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  1. Article

    Open Access

    Global carrier frequency and predicted genetic prevalence of patients with pathogenic sequence variants in autosomal recessive genetic neuromuscular diseases

    Genetic neuromuscular diseases are clinically and genetically heterogeneous genetic disorders that primarily affect the peripheral nerves, muscles, and neuromuscular junctions. This study aimed to identify pat...

    Won-Jun Choi, Soo-Hyun Kim, Sung Rok Lee, Seung-Hun Oh, Seung Woo Kim in Scientific Reports (2024)

  2. Article

    Open Access

    Interplay between 3′-UTR polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene and the risk of ischemic stroke

    Stroke incidence is a multifactorial disease and especially hyperhomocysteinemia is associated with a higher risk of stroke. Previous studies have reported a folate metabolism disorder associated with the MTHFR g...

    Jung Oh Kim, Han Sung Park, Chang Soo Ryu, Jung-Won Shin, **kwon Kim in Scientific Reports (2017)