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1.
Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia.
Eur J Hum Genet
; 15(2): 150-4, 2007 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-17133256
2.
COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia.
Eur J Hum Genet
; 13(5): 547-55, 2005 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-15756302
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