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Naslov Schimke immunoosseous dysplasia: Suggestions of genetic diversity (Article)
Autori Clewing Marietta J Fryssira Helen Goodman David Smithson Sarah F Sloan Emily A Lou Shu Huang Yan Chow Kunho Luecke Thomas Alpay Harika Andre Jean-Luc Asakura Yumi Biebuyck-Gouge Nathalie Bogdanovic Radovan M Bonneau Dominique Cancrini Caterina Cochat Pierre Cockfield Sandra Collard Laure Cordeiro Isabel Cormier-Daire Valerie Cransberg Karlien Cutka Karel Deschenes Georges Ehrich Jochen HH Frund S Georgaki Helen Guillen-Navarro Encarna Hinkelmann Barbara Kanariou Maria Kasap Belde Kilic-Sebnem Sara Lama Guiliana Lamfers Petra Loirat Chantal Majore Silvia Milford David V Morin Denis Ozdemir Nihal Pontz Bertram F Proesmans Willem Psoni Stavroula Reichenbach Herbert Reif Silke Rusu Cristina Saraiva Jorge M Sakallioglu Onur Schmidt Beate Shoemaker Lawrence Sigaudy Sabine Smith Graham C Sotsiou Flora Stajic Natasa Stein Anja Stray-Pedersen Asbjorg Taha Doris Taque Sophie Tizard Jane Tsimaratos Michel Wong Newton ACS Boerkoel Cornelius F 
Info HUMAN MUTATION, (2007), vol. 28 br. 3 , Suppl. , str. 273 -283
Ispravka Web of Science   Članak   Elečas   Rang časopisa   Citati: Web of Science   Scopus  
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Naslov Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia (Article)
Autori Boerkoel Cornelius F Takashima H John J Yan J Stankiewicz P Rosenbarker L Andre Jean-Luc Bogdanovic Radovan M Burguet A Cockfield Sandra Cordeiro Isabel Frund S Illies F Joseph MW Kaitila I Lama Guiliana Loirat Chantal McLeod DR Milford David V Petty EM Rodrigo F Saraiva Jorge M Schmidt Beate Smith Graham C Spranger J Stein Anja Thiele H Tizard Jane Weksberg R Lupski JR Stockton DW 
Info NATURE GENETICS, (2002), vol. 30 br. 2, str. 215-220
Ispravka Web of Science   Članak   Elečas   Rang časopisa   Citati: Web of Science   Scopus  
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Naslov Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature (Review)
Autori Boerkoel Cornelius F O'Neill S Andre Jean-Luc Benke PJ Bogdanovic Radovan M Bulla M Burguet A Cockfield Sandra Cordeiro Isabel Ehrich Jochen HH Frund S Geary DF Ieshima A Illies F Joseph MW Kaitila I Lama Guiliana Leheup B Ludman MD McLeod DR Medeira A Milford David V Ormala T Rener-Primec Z Santava A Santos HG Schmidt Beate Smith Graham C Spranger J Zupancic N Weksberg R 
Info EUROPEAN JOURNAL OF PEDIATRICS, (2000), vol. 159 br. 1-2, str. 1-7
Ispravka Web of Science   Članak   Elečas   Rang časopisa   Citati: Web of Science   Scopus  
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