1
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
2
TITLE: Vosoritide Therapy in Children with Achondroplasia: Early Experience and Practical Considerations for Clinical Practice  Full Text
AUTHORS: Semler, Oliver; Cormier Daire, Valerie; Lausch, Ekkehart; Bober, Michael B.; Carroll, Ricki; Sousa, Sergio B.; Deyle, David; Faden, Maha; Hartmann, Gabriele; Huser, Aaron J.; Legare, Janet M.; Mohnike, Klaus; Rohrer, Tilman R.; Rutsch, Frank; Smith, Pamela; Travessa, Andre M.; Verardo, Angela; White, Klane K.; Wilcox, William R.; Hoover Fong, Julie;
PUBLISHED: 2023, SOURCE: ADVANCES IN THERAPY
INDEXED IN: Scopus WOS
3
TITLE: Real-world data in children with achondroplasia after licensing of Vosoritide
AUTHORS: Palm, Katja; Bechthold Dalla Pozza, Susanne; Gausche, Ruth; Hoegler, Wolfgang; Hoyer Kuhn, Heike; Huebner, Angela; Keller, Alexandra; Mirante, Alice; Mohnike, Klaus; Muschol, Nicole; Nader, Sean; Pfaeffle, Roland; Quitter, Friederike; Rohrer, Tilmann; Rutsch, Frank; Schnabel, Dirk; Semler, Oliver; Silva, Isabel; Sousa, Sergio B.; Voelkl, Thomas M. K.; Wechsung, Katja; Weigel, Johannes; Woelffle, Joachim; Lausch, Ekkehart; ...More
PUBLISHED: 2022, SOURCE: HORMONE RESEARCH IN PAEDIATRICS, VOLUME: 95, ISSUE: SUPPL 2
INDEXED IN: WOS
4
TITLE: Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta
AUTHORS: Shahida Moosa; Guilherme L Yamamoto; Lutz Garbes; Katharina Keupp; Ana Beleza Meireles; Carolina Araujo Moreno; Eugenia Ribeiro Valadares; Sergio B de Sousa; Sofia Maia; Jorge Saraiva; Rachel S Honjo; Chong Ae Kim; Hamilton Cabral de Menezes; Ekkehart Lausch; Pablo Villavicencio Lorini; Arsonval Lamounier; Tulio Canella B Bezerra Carniero; Cecilia Giunta; Marianne Rohrbach; Marco Janner; Oliver Semler; Filippo Beleggia; Yun Li; Goekhan Yigit; Nadine Reintjes; Janine Altmueller; Peter Nuernberg; Denise P Cavalcanti; Bernhard Zabel; Matthew L Warman; Debora R Bertola; Bernd Wollnik; Christian Netzer; ...More
PUBLISHED: 2019, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 105, ISSUE: 4
INDEXED IN: Scopus WOS