Associated Papers
Profiling of pathogenic variants in Japanese patients with sarcoglycanopathy.
Shimazaki R et al.
Orphanet Journal of Rare Diseases, 2025
Elective genomic screening: results of the implementation of a whole genome sequencing program at a medical check-up unit in Spain.
Palao B et al.
Frontiers in Genetics, 2025
41659036 (PubMed )
Supplement: DataSheet1.pdf
Genetic spectrum of sarcoglycanopathies in a cohort of Russian patients.
Bulakh M et al.
Gene, 2024
Comprehensive functional characterization of SGCB coding variants predicts pathogenicity in limb-girdle muscular dystrophy type R4/2E.
Li C et al.
The Journal of Clinical Investigation, 2023
37317968 (PubMed )
Supplement: jci-133-168156-s148.xlsx › Table_S4__UKBB_
Underlying diseases in sporadic presentation of high creatine kinase levels in girls.
Lee T et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2021
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.
Töpf A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
32528171 (PubMed )
Supplement: 41436_2020_840_MOESM10_ESM.xlsx › .
Select a paper to view details