Browsing "Pediatrics & Adolescent Medicine" by Keyword : DNA Mutational Analysis

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Showing results 1 to 7 of 7

Pub YearTitleAuthor(s)
2000Connexin26 mutations associated with nonsyndromic hearing loss.박기현, 박홍준, 전영명, 한시훈
1995Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1.한시훈
2002Molecular analysis of PCCB gene in Korean patients with propionic acidemia.김순남
2016Multiple Endocrine Neoplasia Type 1 Presenting as Hypoglycemia due to Insulinoma이해상, 황진순
2000Mutation analysis of Korean patients with citrullinemia.한시훈
2012Response to growth hormone therapy in children with Noonan syndrome: correlation with or without PTPN11 gene mutation황진순
2000The first successful prenatal diagnosis on a Korean family with citrullinemia.한시훈
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