학술논문
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'학술논문'
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1~20
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
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
Miriam Larouche; Jean Bergeron; Diane Brisson; Nathalie Laflamme; Noémie Audet-Verreault; Claire Sharon; Sybil Charrière; Melanie Rama; Delphine Collin-Chavagnac; Philippe Moulin; Daniel Gaudet
The Journal of Clinical Endocrinology & Metabolism.
Academic Journal
Camille Langlois; Melanie Rama; Oriane Marmontel; Delphine Collin-Chavagnac; Mathilde Di Filippo; Bertrand Cariou; Sophie Beliard; Rene Valero; Philippe Moulin; Sybil Charrière
Atherosclerosis. 407:119842
Academic Journal
Miriam Larouche; Jean Bergeron; Diane Brisson; Nathalie Laflamme; Noémie Audet-Verreault; Claire Sharon; Sybil Charrière; Christophe Marçais; Melanie Rama; Delphine Colin Chavagnac; Philippe Moulin; Daniel Gaudet
Atherosclerosis. 407:119612
Academic Journal
Juliette Coursimault; Kévin Cassinari; François Lecoquierre; Olivier Quenez; Sophie Coutant; Céline Derambure; Myriam Vezain; Nathalie Drouot; Gabriella Vera; Elise Schaefer; Anaïs Philippe; Bérénice Doray; Laëtitia Lambert; Jamal Ghoumid; Thomas Smol; Mélanie Rama; Marine Legendre; Didier Lacombe; Patricia Fergelot; Robert Olaso; Anne Boland; Jean‐François Deleuze; Alice Goldenberg; Pascale Saugier‐Veber; Gaël Nicolas
Human Mutation. 43:1882-1897
Academic Journal
Jonathan Lévy; Bérénice Schell; Hala Nasser; Myriam Rachid; Lyse Ruaud; Nathalie Couque; Patrick Callier; Laurence Faivre; Nathalie Marle; Aafke Engwerda; Conny M. A. van Ravenswaaij‐Arts; Morgane Plutino; Houda Karmous‐Benailly; Caroline Benech; Sylvia Redon; Odile Boute; Elise Boudry Labis; Mélanie Rama; Paul Kuentz; Jessica Assoumani; Lionel Van Maldergem; Céline Dupont; Alain Verloes; Anne‐Claude Tabet
Clinical Genetics. 100:396-404
Academic Journal
Pauline Planté-Bordeneuve; Simon Boussion; Roseline Caumes; Mélanie Rama; Caroline Thuillier; Odile Boute-Benejean; Catherine Vincent-Delorme; Emilie Ait-Yahya; Bruno Delobel; Jamal Ghoumid; Thomas Smol
European Journal of Medical Genetics. 73:104987
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
Mario Nappi; Vincenzo Barrese; Lidia Carotenuto; Gaetan Lesca; Audrey Labalme; Dorothee Ville; Thomas Smol; Mélanie Rama; Anne Dieux-Coeslier; Clotilde Rivier-Ringenbach; Maria Virginia Soldovieri; Paolo Ambrosino; Ilaria Mosca; Michael Pusch; Francesco Miceli; Maurizio Taglialatela
Proc Natl Acad Sci U S A
Proceedings of the National Academy of Sciences of the United States of America 119 (2022). doi:10.1073/pnas.2116887119
info:cnr-pdr/source/autori:Nappi Mario, Barrese Vincenzo, Carotenuto Lidia, Lesca Gaetan, Labalme Audrey, Ville Dorothee, Smol Thomas, Rama Melanie, Dieux-Coeslier Anne, Rivier-Ringenbach Clotilde, Soldovieri Maria Virginia, Ambrosino Paolo, Mosca Ilaria, Pusch Michael, Miceli Francesco and Taglialatela Maurizio/titolo:Gain of function due to increased opening probability by two KCNQ5 pore variants causing developmental and epileptic encephalopathy/doi:10.1073%2Fpnas.2116887119/rivista:Proceedings of the National Academy of Sciences of the United States of America/anno:2022/pagina_da:/pagina_a:/intervallo_pagine:/volume:119
Proceedings of the National Academy of Sciences of the United States of America 119 (2022). doi:10.1073/pnas.2116887119
info:cnr-pdr/source/autori:Nappi Mario, Barrese Vincenzo, Carotenuto Lidia, Lesca Gaetan, Labalme Audrey, Ville Dorothee, Smol Thomas, Rama Melanie, Dieux-Coeslier Anne, Rivier-Ringenbach Clotilde, Soldovieri Maria Virginia, Ambrosino Paolo, Mosca Ilaria, Pusch Michael, Miceli Francesco and Taglialatela Maurizio/titolo:Gain of function due to increased opening probability by two KCNQ5 pore variants causing developmental and epileptic encephalopathy/doi:10.1073%2Fpnas.2116887119/rivista:Proceedings of the National Academy of Sciences of the United States of America/anno:2022/pagina_da:/pagina_a:/intervallo_pagine:/volume:119
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[AR] Mélanie Rama
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