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

Islandora displays