Genetic findings in Czech patients with limb girdle muscular dystrophy
Article in Clinical Genetics (August 2023)
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A founder COL4A4 pathogenic variant resulting in autosomal recessive Alport syndrome accounts for most genetic kidney failure in Romani people
Article in Frontiers in Medicine (February 2023)
Molecular and genetic features of calpainopathy
Article in Genes and Cells (September 2022)