학술논문
'학술논문'
에서 검색결과 16건 | 목록
1~10
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
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
Agnes Bloch-Zupan; Tristan Rey; Alexandra Jimenez-Armijo; Marzena Kawczynski; Naji Kharouf; O-Rare consortium; Muriel de La Dure-Molla; Emmanuelle Noirrit; Magali Hernandez; Clara Joseph-Beaudin; Serena Lopez; Corinne Tardieu; Béatrice Thivichon-Prince; ERN Cranio Consortium; Tatjana Dostalova; Milan Macek; International Consortium; Mustapha El Alloussi; Leila Qebibo; Supawich Morkmued; Patimaporn Pungchanchaikul; Blanca Urzúa Orellana; Marie-Cécile Manière; Bénédicte Gérard; Isaac Maximiliano Bugueno; Virginie Laugel-Haushalter; Yves Alembik; Victorin Ahossi; Isabelle Bailleul-Forestier; Isabelle Blanchet; Ariane Berdal; Marie José Boileau; Nicolas Chassaing; François Clauss; Caroline Delfosse; Anne De-Saint-Martin; Jean-Christophe Dahlet; Bérénice Doray; Jean-Luc Davideau; Tiphaine Davit-Béal; Hélène Dollfus; Jean-Pierre Duprez; Muriel de La Dure Molla; Klauss Dieterich; Dominique Droz; Salima El Chehadeh; Olivier Etienne; Edouard Euvrard; Laurence Faivre; Benjamin Fournier; Elsa Garot; Bruno Grollemund; Nathalie Guffon-Fouilhoux; Mathilde Huckert; Bertand Isidor; Sophie Jung; Didier Lacombe; Alinoe Lavillaurex; Marine Lebrun; Bruno Leheup; Adeline Loing; Sandrine Marlin; Jean-Jacques Morrier; Michèle Muller-Bolla; Sylvie Odent; Marie Paule Gelle; Juliette Piard; Linda Pons; Béatrice Richard; Massimiliano Rossi; Prune Sadones; Elise Schaefer; Jean-Louis Sixou; Sylvie Soskin; Marion Strub; Annick Toutain; Alain Verloes; Frédéric Vaysse; Delphine Wagner
Frontiers in Physiology, Vol 14 (2023)
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
Adam Jackson; Sheng-Jia Lin; Elizabeth A. Jones; Kate E. Chandler; David Orr; Celia Moss; Zahra Haider; Gavin Ryan; Simon Holden; Mike Harrison; Nigel Burrows; Wendy D. Jones; Mary Loveless; Cassidy Petree; Helen Stewart; Karen Low; Deirdre Donnelly; Simon Lovell; Konstantina Drosou; Gaurav K. Varshney; Siddharth Banka; J.C. Ambrose; P. Arumugam; R. Bevers; M. Bleda; F. Boardman-Pretty; C.R. Boustred; H. Brittain; M.A. Brown; M.J. Caulfield; G.C. Chan; A. Giess; J.N. Griffin; A. Hamblin; S. Henderson; T.J.P. Hubbard; R. Jackson; L.J. Jones; D. Kasperaviciute; M. Kayikci; A. Kousathanas; L. Lahnstein; A. Lakey; S.E.A. Leigh; I.U.S. Leong; F.J. Lopez; F. Maleady-Crowe; M. McEntagart; F. Minneci; J. Mitchell; L. Moutsianas; M. Mueller; N. Murugaesu; A.C. Need; P. O‘Donovan; C.A. Odhams; C. Patch; D. Perez-Gil; M.B. Pereira; J. Pullinger; T. Rahim; A. Rendon; T. Rogers; K. Savage; K. Sawant; R.H. Scott; A. Siddiq; A. Sieghart; S.C. Smith; A. Sosinsky; A. Stuckey; M. Tanguy; A.L. Taylor Tavares; E.R.A. Thomas; S.R. Thompson; A. Tucci; M.J. Welland; E. Williams; K. Witkowska; S.M. Wood; M. Zarowiecki; Olaf Riess; Tobias B. Haack; Holm Graessner; Birte Zurek; Kornelia Ellwanger; Stephan Ossowski; German Demidov; Marc Sturm; Julia M. Schulze-Hentrich; Rebecca Schüle; Christoph Kessler; Melanie Wayand; Matthis Synofzik; Carlo Wilke; Andreas Traschütz; Ludger Schöls; Holger Hengel; Peter Heutink; Han Brunner; Hans Scheffer; Nicoline Hoogerbrugge; Alexander Hoischen; Peter A.C. ’t Hoen; Lisenka E.L.M. Vissers; Christian Gilissen; Wouter Steyaert; Karolis Sablauskas; Richarda M. de Voer; Erik-Jan Kamsteeg; Bart van de Warrenburg; Nienke van Os; Iris te Paske; Erik Janssen; Elke de Boer; Marloes Steehouwer; Burcu Yaldiz; Tjitske Kleefstra; Anthony J. Brookes; Colin Veal; Spencer Gibson; Marc Wadsley; Mehdi Mehtarizadeh; Umar Riaz; Greg Warren; Farid Yavari Dizjikan; Thomas Shorter; Ana Töpf; Volker Straub; Chiara Marini Bettolo; Sabine Specht; Jill Clayton-Smith; Elizabeth Alexander; Laurence Faivre; Christel Thauvin; Antonio Vitobello; Anne-Sophie Denommé-Pichon; Yannis Duffourd; Emilie Tisserant; Ange-Line Bruel; Christine Peyron; Aurore Pélissier; Sergi Beltran; Ivo Glynne Gut; Steven Laurie; Davide Piscia; Leslie Matalonga; Anastasios Papakonstantinou; Gemma Bullich; Alberto Corvo; Carles Garcia; Marcos Fernandez-Callejo; Carles Hernández; Daniel Picó; Ida Paramonov; Hanns Lochmüller; Gulcin Gumus; Virginie Bros-Facer; Ana Rath; Marc Hanauer; Annie Olry; David Lagorce; Svitlana Havrylenko; Katia Izem; Fanny Rigour; Giovanni Stevanin; Alexandra Durr; Claire-Sophie Davoine; Léna Guillot-Noel; Anna Heinzmann; Giulia Coarelli; Gisèle Bonne; Teresinha Evangelista; Valérie Allamand; Isabelle Nelson; Rabah Ben Yaou; Corinne Metay; Bruno Eymard; Enzo Cohen; Antonio Atalaia; Tanya Stojkovic; Milan Macek, Jr.; Marek Turnovec; Dana Thomasová; Radka Pourová Kremliková; Vera Franková; Markéta Havlovicová; Vlastimil Kremlik; Helen Parkinson; Thomas Keane; Dylan Spalding; Alexander Senf; Peter Robinson; Daniel Danis; Glenn Robert; Alessia Costa; Christine Patch; Mike Hanna; Henry Houlden; Mary Reilly; Jana Vandrovcova; Francesco Muntoni; Irina Zaharieva; Anna Sarkozy; Vincent Timmerman; Jonathan Baets; Liedewei Van de Vondel; Danique Beijer; Peter de Jonghe; Vincenzo Nigro; Sandro Banfi; Annalaura Torella; Francesco Musacchia; Giulio Piluso; Alessandra Ferlini; Rita Selvatici; Rachele Rossi; Marcella Neri; Stefan Aretz; Isabel Spier; Anna Katharina Sommer; Sophia Peters; Carla Oliveira; Jose Garcia Pelaez; Ana Rita Matos; Celina São José; Marta Ferreira; Irene Gullo; Susana Fernandes; Luzia Garrido; Pedro Ferreira; Fátima Carneiro; Morris A. Swertz; Lennart Johansson; Joeri K. van der Velde; Gerben van der Vries; Pieter B. Neerincx; Dieuwke Roelofs-Prins; Sebastian Köhler; Alison Metcalfe; Alain Verloes; Séverine Drunat; Caroline Rooryck; Aurelien Trimouille; Raffaele Castello; Manuela Morleo; Michele Pinelli; Alessandra Varavallo; Manuel Posada De la Paz; Eva Bermejo Sánchez; Estrella López Martín; Beatriz Martínez Delgado; F. Javier Alonso García de la Rosa; Andrea Ciolfi; Bruno Dallapiccola; Simone Pizzi; Francesca Clementina Radio; Marco Tartaglia; Alessandra Renieri; Elisa Benetti; Peter Balicza; Maria Judit Molnar; Ales Maver; Borut Peterlin; Alexander Münchau; Katja Lohmann; Rebecca Herzog; Martje Pauly; Alfons Macaya; Anna Marcé-Grau; Andres Nascimiento Osorio; Daniel Natera de Benito; Rachel Thompson; Kiran Polavarapu; David Beeson; Judith Cossins; Pedro M. Rodriguez Cruz; Peter Hackman; Mridul Johari; Marco Savarese; Bjarne Udd; Rita Horvath; Gabriel Capella; Laura Valle; Elke Holinski-Feder; Andreas Laner; Verena Steinke-Lange; Evelin Schröck; Andreas Rump
HGG Advances, Vol 4, Iss 2, Pp 100186- (2023)
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; the AnDDI-Rares network; Anne-Sophie Jannot; Christine Binquet; Arnaud Sandrin; Alain Verloes; Laurence Faivre
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-14 (2021)
Academic Journal
Molecular Genetics & Genomic Medicine, Vol 10, Iss 6, Pp n/a-n/a (2022)
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
Michael Smith; Elizabeth Alexander; Ruta Marcinkute; Dorica Dan; Myfanwy Rawson; Siddharth Banka; Jason Gavin; Hany Mina; Con Hennessy; Florence Riccardi; Francesca Clementina Radio; Marketa Havlovicova; Matteo Cassina; Adela Chirita Emandi; Melanie Fradin; Lianne Gompertz; Ann Nordgren; Rasa Traberg; Massimiliano Rossi; Aurelién Trimouille; Rasika Sowmyalakshmi; Bruno Dallapiccola; Alessandra Renieri; Laurence Faivre; Bronwyn Kerr; Alain Verloes; Jill Clayton-Smith; Sofia Douzgou; on behalf of ERN ITHACA
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)
Academic Journal
Julie Masson; Caroline Demily; Nicolas Chatron; Audrey Labalme; Pierre-Antoine Rollat-Farnier; Caroline Schluth-Bolard; Brigitte Gilbert-Dussardier; Fabienne Giuliano; Renaud Touraine; Sylvie Tordjman; Alain Verloes; Giuseppe Testa; Damien Sanlaville; Patrick Edery; Gaetan Lesca; Massimiliano Rossi
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-6 (2019)
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[AR] Alain Verloes
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