Evidence for therapeutic use of cannabidiol for nail-patella syndrome-induced pain in a real-world pilot study by Thibaud Lebret, Séverine Hatton, Jacques Callebert, Valérie Cormier-Daire, Céline Greco

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Determinants of dental care use in patients with rare diseases: a qualitative exploration by Lisa Friedlander, Ariane Berdal, Valérie Cormier-Daire, Stanislas Lyonnet, Nicolas Garcelon

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Osteogenesis Imperfecta: A study of the patient journey in 13 European countries by Ingunn Westerheim, Valerie Cormier-Daire, Scott Gilbert, Sean O’Malley, Richard Keen

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Consideration of oral health in rare disease expertise centres: a retrospective study on 39 rare diseases using text mining extraction method by Lisa Friedlander, Marc Vincent, Ariane Berdal, Valérie Cormier-Daire, Stanislas Lyonnet, Nicolas Garcelon

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Low-dose non-steroidal anti-inflammatory drugs: a promising approach for the treatment of symptomatic bone marrow failure in Ghosal hematodiaphyseal dysplasia by Jonathan Bordat, Felipe Suarez, Valérie Cormier-Daire, Regis Peffault de Latour, Jean Soulier, Veronique Meignin, Mathilde Doyard, Lise Larcher, Stephane Vanderbecken, Flore Sicre de Fontbrune

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Natural history of Myhre syndrome by David Dawei Yang, Marlene Rio, Caroline Michot, Nathalie Boddaert, Wael Yacoub, Nicolas Garcelon, Briac Thierry, Damien Bonnet, Sophie Rondeau, Dominique Herve, Stephanie Guey, Francois Angoulvant, Valerie Cormier-Daire

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P194: Persistence of growth promoting effects in children with achondroplasia over seven years: Update from phase II extension study with vosoritide* by Julie Hoover-Fong, Melita Irving, Carlos Bacino, Joel Charrow, Valérie Cormier-Daire, Lynda Polgreen, Paul Harmatz, Alice Huntsman-Labed, Elena Fisheleva, Ian Sabir, Jonathan Day, John Phillips, Ravi Savarirayan

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The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia. by Cybel Mehawej, Agnès Delahodde, Laurence Legeai-Mallet, Valérie Delague, Nabil Kaci, Jean-Pierre Desvignes, Zoha Kibar, José-Mario Capo-Chichi, Eliane Chouery, Arnold Munnich, Valérie Cormier-Daire, André Mégarbané

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Craniofacial growth and function in achondroplasia: a multimodal 3D study on 15 patients by Anne Morice, Maxime Taverne, Sophie Eché, Lucie Griffon, Brigitte Fauroux, Nicolas Leboulanger, Vincent Couloigner, Geneviève Baujat, Valérie Cormier-Daire, Arnaud Picard, Laurence Legeai-Mallet, Natacha Kadlub, Roman Hossein Khonsari

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Objectivizing issues in the diagnosis of complex rare diseases: lessons learned from testing existing diagnosis support systems on ciliopathies by Carole Faviez, Xiaoyi Chen, Nicolas Garcelon, Mohamad Zaidan, Katy Billot, Friederike Petzold, Hassan Faour, Maxime Douillet, Jean-Michel Rozet, Valérie Cormier-Daire, Tania Attié-Bitach, Stanislas Lyonnet, Sophie Saunier, Anita Burgun

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Literature review and expert opinion on the impact of achondroplasia on medical complications and health-related quality of life and expectations for long-term impact of vosoritide... by Ravi Savarirayan, Wagner Baratela, Thomas Butt, Valérie Cormier-Daire, Melita Irving, Bradley S. Miller, Klaus Mohnike, Keiichi Ozono, Ron Rosenfeld, Angelo Selicorni, Dominic Thompson, Klane K. White, Michael Wright, Svein O. Fredwall

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P144: Persistence of growth-promoting effects in children with achondroplasia up to 7 years: Update from phase 2 extension study with vosoritide* by Julie Hoover-Fong, Melita Irving, Carlos Bacino, Joel Charrow, Carlos Prada, Valerie Cormier-Daire, Lynda Polgreen, Paul Harmatz, Sajda Ghani, Elena Fisheleva, Andrea Low, Jonathan Day, John Phillips, III, Ravi Savarirayan

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Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendations by Valerie Cormier-Daire, Moeenaldeen AlSayed, Inês Alves, Joana Bengoa, Tawfeg Ben-Omran, Silvio Boero, Svein Fredwall, Catherine Garel, Encarna Guillen-Navarro, Melita Irving, Christian Lampe, Mohamad Maghnie, Geert Mortier, Sérgio B. Sousa, Klaus Mohnike

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European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis by Melita Irving, Moeenaldeen AlSayed, Paul Arundel, Geneviève Baujat, Tawfeg Ben-Omran, Silvio Boero, Valérie Cormier-Daire, Svein Fredwall, Encarna Guillen-Navarro, Heike Hoyer-Kuhn, Philip Kunkel, Christian Lampe, Mohamad Maghnie, Klaus Mohnike, Geert Mortier, Sérgio B. Sousa

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P339: Vosoritide therapy in patients with achondroplasia: Early experience and practical considerations for clinical practice by Oliver Semler, Valérie Cormier-Daire, Ekkehart Lausch, Michael Bober, Ricki Carroll, Sérgio Sousa, David Deyle, Maha Faden, Gabriele Hartmann, Aaron Huser, Janet Legare, Klaus Mohnike, Tilman Rohrer, Frank Rutsch, Pamela Smith, Andre Travessa, Angela Verado, Klane White, William Wilcox, Julie Hoover-Fong

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Next generation phenotyping for diagnosis and phenotype–genotype correlations in Kabuki syndrome by Quentin Hennocq, Marjolaine Willems, Jeanne Amiel, Stéphanie Arpin, Tania Attie-Bitach, Thomas Bongibault, Thomas Bouygues, Valérie Cormier-Daire, Pierre Corre, Klaus Dieterich, Maxime Douillet, Jean Feydy, Eva Galliani, Fabienne Giuliano, Stanislas Lyonnet, Arnaud Picard, Thantrira Porntaveetus, Marlène Rio, Flavien Rouxel, Vorasuk Shotelersuk, Annick Toutain, Kevin Yauy, David Geneviève, Roman H. Khonsari, Nicolas Garcelon

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Real-world evidence in achondroplasia: considerations for a standardized data set by Yasemin Alanay, Klaus Mohnike, Ola Nilsson, Inês Alves, Moeenaldeen AlSayed, Natasha M. Appelman-Dijkstra, Genevieve Baujat, Tawfeg Ben-Omran, Sandra Breyer, Valerie Cormier-Daire, Pernille Axél Gregersen, Encarna Guillén-Navarro, Wolfgang Högler, Mohamad Maghnie, Swati Mukherjee, Shelda Cohen, Jeanne Pimenta, Angelo Selicorni, J. Oliver Semler, Sabine Sigaudy, Dmitry Popkov, Ian Sabir, Susana Noval, Marco Sessa, Melita Irving

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Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies by Ravi Savarirayan, Josep Maria De Bergua, Paul Arundel, Helen McDevitt, Valerie Cormier-Daire, Vrinda Saraff, Mars Skae, Borja Delgado, Antonio Leiva-Gea, Fernando Santos-Simarro, Jean Pierre Salles, Marc Nicolino, Massimiliano Rossi, Peter Kannu, Michael B. Bober, John Phillips, Howard Saal, Paul Harmatz, Christine Burren, Garrett Gotway, Terry Cho, Elena Muslimova, Richard Weng, Daniela Rogoff, Julie Hoover-Fong, Melita Irving

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