Associated Papers
Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome.
Perea-Romero I et al.
Npj Genomic Medicine, 2022
35835773 (PubMed )
Supplement: 41525_2022_311_MOESM2_ESM.xlsx › Table_S4
Functional analysis by minigene assay of putative splicing variants found in Bardet-Biedl syndrome patients.
Álvarez-Satta M et al.
Journal of Cellular and Molecular Medicine, 2017
A Report on Molecular Diagnostic Testing for Inherited Retinal Dystrophies by Targeted Genetic Analyses.
Ramkumar HL et al.
Genetic Testing and Molecular Biomarkers, 2017
Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration.
Pretorius PR et al.
Human Molecular Genetics, 2011
New mutations in BBS genes in small consanguineous families with Bardet-Biedl syndrome: detection of candidate regions by homozygosity mapping.
Pereiro I et al.
Molecular Vision, 2010
Select a paper to view details