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TITLE: Real-world evidence in achondroplasia: considerations for a standardized data set  Full Text
AUTHORS: Alanay, Yasemin; Mohnike, Klaus; Nilsson, Ola; Alves, Ines; AlSayed, Moeenaldeen; Appelman Dijkstra, Natasha M.; Baujat, Genevieve; Ben Omran, Tawfeg; Breyer, Sandra; Cormier Daire, Valerie; Gregersen, Pernille Axel; Guillen Navarro, Encarna; Hoegler, Wolfgang; Maghnie, Mohamad; Mukherjee, Swati; Cohen, Shelda; Pimenta, Jeanne; Selicorni, Angelo; Semler, J. Oliver; Sigaudy, Sabine; Popkov, Dmitry; Sabir, Ian; Noval, Susana; Sessa, Marco; Irving, Melita; ...More
PUBLISHED: 2023, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 18, ISSUE: 1
INDEXED IN: Scopus WOS
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TITLE: European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis  Full Text
AUTHORS: Irving, Melita; AlSayed, Moeenaldeen; Arundel, Paul; Baujat, Genevieve; Ben Omran, Tawfeg; Boero, Silvio; Cormier Daire, Valerie; Fredwall, Svein; Guillen Navarro, Encarna; Hoyer Kuhn, Heike; Kunkel, Philip; Lampe, Christian; Maghnie, Mohamad; Mohnike, Klaus; Mortier, Geert; Sousa, Sergio B.;
PUBLISHED: 2023, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 18, ISSUE: 1
INDEXED IN: WOS
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TITLE: Expanding the Skeletal Phenotype of Loeys-Dietz Syndrome  Full Text
AUTHORS: Sergio B Sousa; Karen Lambot Juhan; Marlene Rio; Genevieve Baujat; Vicken Topouchian; Nadine Hanna; Martine Le Merrer; Francis Brunelle; Arnold Munnich; Catherine Boileau; Valerie Cormier Daire;
PUBLISHED: 2011, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 155A, ISSUE: 5
INDEXED IN: Scopus WOS CrossRef: 10
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TITLE: Postnatal Growth Retardation, Facial Dysmorphism, Spondylocarpal Synostosis, Cardiac Defect, and Inner Ear Malformation (Cardiospondylocarpofacial Syndrome?)-A Distinct Syndrome?  Full Text
AUTHORS: Sergio B Sousa; Genevieve Baujat; Veronique Abadie; Damien Bonnet; Daniel Sidi; Arnold Munnich; Deborah Krakow; Valerie Cormier Daire;
PUBLISHED: 2010, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 152A, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef: 3