Browsing by Keyword : Pedigree

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Showing results 26 to 29 of 29

Pub YearTitleAuthor(s)
2000The first successful prenatal diagnosis on a Korean family with citrullinemia.한시훈
2005Three novel VHL germline mutations in Korean patients with von Hippel-Lindau disease and pheochromocytomas.김대중, 이관우
2014Whole-exome sequencing identifies a novel genotype-phenotype correlation in the entactin domain of the known deafness gene TECTA.정주용
2011Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type.김옥화
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