Showing results 1 to 3 of 3
Title | Author(s) | Issue Date | |
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Infantile Systemic Hyalinosis (ISH) - in vitro study of the C218R mutant on the role of the ER degradation system as the target for individualized therapeutic intervention Proceeding/Conference:33rd Annual David W. Smith Workshop | 2012 | ||
Infantile systemic hyalinosis presenting as multiple join pain Proceeding/Conference:ICHG-ASHG 2011 Joint Meeting | 2011 | ||
Infantile systemic hyalinosis presenting as multiple joint pain in a Pakistani infant girl Proceeding/Conference:Hong Kong Journal of Paediatrics (New series) | 2011 |