Browsing "Medical Genetics" by Keyword : Alleles
Showing results 3 to 8 of 8
Pub Year | | Title | AJOU Author(s) |
2010 | | Hereditary palmoplantar keratoderma and deafness resulting from genetic mutation of Connexin 26. | 김유찬, 김현주, 정선용, 정연훈 |
2011 | | Identification of a novel recombinant mutation in Korean patients with Gaucher disease using a long-range PCR approach. | 김현주, 정선용 |
2012 | | Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism | 김현주, 정선용 |
2013 | | NF1 deficiency causes Bcl-xL upregulation in Schwann cells derived from neurofibromatosis type 1-associated malignant peripheral nerve sheath tumors. | 김영배, 손영배, 임현이, 정선용, 진현석, 한재호 |
2021 | | Somatic uniparental disomy mitigates the most damaging EFL1 allele combination in Shwachman-Diamond syndrome | 손영배 |
2010 | | The common exon 3 polymorphism of the growth hormone receptor gene and the effect of growth hormone therapy on growth in Korean patients with Turner syndrome. | 고정민 |
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