Associated Papers
Rare Variant Burden and Behavioral Phenotypes in Children with Autism in Slovakia.
Repiská G et al.
Genes, 2025
40869941 (PubMed )
Supplement: genes-16-00893-s001.zip › File_S1.xlsx › suplement
18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.
Kiel C et al.
Scientific Reports, 2024
39462066 (PubMed )
Supplement: 41598_2024_77014_MOESM2_ESM.xlsx › unsolved_patients
Collaborative effort: managing Bardet-Biedl syndrome in pediatric patients. Case series and a literature review.
Nowak-Ciołek M et al.
Frontiers in Endocrinology, 2024
Spectrum of pathogenic variants and high prevalence of pathogenic BBS7 variants in Russian patients with Bardet-Biedl syndrome.
Orlova M et al.
Frontiers in Genetics, 2024
Meta-analysis of genotype-phenotype associations in Bardet-Biedl syndrome uncovers differences among causative genes.
Niederlova V et al.
Human Mutation, 2019
Exome Sequencing of a Family with Bardet-Biedl Syndrome Identifies the Common Russian Mutation c.1967_1968delTAinsC in BBS7.
Suspitsin EN et al.
Molecular Syndromology, 2015
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