Browsing "Medical Genetics" by Journal : Annals of clinical and laboratory science

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Showing results 1 to 5 of 5

Pub YearTitleAuthor(s)
2012A Korean patient with Morquio B disease with a novel c.13_14insA mutation in the GLB1 gene손영배
2011Acquisition of a BCR-ABL1 transcript in a patient with disease progression from MDS with fibrosis to AML with myelodysplasia-related changes.김현주, 김효철, 박준성, 이현우, 정성현, 조성란
2013Clinical and cytogenetic features of a patient with partial trisomy 8q and partial monosomy 13q delineated by array comparative genomic hybridization.김성환, 박문성, 손영배, 이장훈
2012Clinical, biochemical, and genetic analysis of two korean patients with trichorhinophalangeal syndrome type I and growth hormone deficiency김옥화, 손영배
2014First identified Korean family with Sotos syndrome caused by a novel intragenic mutation in NSD1.손영배
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