Sabine Sigaudy
AuthID: R-00G-CQW
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; ...More
PUBLISHED: 2023, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 18, ISSUE: 1
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; ...More
PUBLISHED: 2023, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 18, ISSUE: 1
INDEXED IN: 
Scopus 
WOS
Scopus WOS2
TITLE: Schimke immunoosseous dysplasia: defining skeletal features Full Text
AUTHORS: Kshamta B Hunter; Thomas Luecke; Juergen Spranger; Sarah F Smithson; Harika Alpay; Jean Luc Andre; Yumi Asakura; Radovan Bogdanovic; Dominique Bonneau; Robyn Cairns; Karlien Cransberg; Stefan Fruend; Helen Fryssira; David Goodman; Knut Helmke; Barbara Hinkelmann; Guiliana Lama; Petra Lamfers; Chantal Loirat; Silvia Majore; ...More
PUBLISHED: 2010, SOURCE: EUROPEAN JOURNAL OF PEDIATRICS, VOLUME: 169, ISSUE: 7
AUTHORS: Kshamta B Hunter; Thomas Luecke; Juergen Spranger; Sarah F Smithson; Harika Alpay; Jean Luc Andre; Yumi Asakura; Radovan Bogdanovic; Dominique Bonneau; Robyn Cairns; Karlien Cransberg; Stefan Fruend; Helen Fryssira; David Goodman; Knut Helmke; Barbara Hinkelmann; Guiliana Lama; Petra Lamfers; Chantal Loirat; Silvia Majore; ...More
PUBLISHED: 2010, SOURCE: EUROPEAN JOURNAL OF PEDIATRICS, VOLUME: 169, ISSUE: 7
3
TITLE: Schimke immunoosseous dysplasia: Suggestions of genetic diversity Full Text
AUTHORS: Marietta M Clewing; Helen Fryssira; David Goodman; Sarah F Smithson; Emily A Sloan; Shu Lou; Yan Huang; Kunho Chow; Thomas Luecke; Harika Alpay; Jean Luc Andre; Yumi Asakura; Nathalie Biebuyck Gouge; Radovan Bogdanovic; Dominique Bonneau; Caterina Cancrini; Pierre Cochat; Sandra Cockfield; Laure Collard; Isabel Cordeiro; ...More
PUBLISHED: 2007, SOURCE: HUMAN MUTATION, VOLUME: 28, ISSUE: 3
AUTHORS: Marietta M Clewing; Helen Fryssira; David Goodman; Sarah F Smithson; Emily A Sloan; Shu Lou; Yan Huang; Kunho Chow; Thomas Luecke; Harika Alpay; Jean Luc Andre; Yumi Asakura; Nathalie Biebuyck Gouge; Radovan Bogdanovic; Dominique Bonneau; Caterina Cancrini; Pierre Cochat; Sandra Cockfield; Laure Collard; Isabel Cordeiro; ...More
PUBLISHED: 2007, SOURCE: HUMAN MUTATION, VOLUME: 28, ISSUE: 3
