Résultats de la recherche

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Dermatologic findings in 16 patients with Cockayne syndrome and cerebro-oculo-facial-skeletal 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
Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes