Associated Papers
Gene prioritisation for enhancing molecular diagnosis in rare skeletal muscle disease cohort.
Lillback V et al.
Journal of Medical Genetics, 2025
Determination of Carrier Frequency of Actionable Pathogenic Variants in Autosomal Recessive Genetic Diseases in the Turkish Cypriot Population.
Gunsel AS et al.
Genes, 2023
Case Report: Whole-Exome Sequencing With MLPA Revealed Variants in Two Genes in a Patient With Combined Manifestations of Spinal Muscular Atrophy and Duchenne Muscular Dystrophy.
Xia Y et al.
Frontiers in Genetics, 2021
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