Associated Papers
Phenotypic and Genotypic Characterization of 171 Patients with Syndromic Inherited Retinal Diseases Highlights the Importance of Genetic Testing for Accurate Clinical Diagnosis.
Kulyamzin S et al.
Genes, 2025
40725402 (PubMed )
Supplement: genes-16-00745-s001.zip › Supplementary_Table_S1.xlsx › Sheet1
CKD in Bardet-Biedl Syndrome: Evidence Supporting Multifactorial Etiology.
Zacchia M et al.
Kidney International Reports, 2025
Metabolomic fingerprinting of renal disease progression in Bardet-Biedl syndrome reveals mitochondrial dysfunction in kidney tubular cells.
Marchese E et al.
Iscience, 2022
Pathogenic variant-based preconception carrier screening in the Israeli Jewish population.
Davidov B et al.
Clinical Genetics, 2022
Mutation profile of BBS genes in patients with Bardet-Biedl syndrome: an Italian study.
Manara E et al.
Italian Journal of Pediatrics, 2019
Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum.
Maria M et al.
Scientific Reports, 2016
27708425 (PubMed )
Supplement: srep34764-s1.pdf
Syndromic and non-syndromic forms of retinitis pigmentosa: a comprehensive Italian clinical and molecular study reveals new mutations.
Pierrottet CO et al.
Genetics and Molecular Research : Gmr, 2014
Select a paper to view details