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Showing results 1 to 60 of 67

Publication YearTitleAJOU
Author
200716q-linked autosomal dominant cerebellar ataxia in a Korean family.이필휴정선용김현주
2008A case of Birt-Hogg-Dubé syndrome.정선용김현주김유찬
2010A case of donor-derived granulocytic sarcoma after allogeneic hematopoietic stem cell transplantation정성현한재호정선용강석윤이현우최진혁박준성
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
2014A Korean case of neurofibromatosis type 1 with an exonic splicing enhancer site mutation박상욱손영배정선용
2010A novel homozygous MMP2 mutation in a patient with Torg-Winchester syndrome.정선용김현주김옥화
2015A reply to a commentary on identification of the rare compound heterozygous variants in the NEB gene in a Korean family with intellectual disability, epilepsy and early-childhood-onset generalized muscle weakness.임신영정선용
2011Age-dependent association of the polymorphisms in the mitochondria-shaping gene, OPA1, with blood pressure and hypertension in Korean population.진현석정선용
2013An unusual presentation of diabetic ketoacidosis in familial hajdu-cheney syndrome: a case report.손영배정선용정윤석
2013Association between the SPRY1 gene polymorphism and obesity-related traits and osteoporosis in Korean women.진현석김보영정윤석정선용
2015Association of the I264T variant in the sulfide quinone reductase-like (SQRDL) gene with osteoporosis in Korean postmenopausal women.김정현박은국김범택정선용
2016Caloric restriction improves diabetes-induced cognitive deficits by attenuating neurogranin-associated calcium signaling in high-fat diet-fed mice김정현정선용
2016Caloric restriction of db/db mice reverts hepatic steatosis and body weight with divergent hepatic metabolism김정현정선용
2011Clinical and genetic characteristics of Korean patients with Gaucher disease.정선용김현주
2013Clinical and genetic spectrum of 18 unrelated Korean patients with Sotos syndrome: frequent 5q35 microdeletion and identification of four novel NSD1 mutations.손영배진현석정선용
2008Cochlear implantation and connexin expression in the child with keratitis-ichthyosis-deafness syndrome.정연훈김현주김유찬안재홍최성준정선용박기현
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
2010De novo pericentric inversion of chromosome 9 in congenital anomaly.정선용
2016Effects of Dihydrophaseic Acid 3'-O-beta-d-Glucopyranoside Isolated from Lycii radicis Cortex on Osteoblast Differentiation박은국김정현정선용
2009Effects of the BH3-only protein human Noxa on mitochondrial dynamics.정선용
2004Endophilin B1 is required for the maintenance of mitochondrial morphology.정선용
2016Evaluation of the VE1 Antibody in Thyroid Cytology Using Ex Vivo Papillary Thyroid Carcinoma Specimens김연희임현이이용희한재호이기범이정훈소의영정선용김장희
2015Experimental study of the potential hazards of surgical smoke from powered instruments.김철호정선용한재호김현준
2009Genotypic and phenotypic analyses of Korean patients with syndromic craniosynostosis.유재은정선용박문성김현주윤수한
2009Glucocorticoid induces apoptosis of osteoblast cells through the activation of glycogen synthase kinase 3beta.정선용정윤석
2010Hereditary palmoplantar keratoderma and deafness resulting from genetic mutation of Connexin 26.김현주정선용정연훈김유찬
2012Histone deacetylase inhibitors induce mitochondrial elongation정선용
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
2014Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome.손영배정선용
2014Identification of the rare compound heterozygous variants in the NEB gene in a Korean family with intellectual disability, epilepsy and early-childhood-onset generalized muscle weakness.이기영정선용임신영
2011In Vitro and In Vivo Inhibition of Glucocorticoid-induced Osteoporosis by the Hexane Extract of Poncirus trifoliata.정선용정윤석
2012Inhibition of Bcl-xL by ABT-737 enhances chemotherapy sensitivity in neurofibromatosis type 1-associated malignant peripheral nerve sheath tumor cells김보영진현석김현주한재호임현이정선용
2013Interaction of motor training and intermittent theta burst stimulation in modulating motor cortical plasticity: influence of BDNF Val66Met polymorphism.정선용김병곤
2010Loss of Y chromosome in the malignant peripheral nerve sheet tumor of a patient with Neurofibromatosis type 1.정선용김현주
2016Low Frequency of MKRN3 Mutations in Central Precocious Puberty Among Korean Girls이해상권은별정선용황진순
2007Mitochondrial fission and fusion mediators, hFis1 and OPA1, modulate cellular senescence.김수정정선용조혜성
2008Molecular diagnosis of fragile X syndrome in a female child정선용김현주
2012Molecular genetic analysis of TWIST1 and FGFR3 genes in Korean patients with coronal synostosis: identification of three novel TWIST1 mutations정선용박동하윤수한
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
2013NF1 deficiency causes Bcl-xL upregulation in Schwann cells derived from neurofibromatosis type 1-associated malignant peripheral nerve sheath tumors.손영배진현석한재호김영배임현이정선용
2013Ocular Abnormality of Korean Patients with Molecular Genetically Confirmed Gaucher Disease김현주정선용
2013p21(WAF¹/C¹P¹) deficiency induces mitochondrial dysfunction in HCT116 colon cancer cells.정선용
2012Pathologic diagnosis of recurrent glioblastoma: morphologic, immunohistochemical, and molecular analysis of 20 paired cases김장희김영배한재호김세혁신승수이현우정선용김보영이기범
2011Poncirin promotes osteoblast differentiation but inhibits adipocyte differentiation in mesenchymal stem cells.정선용정윤석
2011Replicated association between genetic variation in the PARK2 gene and blood pressure.진현석정선용
2014Retinal pigment epithelial cells undergoing mitotic catastrophe are vulnerable to autophagy inhibition.정선용
2006Role of Bax and Bak in mitochondrial morphogenesis.정선용
2004Roles of the mammalian mitochondrial fission and fusion mediators Fis1, Drp1, and Opa1 in apoptosis.정선용
2007Spinocerebellar ataxia 7 (SCA7)정선용김현주
2017STRA6 as a possible candidate gene for pathogenesis of osteoporosis from RNAseq analysis of human mesenchymal stem cells최용준정선용원예연정윤석
2014TAGLN expression is upregulated in NF1-associated malignant peripheral nerve sheath tumors by hypomethylation in its promoter and subpromoter regions.임현이한재호손영배정선용
2015Targeted inhibition of mitochondrial Hsp90 induces mitochondrial elongation in Hep3B hepatocellular carcinoma cells undergoing apoptosis by increasing the ROS level.정선용
2009The cell death-inducing activity of the peptide containing Noxa mitochondrial-targeting domain is associated with calcium release.정선용
2014The effect of Lycii Radicis Cortex extract on bone formation in vitro and in vivo.박은국조두연김정현정윤석정선용
2014The PARK2 gene is involved in the maintenance of pancreatic β-cell functions related to insulin production and secretion.진현석강엽정선용
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