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Showing results 11 to 25 of 25

Issue DateTitleAuthor(s)Type
2017Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders박기덕; 박형준Article
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
2017Laryngeal myofascial pain syndrome as a new diagnostic entity of dysphonia정성민; 박기덕; 유정현; 김한수; 배하석; 박형준; 정수연Article
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
2018Partial conduction block as an early nerve conduction finding in neurolymphomatosis박기덕; 박형준Article
2016Recurrent Episodes of Rhabdomyolysis after Seizures in a Patient with Glycogen Storage Disease Type V구혜수; 박기덕; 이지은; 박형준Letter
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
2015The usefulness of proximal radial motor conduction in acute compressive radial neuropathy박기덕; 박형준Article

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