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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

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2

TITLE: Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia
AUTHORS: Slimane Allali; Carine Le Goff; Isabelle Pressac Diebold; Gwendoline Pfennig; Clementine Mahaut; Nathalie Dagoneau; Yasemin Alanay; Angela F Brady; Yanick J Crow; Koen Devriendt; Valerie Drouin Garraud; Elisabeth Flori; David Genevieve; Raoul C Hennekam; Jane Hurst; Deborah Krakow; Martine Le Merrer; Klaske D Lichtenbelt; Sally A Lynch; Stanislas Lyonnet; Kay MacDermot; Sahar Mansour; Andre Megarbane; Heloisa G Santos; Miranda Splitt; Andrea Superti Furga; Sheila Unger; Denise Williams; Arnold Munnich; Valerie Cormier Daire; ...More
PUBLISHED: 2011, SOURCE: JOURNAL OF MEDICAL GENETICS, VOLUME: 48, ISSUE: 6

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