Associated Papers
Characterizing Homozygous Variants in Bardet-Biedl Syndrome-Associated Genes Within Iranian Families: Unveiling a Founder Variant in BBS2, c.471G>A.
Feizabadi MH et al.
Biochemical Genetics, 2025
A Description of the Yield of Genetic Reinvestigation in Patients with Inherited Retinal Dystrophies and Previous Inconclusive Genetic Testing.
Areblom M et al.
Genes, 2023
WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects.
Karam A et al.
International Journal of Molecular Sciences, 2023
Genotype and Phenotype in an unusual form of Laurence-Moon-Bardet-Biedl syndrome.
Kamme C et al.
Acta Ophthalmologica, 2017
Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing.
Weisschuh N et al.
Plos One, 2016
Select a paper to view details