Résultats de la recherche

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Retinal dystrophy in Bardet-Biedl syndrome and related syndromic ciliopathies
Value of MRI Olfactory Bulb evaluation in the assessment of olfactory dysfunction in Bardet Biedl syndrome
Olfaction evaluation and correlation with brain atrophy in Bardet-Biedl syndrome
Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort
Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18)
Mesoaxial polydactyly is a major feature in Bardet-Biedl syndrome patients with LZTFL1 (BBS17) mutations
BBS-induced ciliary defect enhances adipogenesis, causing paradoxical higher-insulin sensitivity, glucose usage, and decreased inflammatory response
Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes

Islandora displays