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TITLE: Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?  Full Text
AUTHORS: Marie Morimoto; Zhongxin X Yu; Peter Stenzel; Marietta M Clewing; Behzad Najafian; Christy Mayfield; Glenda Hendson; Justin G Weinkauf; Andrew K Gormley; David M Parham; Umakumaran Ponniah; Jean Luc Andre; Yumi Asakura; Mitra Basiratnia; Radovan Bogdanovic; Arend Bokenkamp; Dominique Bonneau; Anna Buck; Joel Charrow; Pierre Cochat; Isabel Cordeiro; Georges Deschenes; Semin S Fenkci; Pierre Frange; Stefan Fruend; Helen Fryssira; Encarna Guillen Navarro; Kory Keller; Salman Kirmani; Christine Kobelka; Petra Lamfers; Elena Levtchenko; David B Lewis; Laura Massella; Ross R McLeod; David V Milford; Francois Nobili; Jorge M Saraiva; Nur N Semerci; Lawrence Shoemaker; Natasa Stajic; Anja Stein; Doris Taha; Dorothea Wand; Jonathan Zonana; Thomas Luecke; Cornelius F Boerkoel; ...More
PUBLISHED: 2012, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 7, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
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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; Christy Mayfield; Bertram F Pontz; Cristina Rusu; Jorge M Saraiva; Beate Schmidt; Lawrence Shoemaker; Sabine Sigaudy; Natasa Stajic; Doris Taha; Cornelius F Boerkoel; ...More
PUBLISHED: 2010, SOURCE: EUROPEAN JOURNAL OF PEDIATRICS, VOLUME: 169, ISSUE: 7
INDEXED IN: Scopus WOS CrossRef
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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; 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; ...More
PUBLISHED: 2007, SOURCE: HUMAN MUTATION, VOLUME: 28, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef