Browsing "의료원" by Author 박형준

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Showing results 1 to 14 of 14

Issue DateTitleAuthor(s)Type
2014Clinical and genetic aspects in twelve Korean patients with adrenomyeloneuropathy박형준Article
2018Clinical and pathologic findings of korean patients with ryr1-related congenital myopathy박형준Article
2017Clinical characterization and genetic analysis of Korean patients with X-linked Charcot-Marie-Tooth disease type 1박형준Article
2017Clinical, pathologic, and genetic features of collagen VI-related myopathy in Korea박형준Article
2017Distal myopathy with ADSSL1 mutations in Korean patients박기덕; 박형준Article
2017Early-onset LMNA-associated muscular dystrophy with later involvement of contracture박형준Article
2016First identification of compound heterozygous FKRP mutations in a Korean patient with limb-girdle muscular dystrophy박형준Letter
2015Low D4Z4 copy number and gender difference in Korean patients with facioscapulohumetal muscular dystrophy type 1박형준Article
2015Molecular genetic diagnosis of a bethlem myopathy family with an autosomal-dominant COL6A1 mutation, as evidenced by exome sequencing박형준Article
2018Myasthenia gravis seronegative for acetylcholine receptor antibodies in South Korea: Autoantibody profiles and clinical features박형준Article
2015Targeted next-generation sequencing for the genetic diagnosis of dysferlinopathy박형준Article
2017Targeted population screening of late onset Pompe disease in unspecified myopathy patients for Korean population박형준Article
2014The role of insulin resistance in diabetic neuropathy in Koreans with type 2 diabetes mellitus: A 6-year follow-up study박형준Article
2014The Significance of Clinical and Laboratory Features in the Diagnosis of Glycogen Storage Disease Type V: A Case Report박형준Article