Associated Papers
Comprehensive clinical and genetic characterization of Bardet-Biedl Syndrome: insights from the largest Turkish cohort.
Demir Ş et al.
European Journal of Pediatrics, 2025
Variant Spectrum of Renal Ciliopathies in Turkish Cohort and Genotype-Phenotype Association Specifically in Autosomal Dominant Polycystic Kidney Disease.
Ercoskun P et al.
Clinical Genetics, 2025
Structure and activation mechanism of the BBSome membrane protein trafficking complex.
Singh SK et al.
Elife, 2020
Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: Identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes.
Ece Solmaz A et al.
European Journal of Medical Genetics, 2015
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