Dept. of Clinical Genetics (임상유전학과)

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Issue DateTitleYonsei Author(s)
2016Diagnosis of Severe Protein C Deficiency Confirmed by Presence of Rare PROC Gene Mutation 남궁란, 박국인, 박민수, 신정은, 은호선, 이경아, 이순민, 이진성, 임명섭
2016Identification of disease comorbidity through hidden molecular mechanisms 고윤희, 이진성
2005Correlation of KIT and platelet-derived growth factor receptor α mutations with gene activation and expression profiles in gastrointestinal stromal tumors강현주, 김주항, 김현기, 김혜령, 김호근, 노성훈, 윤채옥, 이환석, 형우진
2016Variations in plasma and urinary lipids in response to enzyme replacement therapy for Fabry disease patients by nanoflow UPLC-ESI-MS/MS.이진성
2016Mucocutaneous Telangiectasia as a Diagnostic Clue of Hereditary Hemorrhagic Telangiectasia: An Activin Receptor-Like Kinase-1 Mutation in a Korean Patient 곡원호, 김도영, 서지명, 이진성
2016Unravelling the mechanism of action of enzyme replacement therapy in Fabry disease고윤희, 이진성, 홍그루
2001Expression of genes involved in mammalian meiosis during the transition from egg to embryo이진성
2001A Korean girl with alpha-aminoadipic and alpha-ketoadipic aciduria accompanied with elevation of 2-hydroxyglutarate and glutarate.이진성
2014Isolated cerebellar variant of adrenoleukodystrophy with a de novo adenosine triphosphate-binding cassette D1 (ABCD1) gene mutation. 강훈철, 구교연, 남효석, 이영목
2004Proteomic analysis distinguishes basaloid carcinoma as a distinct subtype of nonsmall cell lung carcinoma김세훈, 김현기, 김호근, 신동환, 이용산, 이환석, 장준, 정경영
2008Differential gene expression profiles of metastases in paired primary and metastatic colorectal carcinomas강현주, 김남규, 김호근, 민병소, 유권태, 이한나, 이환석
2008Macrophage migration inhibitory factor may be used as an early diagnostic marker in colorectal carcinomas 강현주, 김남규, 김현석, 김호근, 민병소, 이한나, 이환석
2009MedRefSNP: a database of medically investigated SNPs이진성, 이환석
2010A case of postoperative nasopharyngeal reflux associated with retropharyngeal lymphangioma in newborn infant 구교연, 남궁란, 박국인, 박민수, 윤춘식, 이순민, 이철, 정우희, 최홍식
2010Effect of severe neonatal morbidities on long term outcome in extremely low birthweight infants 구교연, 김정은, 남궁란, 박국인, 박민수, 이순민, 이철
2014Novel mutations of KIT gene in two Korean patients: Variegated shades of phenotypes in tyrosine kinase 1 domain구교연, 오상호, 이진성
2014Germline mutation of Glu70Lys is highly frequent in Korean patients with von Hippel–Lindau (VHL) disease구교연, 구철룡, 이유미, 이진성, 이철호, 황세나
2007Frequent inactivation of SPARC by promoter hypermethylation in colon cancers강현주, 고귀혜, 김남규, 김호근, 이환석
2011Neural Stem Cells: Properties and Therapeutic Potentials for Neonatal Hypoxic-Ischemic Brain Injury구교연, 김미리, 김일선, 박국인, 이일신, 정광수
2011Gene expression changes in patient-matched gastric normal mucosa, adenomas, and carcinomas김현기, 김호근, 이환석
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