Browsing by AJOU Author : 김현주

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Showing results 2 to 51 of 51

Pub YearTitleAuthor(s)
2007A Case of Down`s Syndrome with Thyrotoxic Crisis김대중, 김현주, 김혜진, 이관우, 정윤석
2005A Case of Familial Medullary Thyroid Carcinoma with a E768D Mutation in RET Proto-Oncogene김대중, 김연경, 김철호, 김현주, 송경은, 안상미, 이관우, 정선용, 정선혜, 정윤석
2007A Case of Familial Multiple Endocrine Neoplasia Type 1 with MEN1 Gene Mutation.김대중, 김현주, 김혜진, 이관우, 정선용, 정윤석, 최용준
2007A Case of Resistance Syndrome to Thyroid Hormone Associated with Mutation (G345D) in the Thyroid Hormone Receptor Beta Gene김대중, 김현주, 김혜진, 이관우, 정선용, 정윤석
2001A case of slipped capital femoral epiphysis developed during growth hormone treatment김현만, 김현주, 이관우, 이수진, 정윤석
1998A Case of Splenic Embolization Followed by Splenectomy with Preservation of Accessory Spleen in Gaucher’s Disease김명욱, 김현주, 소의영, 임현이
2008A Family Case of Complete Androgen Insensitivity Syndrome in Sisters due to a Novel Mutation in the Androgen Receptor Gene김미란, 김현주, 정윤석, 주희재
2009A Novel COMP Gene Mutation in a Korean Kindred with Multiple Epiphyseal Dysplasia고정민, 곽규성, 김현주
2010A novel homozygous MMP2 mutation in a patient with Torg-Winchester syndrome.김옥화, 김현주, 정선용
2009A Review on Professional non-MD Genetic Counselors for Education and Accreditation in Korea김현주
2009A Study on Genetic Counseling Curriculum, Accreditation of the Training Program, and the Certification Process of Genetic Counselors in Korea김현주
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
2010Acute myeloid leukemia with t(16;21)(q24;q22) and eosinophilia: case report and review of the literature.김현주, 박일중, 박준은, 이위교, 조성란
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
1997Alterations of Cell Cycle Regulatory Proteins in Lung Cancer김현주, 박광화, 하만준, 황성철
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
2000Assignment of the kinesin family member 4 genes (KIF4A and KIF4B) to human chromosome bands Xq13.1 and 5q33.1 by in situ hybridization.김완기, 김현주, 이영미, 하만준
1996Buschke-Ollendorff Syndrome(A Case Report)김병석, 김현주, 원예연, 이은소, 주희재, 한경진
2008Challenge of Personalized Medicine in the Genomic Era김현주
2005Childhood X-linked adrenoleukodystrophy: clinical-pathologic overview and MR imaging manifestations at initial evaluation and follow-up.김현주
1999Clinical Analysis of 1,068 Cases of Mid-trimester Genetic Amniocentesis김행수, 김현주, 양정인, 오기석
2011Clinical and genetic characteristics of Korean patients with Gaucher disease.김현주, 정선용
2003Clinical and neuroradiological features of patients with spinocerebellar ataxias from Korean kindreds.김현주, 방오영, 이필휴, 허균
2010Cognitive Profile of Children with Williams Syndrome: Comparison with Children with Prader-Willi Syndrome and Down Syndrome김현주, 임신영
2007Controversial issues in the legal restriction for Prenatal genetic testing in Korea김현주, 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
2007Development of medical genetics training program and certification process for medical geneticist as a specialist in Korea김현주
2001Diagnostic patterns of very-long-chain fatty acids in plasma of patients with X-linked adrenoleukodystrophy.김현주
2004Effects of Pamidronate Treatment on Osteogenesis Imperfecta김대중, 김현주, 이관우, 정윤석
2004Expression and secretion of human glucocerebrosidase mediated by recombinant lentivirus vectors in vitro and in vivo: implications for gene therapy of Gaucher disease.김현주
2007Genetic counseling in Korean health care system김현주
1999Hepatopulmonary syndrome in Gaucher disease with right-to-left shunt: evaluation and measurement using Tc-99m MAA.김현주, 박찬희, 한명호
2010Hereditary palmoplantar keratoderma and deafness resulting from genetic mutation of Connexin 26.김유찬, 김현주, 정선용, 정연훈
2011Identification of a novel recombinant mutation in Korean patients with Gaucher disease using a long-range PCR approach.김현주, 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
2010Loss of Y chromosome in the malignant peripheral nerve sheet tumor of a patient with Neurofibromatosis type 1.김현주, 정선용
2008Molecular diagnosis of fragile X syndrome in a female child김현주, 정선용
2013Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1.김현주, 손영배, 정선용
2012Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism김현주, 정선용
2007National survey for genetic counseling and demands for Professional genetic counselor김현주, 정윤석
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 Disease김현주, 정선용
2010Phenotypic and Cytogenetic Delineation of Six Korean Children with Kabuki Syndrome고정민, 김현주
2004Pontine atrophy precedes cerebellar degeneration in spinocerebellar ataxia 7: MRI-based volumetric analysis.김선용, 김현주, 방오영, 이필휴, 허균
2011SCA in Korea and its regional distribution: a multicenter analysis.김현주, 용석우
2007Spinocerebellar ataxia 7 (SCA7)김현주, 정선용
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
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