Browsing "Pediatrics & Adolescent Medicine" by Keyword : Pedigree

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Showing results 1 to 7 of 7

Pub YearTitleAJOU Author(s)
2000Connexin26 mutations associated with nonsyndromic hearing loss.박기현, 박홍준, 전영명, 한시훈
2000Hepatocellular carcinoma despite long-term survival in chronic tyrosinaemia I.한시훈
2020Identification of rare missense mutations in NOTCH2 and HERC2 associated with familial central precocious puberty via whole-exome sequencing금창대, 노정기, 이해상, 정선용, 정재연, 황진순
2017Makorin ring finger 3 gene analysis in Koreans with familial precocious puberty이해상
2016Multiple Endocrine Neoplasia Type 1 Presenting as Hypoglycemia due to Insulinoma이해상, 황진순
2010Non-type I cystinuria associated with mental retardation and ataxia in a Korean boy with a new missence mutation(G173R) in the SLC7A9 gene.김성환, 황진순
2000The first successful prenatal diagnosis on a Korean family with citrullinemia.한시훈
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