ProfileOfResearchers

TÃTULO: Real-world evidence in achondroplasia: considerations for a standardized data set Full Text
AUTORES: 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; ...Mais
PUBLICAÇÃO: 2023, FONTE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 18, NÚMERO: 1

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TÃTULO: Schimke immunoosseous dysplasia: defining skeletal features Full Text
AUTORES: 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; Christy Mayfield; Bertram F Pontz; Cristina Rusu; Jorge M Saraiva; Beate Schmidt; Lawrence Shoemaker; Sabine Sigaudy; Natasa Stajic; Doris Taha; Cornelius F Boerkoel; ...Mais
PUBLICAÇÃO: 2010, FONTE: EUROPEAN JOURNAL OF PEDIATRICS, VOLUME: 169, NÚMERO: 7

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TÃTULO: Schimke immunoosseous dysplasia: Suggestions of genetic diversity Full Text
AUTORES: 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; Valerie Cormier Daire; Karlien Cransberg; Karel Cutka; Georges Deschenes; Jochen H H Ehrich; Stefan Frund; Helen Georgaki; Encarna Guillen Navarro; Barbara Hinkelmann; Maria Kanariou; Belde Kasap; Sara Sebnem Kilic; Guiliana Lama; Petra Lamfers; Chantal Loirat; Silvia Majore; David Milford; Denis Morin; Nihal Ozdemir; Bertram F Pontz; Willem Proesmans; Stavroula Psoni; Herbert Reichenbach; Silke Reif; Cristina Rusu; Jorge M Saraiva; Onur Sakallioglu; Beate Schmidt; Lawrence Shoemaker; Sabine Sigaudy; Graham Smith; Flora Sotsiou; Natasa Stajic; Anja Stein; Asbjorg Stray Pedersen; Doris Taha; Sophie Taque; Jane Tizard; Michel Tsimaratos; Newton A C S Wong; Cornelius F Boerkoel; ...Mais
PUBLICAÇÃO: 2007, FONTE: HUMAN MUTATION, VOLUME: 28, NÚMERO: 3

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