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Results 1-10 of 14 (Search time: 0.0 seconds).
Item hits:
Issue Date
Title
Author(s)
Type
2015
Low D4Z4 copy number and gender difference in Korean patients with facioscapulohumetal muscular dystrophy type 1
박형준
Article
2014
The role of insulin resistance in diabetic neuropathy in Koreans with type 2 diabetes mellitus: A 6-year follow-up study
박형준
Article
2017
Early-onset LMNA-associated muscular dystrophy with later involvement of contracture
박형준
Article
2016
First identification of compound heterozygous FKRP mutations in a Korean patient with limb-girdle muscular dystrophy
박형준
Letter
2014
Clinical and genetic aspects in twelve Korean patients with adrenomyeloneuropathy
박형준
Article
2017
Clinical, pathologic, and genetic features of collagen VI-related myopathy in Korea
박형준
Article
2017
Targeted population screening of late onset Pompe disease in unspecified myopathy patients for Korean population
박형준
Article
2018
Myasthenia gravis seronegative for acetylcholine receptor antibodies in South Korea: Autoantibody profiles and clinical features
박형준
Article
2014
The Significance of Clinical and Laboratory Features in the Diagnosis of Glycogen Storage Disease Type V: A Case Report
박형준
Article
2015
Targeted next-generation sequencing for the genetic diagnosis of dysferlinopathy
박형준
Article
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ADSSL1
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Bethlem myopathy
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Central core disease
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Charcot-Marie-Tooth disease (CMT)
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CMTX1
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Collagen
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Collagen type VI alpha 1 (COL6A1)
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D4Z4 repeat
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Distal myopathy
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