathan Lévy; Aurélie Coussement; Céline Dupont; Fabien Guimiot; Clarisse Baumann; Géraldine Viot; Sandrine Passemard; Yline Capri; Séverine Drunat; Alain Verloes; Eva Pipiras; Brigitte Benzacken; Jean‐Michel Dupont; Anne‐Claude Tabet
American Journal of Medical Genetics Part A. 173:2081-2087
Academic Journal
Antoine Poli; Yoann Vial; Damien Haye; Sandrine Passemard; Manuel Schiff; Hala Nasser; Catherine Delanoe; Emma Cuadro; Rémi Kom; Narcisse Elanga; Anne Favre; Séverine Drunat; Alain Verloes
American Journal of Medical Genetics Part A. 173:1936-1942
Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder
Academic Journal
Jeremie Courraud; Eric Chater-Diehl; Benjamin Durand; Marie Vincent; Maria del Mar Muniz Moreno; Imène Boujelbene; Nathalie Drouot; Loréline Genschik; Elise Schaefer; Mathilde Nizon; Bénédicte Gerard; Marc Abramowicz; Benjamin Cogné; Lucas Bronicki; Lydie Burglen; Magalie Barth; Perrine Charles; Estelle Colin; Christine Coubes; Albert David; Bruno Delobel; Florence Demurger; Sandrine Passemard; Anne-Sophie Denommé; Laurence Faivre; Claire Feger; Mélanie Fradin; Christine Francannet; David Genevieve; Alice Goldenberg; Anne-Marie Guerrot; Bertrand Isidor; Katrine M. Johannesen; Boris Keren; Maria Kibæk; Paul Kuentz; Michele Mathieu-Dramard; Bénédicte Demeer; Julia Metreau; Rikke Steensbjerre Møller; Sébastien Moutton; Laurent Pasquier; Kristina Pilekær Sørensen; Laurence Perrin; Mathilde Renaud; Pascale Saugier; Joane Svane; Julien Thevenon; Frederic Tran Mau Them; Cathrine Elisabeth Tronhjem; Antonio Vitobello; Valerie Layet; Marie-Christine Birling; Severine Drunat; Allan Bayat; Christèle Dubourg; Salima El Chehadeh; Christina Fagerberg; Cyril Mignot; Michel Guipponi; Thierry Bienvenu; Yann Herault; Julie Thompson; Marjolaine Willems; Jean-Louis Mandel; Rosanna Weksberg; Amélie Piton
Academic Journal
Sarah Duerinckx; Julie Désir; Camille Perazzolo; Cindy Badoer; Valérie Jacquemin; Julie Soblet; Isabelle Maystadt; Yusuf Tunca; Bettina Blaumeiser; Berten Ceulemans; Winnie Courtens; François-Guillaume Debray; Anne Destree; Koen Devriendt; Anna Jansen; Kathelijn Keymolen; Damien Lederer; Bart Loeys; Gert Matthijs; Marije Meuwissen; Stéphanie Moortgat; Geert Mortier; Marie-Cécile Nassogne; Tayeb Sekhara; Rudy van Coster; Jenneke Van den Ende; Nathalie Van der Aa; Hilde Van Esch; Olivier Vanakker; Helene Verhelst; Catheline Vilain; Sarah Weckhuysen; Sandrine PASSEMARD; alain verloes; Alec Aeby; Nicolas Deconinck; Patrick Van Bogaert; Isabelle Pirson; Marc Abramowicz
Academic Journal
Audrey Schalk; Margot A. Cousin; Thomas D. Challman; Karen E. Wain; Zöe Powis; Kelly Minks; Aurélien Trimouille; Eulalie Lasseaux; Didier Lacombre; Chloé Angelini; Vincent Michaud; Julien Van-Gils; Nino Spataro; Anna Ruiz; Elizabeth Gabau; Elliot Stolerman; Camerun Washington; Raymond J. Louie; Brendan C Lanpher; Jennifer L. Kemppainen; A. Micheil Innes; R. Frank Kooy; Marije Meuwissen; Alice Goldenberg; François Lecoquierre; Gabriella Vera; Karin E M Diderich; Beth Rosen Sheidley; Christelle Moufawad El Achkar; Meredith Park; Fadi F. Hamdan; Jacques L. Michaud; Ann J. Lewis; Christiane Zweier; André Reis; Matias Wagner; Heike Weigand; Hubert Journel; Boris Keren; Sandrine Passemard; Cyril Mignot; Koen L.I. van Gassen; Eva H. Brilstra; Gina Itzikowitz; Emily O’Heir; Jake Allen; Kirsten A. Donald; Bruce R. Korf; Tammi Skelton; Michelle L Thompson; Nathaniel H. Robin; Natasha Rudy; William B. Dobyns; Kimberly Foss; Yuri A Zarate; Katherine A. Bosanko; Yves Alembik; Benjamin Durand; Frédéric Tran Mau-Them; Emmanuelle Ranza; Xavier Blanc; Stylianos E. Antonarakis; Kirsty McWalter; Erin Torti; Francisca Millan; Amy Dameron; Mari J. Tokita; Michael T. Zimmermann; Nikita R. Dsouza; Eric W. Klee; Amélie Piton; Bénédicte Gerard
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[AR] Sandrine Passemard
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