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김, 현주 Not currently indexed
[School of Medicine / Graduate School of Medicine] - [Medical Genetics]

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Showing results 1 to 20 of 54

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Pub YearTitleAuthor(s)
2013Ocular Abnormality of Korean Patients with Molecular Genetically Confirmed Gaucher Disease김현주, 정선용
2013Array-based comparative genomic hybridization in 190 Korean patients with developmental delay and/or intellectual disability: a single tertiary care university center study.김현주, 손영배, 임신영
2013Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1.김현주, 손영배, 정선용
2012Correlation Between Unidentified Bright Objects on Brain Magnetic Resonance Imaging (MRI) and Cerebral Glucose Metabolism in Patients with Neurofibromatosis Type 1김현주, 손영배, 안영실, 이수진, 정선용, 최진욱
2012Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism김현주, 정선용
2012Inhibition of Bcl-xL by ABT-737 enhances chemotherapy sensitivity in neurofibromatosis type 1-associated malignant peripheral nerve sheath tumor cells김보영, 김현주, 임현이, 정선용, 진현석, 한재호
2011Strabismus and Poor Stereoacuity Associated with Kabuki Syndrome김현주
2011SCA in Korea and its regional distribution: a multicenter analysis.김현주, 용석우
2011Acute promyelocytic leukemia with complex translocation t(5;17;15)(q35;q21;q22): case report and review of the literature.김현주, 박일중, 박준은, 정현주, 조성란
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
2011Identification of a novel recombinant mutation in Korean patients with Gaucher disease using a long-range PCR approach.김현주, 정선용
2011Clinical and genetic characteristics of Korean patients with Gaucher disease.김현주, 정선용
2010Cognitive Profile of Children with Williams Syndrome: Comparison with Children with Prader-Willi Syndrome and Down Syndrome김현주, 임신영
2010Phenotypic and Cytogenetic Delineation of Six Korean Children with Kabuki Syndrome고정민, 김현주
2010A novel homozygous MMP2 mutation in a patient with Torg-Winchester syndrome.김옥화, 김현주, 정선용
2010Loss of Y chromosome in the malignant peripheral nerve sheet tumor of a patient with Neurofibromatosis type 1.김현주, 정선용
2010Acute myeloid leukemia with t(16;21)(q24;q22) and eosinophilia: case report and review of the literature.김현주, 박일중, 박준은, 이위교, 조성란
2010Hereditary palmoplantar keratoderma and deafness resulting from genetic mutation of Connexin 26.김유찬, 김현주, 정선용, 정연훈
2009A Novel COMP Gene Mutation in a Korean Kindred with Multiple Epiphyseal Dysplasia고정민, 곽규성, 김현주
2009A Study on Genetic Counseling Curriculum, Accreditation of the Training Program, and the Certification Process of Genetic Counselors in Korea김현주
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