Browsing by AJOU Author : 김현주

All A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
or enter first few letters:
  • Sort by:
  • In order:
  • Results/Page
  • Authors/Record:

Showing results 1 to 56 of 56

Publication YearTitleAJOU
Author
200716q-linked autosomal dominant cerebellar ataxia in a Korean family.이필휴정선용김현주
2008A case of Birt-Hogg-Dubé syndrome.정선용김현주김유찬
2007A Case of Down`s Syndrome with Thyrotoxic Crisis김현주김혜진김대중이관우정윤석
2007A Case of Familial Multiple Endocrine Neoplasia Type 1 with MEN1 Gene Mutation.김혜진김대중이관우정선용김현주정윤석
2007A Case of Resistance Syndrome to Thyroid Hormone Associated with Mutation (G345D) in the Thyroid Hormone Receptor Beta Gene김혜진정윤석이관우정선용김현주김대중
2008A Family Case of Complete Androgen Insensitivity Syndrome in Sisters due to a Novel Mutation in the Androgen Receptor Gene김현주김미란주희재정윤석
2009A Novel COMP Gene Mutation in a Korean Kindred with Multiple Epiphyseal Dysplasia고정민곽규성김현주
2010A novel homozygous MMP2 mutation in a patient with Torg-Winchester syndrome.정선용김현주김옥화
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.이현우정성현박준성김효철김현주조성란
2010Acute myeloid leukemia with t(16;21)(q24;q22) and eosinophilia: case report and review of the literature.박일중박준은김현주이위교조성란
2011Acute promyelocytic leukemia with complex translocation t(5조성란김현주박일중정현주박준은
2013Array-based comparative genomic hybridization in 190 Korean patients with developmental delay and/or intellectual disability: a single tertiary care university center study.김현주임신영손영배
2000Assignment of the kinesin family member 4 genes (KIF4A and KIF4B) to human chromosome bands Xq13.1 and 5q33.1 by in situ hybridization.하만준이영미김현주김완기
2001Atypical Urodynamic Findings in Cauda Equina Injury김현주
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
2011Clinical and genetic characteristics of Korean patients with Gaucher disease.정선용김현주
2003Clinical and neuroradiological features of patients with spinocerebellar ataxias from Korean kindreds.방오영허균이필휴김현주
2008Cochlear implantation and connexin expression in the child with keratitis-ichthyosis-deafness syndrome.정연훈김현주김유찬안재홍최성준정선용박기현
2010Cognitive Profile of Children with Williams Syndrome: Comparison with Children with Prader-Willi Syndrome and Down Syndrome임신영김현주
2008Comparison of multiplex reverse transcription polymerase chain reaction and conventional cytogenetics as a diagnostic strategy for acute leukemia.박준성정성현이현우강석윤최진혁김효철박준은임영애김현주조성란
2007Controversial issues in the legal restriction for Prenatal genetic testing in Korea정선용김현주
2012Correlation Between Unidentified Bright Objects on Brain Magnetic Resonance Imaging (MRI) and Cerebral Glucose Metabolism in Patients with Neurofibromatosis Type 1손영배안영실이수진최진욱정선용김현주
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
2004Expression and secretion of human glucocerebrosidase mediated by recombinant lentivirus vectors in vitro and in vivo: implications for gene therapy of Gaucher disease.김현주
2008Fragile X syndrome in Korea: a case series and a review of the literature.임신영김현주
2007Genetic counseling in Korean health care system김현주
2009Genotypic and phenotypic analyses of Korean patients with syndromic craniosynostosis.유재은정선용박문성김현주윤수한
1999Hepatopulmonary syndrome in Gaucher disease with right-to-left shunt: evaluation and measurement using Tc-99m MAA.박찬희한명호김현주
2010Hereditary palmoplantar keratoderma and deafness resulting from genetic mutation of Connexin 26.김현주정선용정연훈김유찬
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
1

Browse