Zankl, Andreas <br/><br/>
Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia.  [electronic resource] 

 -  European journal of human genetics : EJHG  Feb 2007 
 - 150-4 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1018-4813 
<br/><br/><label>Standard No.: </label>10.1038/sj.ejhg.5201744  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Cartilage Oligomeric Matrix Protein<br/>Child, Preschool<br/>DNA Mutational Analysis<br/>Extracellular Matrix Proteins--genetics<br/>Female<br/>Genetic Testing<br/>Glycoproteins--genetics<br/>Humans<br/>Male<br/>Matrilin Proteins<br/>Middle Aged<br/>Mutation<br/>Osteochondrodysplasias--diagnosis<br/>Radiography