Latest Article Alert from Orphanet Journal of Rare Diseases

The following new articles have just been published in Orphanet Journal of Rare Diseases

For articles using Author Version-first publication you will see a provisional PDF corresponding to the accepted manuscript. In these instances, the fully formatted Final Version PDF and full text (HTML) versions will follow in due course.

Research  

EPS8L2 is a new causal gene for childhood onset autosomal recessive progressive hearing loss

Dahmani M, Ammar-Khodja F, Bonnet C, Lefèvre G, Hardelin J, Ibrahim H, Mallek Z, Petit C

Orphanet Journal of Rare Diseases 2015, 10 :96 (19 August 2015)

Abstract | Full Text | PDF | PubMed

Review  

Heterogeneity of primary outcome measures used in clinical trials of treatments for intermediate, posterior, and panuveitis

Denniston A, Holland G, Kidess A, Nussenblatt R, Okada A, Rosenbaum J, Dick A

Orphanet Journal of Rare Diseases 2015, 10 :97 (19 August 2015)

Abstract | Full Text | PDF