Dept. of Clinical Genetics

Issue DateTitleAuthor(s)
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 Patient곡원호; 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 carcinoma장준; 정경영; 김세훈; 김현기; 김호근; 신동환; 이용산; 이환석
2008Differential gene expression profiles of metastases in paired primary and metastatic colorectal carcinomas김호근; 민병소; 유권태; 이한나; 이환석; 강현주; 김남규
2008Macrophage migration inhibitory factor may be used as an early diagnostic marker in colorectal carcinomas김남규; 김현석; 김호근; 민병소; 이한나; 이환석; 강현주
2009MedRefSNP: a database of medically investigated SNPs이진성; 이환석
2010A case of postoperative nasopharyngeal reflux associated with retropharyngeal lymphangioma in newborn infant구교연; 남궁란; 박국인; 박민수; 윤춘식; 이순민; 이철; 정우희; 최홍식
2010Effect of severe neonatal morbidities on long term outcome in extremely low birthweight infants박국인; 박민수; 이순민; 이철; 구교연; 김정은; 남궁란
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 cancers이환석; 강현주; 고귀혜; 김남규; 김호근
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
2012Genetic and epileptic features in Rett syndrome이진성; 강훈철; 구교연; 김신혜; 김효정; 김흥동; 이영목; 이준수
2012The first case of familial Mediterranean fever associated with renal amyloidosis in Korea구교연; 박세진; 신재일; 이진성; 임범진; 정현주
2013신생아 저산소성 허혈성 뇌손상에서 신경줄기세포의 치료적 적용박국인; 유하양; 윤석환; 은호선; 이일신; 이철; 정광수; 구교연; 김미리; 김일선; 김정은; 남궁란