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Results 11-14 of 14 (Search time: 0.0 seconds).
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Issue Date
Title
Author(s)
Type
2017
Clinical characterization and genetic analysis of Korean patients with X-linked Charcot-Marie-Tooth disease type 1
박형준
Article
2015
Molecular genetic diagnosis of a bethlem myopathy family with an autosomal-dominant COL6A1 mutation, as evidenced by exome sequencing
박형준
Article
2018
Clinical and pathologic findings of korean patients with ryr1-related congenital myopathy
박형준
Article
2017
Distal myopathy with ADSSL1 mutations in Korean patients
박기덕; 박형준
Article
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-Author
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박기덕
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ADSSL1
1
Bethlem myopathy
1
Central core disease
1
Charcot-Marie-Tooth disease (CMT)
1
CMTX1
1
Collagen
1
Collagen type VI alpha 1 (COL6A1)
1
D4Z4 repeat
1
Diagnosis
1
Distal myopathy
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