検索結果 - Rob Elles
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Pseudoachondroplasia and multiple epiphyseal dysplasia: A 7‐year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate a... 著者: Gail C. Jackson, Lauréane Mittaz‐Crettol, Jacqueline Taylor, Geert Mortier, J Spranger, Bernhard Zabel, Martine Le Merrer, Valérie Cormier‐Daire, Christine M Hall, Amaka C Offiah, Michael Wright, Ravi Savarirayan, Gen Nishimura, Simon Ramsden, Rob Elles, Luisa Bonafé, Andrea Superti‐Furga, Sheila Unger, Andreas Zankl, Michael D. Briggs
出版事項 2011Artigo
関連主題
Medicine
Pathology
Achondroplasia
Alternative medicine
Anatomy
Biology
Cartilage oligomeric matrix protein
Computer science
Dysplasia
External quality assessment
Gene
Genetic heterogeneity
Genetic testing
Genetics
Internal medicine
Medical physics
Mutation
Osteoarthritis
Osteochondrodysplasia
Phenotype
Programming language
Quality assurance
Scope (computer science)