Résultats de la recherche

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(1 - 11 of 11)
OPA3--related autosomal dominant optic atrophy and cataract with ataxia and areflexia
Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort
Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome
Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness
Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes

Islandora displays