Dept. of Clinical Genetics

Issue DateTitleYonsei Author(s)
2010A case of postoperative nasopharyngeal reflux associated with retropharyngeal lymphangioma in newborn infant, et al
2001A Korean girl with alpha-aminoadipic and alpha-ketoadipic aciduria accompanied with elevation of 2-hydroxyglutarate and glutarate., et al
2005Correlation of KIT and platelet-derived growth factor receptor α mutations with gene activation and expression profiles in gastrointestinal stromal tumors, et al
2008Differential gene expression profiles of metastases in paired primary and metastatic colorectal carcinomas, et al
2010Effect of severe neonatal morbidities on long term outcome in extremely low birthweight infants, et al
2001Expression of genes involved in mammalian meiosis during the transition from egg to embryo, et al
2007Frequent inactivation of SPARC by promoter hypermethylation in colon cancers, et al
2011Gene expression changes in patient-matched gastric normal mucosa, adenomas, and carcinomas, et al
2012Genetic and epileptic features in Rett syndrome, et al
2014Germline mutation of Glu70Lys is highly frequent in Korean patients with von Hippel–Lindau (VHL) disease, et al
2014Isolated cerebellar variant of adrenoleukodystrophy with a de novo adenosine triphosphate-binding cassette D1 (ABCD1) gene mutation., et al
2008Macrophage migration inhibitory factor may be used as an early diagnostic marker in colorectal carcinomas, et al
2009MedRefSNP: a database of medically investigated SNPs, et al
2016Mucocutaneous Telangiectasia as a Diagnostic Clue of Hereditary Hemorrhagic Telangiectasia: An Activin Receptor-Like Kinase-1 Mutation in a Korean Patient, et al
2011Neural Stem Cells: Properties and Therapeutic Potentials for Neonatal Hypoxic-Ischemic Brain Injury, et al
2014Novel mutations of KIT gene in two Korean patients: Variegated shades of phenotypes in tyrosine kinase 1 domain, et al
2004Proteomic analysis distinguishes basaloid carcinoma as a distinct subtype of nonsmall cell lung carcinoma, et al
2012The first case of familial Mediterranean fever associated with renal amyloidosis in Korea, et al
2016Unravelling the mechanism of action of enzyme replacement therapy in Fabry disease, et al
2016Variations in plasma and urinary lipids in response to enzyme replacement therapy for Fabry disease patients by nanoflow UPLC-ESI-MS/MS., et al
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