Browsing by AJOU Author : 김현주

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Showing results 34 to 56 of 56

Publication YearTitleAJOU
Author
2011Identification of a novel recombinant mutation in Korean patients with Gaucher disease using a long-range PCR approach.정선용김현주
2008Identification of differentially expressed genes related to NF1-associated malignant transformation from a patient with neurofibromatosis type 1.정선용한재호김현주
2012Inhibition of Bcl-xL by ABT-737 enhances chemotherapy sensitivity in neurofibromatosis type 1-associated malignant peripheral nerve sheath tumor cells김보영진현석김현주한재호임현이정선용
2010Loss of Y chromosome in the malignant peripheral nerve sheet tumor of a patient with Neurofibromatosis type 1.정선용김현주
2008Molecular diagnosis of fragile X syndrome in a female child정선용김현주
2008Multiple endocrine neoplasia type 1 with multiple leiomyomas linked to a novel mutation in the MEN1 gene.정선용김현주
2013Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1.손영배정선용김현주
2012Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism정선용김현주
2006Mutational spectrum of type I collagen genes in Korean patients with osteogenesis imperfecta.김현주
2007National survey for genetic counseling and demands for Professional genetic counselor정윤석김현주
2004Novel and recurrent mutations of the LDL receptor gene in Korean patients with familial hypercholesterolemia.김현주
2013Ocular Abnormality of Korean Patients with Molecular Genetically Confirmed Gaucher Disease김현주정선용
2010Phenotypic and Cytogenetic Delineation of Six Korean Children with Kabuki Syndrome고정민김현주
2004Pontine atrophy precedes cerebellar degeneration in spinocerebellar ataxia 7: MRI-based volumetric analysis.방오영이필휴김선용김현주허균
2011SCA in Korea and its regional distribution: a multicenter analysis.용석우김현주
2007Spinocerebellar ataxia 7 (SCA7)정선용김현주
2011Strabismus and Poor Stereoacuity Associated with Kabuki Syndrome김현주
1998Structurally abnormal type II collagen in a severe form of Kniest dysplasia caused by an exon 24 skipping mutation.김현주
2005The effect of relaxation therapy on patient's pain following a total knee replacement김현주
2007The spectrum of 5p deletion in Korean 20 patients with Cri du chat syndrome김현주
2006The spectrum of NF1 mutations in Korean patients with neurofibromatosis type 1.정선용박상진김현주
2009Two cases of acute myeloid leukemia with t(16;21)(p11;q22) and TLS/FUS-ERG fusion transcripts.박일중이현우박준성김효철김현주한재호조성란
2006Y chromosome loss and other genomic alterations in hepatocellular carcinoma cell lines analyzed by CGH and CGH array.박상진정선용김현주
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