Associated Papers
Computational and Structural Analysis to Assess the Pathogenicity of Bardet-Biedl Syndrome Related Missense Variants Identified in Bardet-Biedl Syndrome 10 Gene (BBS10).
Gupta N et al.
Acs Omega, 2022
36312387 (PubMed )
Supplement: ao2c04522_si_001.pdf
Compound Heterozygous Mutations in the BBS-1 Gene and its Clinical Presentation: A Case Report.
Michelen-Gómez E et al.
Puerto Rico Health Sciences Journal, 2021
A Genotype-Phenotype Analysis of the Bardet-Biedl Syndrome in Puerto Rico.
Guardiola GA et al.
Clinical Ophthalmology (auckland, N.z.), 2021
Cardiac arrhythmia and neuroexcitability gene variants in resected brain tissue from patients with sudden unexpected death in epilepsy (SUDEP).
Friedman D et al.
Npj Genomic Medicine, 2018
29619247 (PubMed )
Supplement: 41525_2018_48_MOESM2_ESM.xlsx › Sheet1
Select a paper to view details