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Results 1-3 of 3 (Search time: 0.0 seconds).
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Author(s)
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2015
Low D4Z4 copy number and gender difference in Korean patients with facioscapulohumetal muscular dystrophy type 1
박형준
Article
2015
Targeted next-generation sequencing for the genetic diagnosis of dysferlinopathy
박형준
Article
2015
Molecular genetic diagnosis of a bethlem myopathy family with an autosomal-dominant COL6A1 mutation, as evidenced by exome sequencing
박형준
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Bethlem myopathy
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Collagen type VI alpha 1 (COL6A1)
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D4Z4 repeat
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Facioscapulohumeral muscular dyst...
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Gender difference
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Genotype-phenotype relationship
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Hybridization capture
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Mutation
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