Browsing by Yonsei Author : Lee, Jin Sung

Name:
Lee, Jin Sung [이진성] http://orcid.org/0000-0002-1262-8597
Department :
College of Medicine (의과대학) - Dept. of Pediatrics (소아청소년과학교실)
Y-HRN :
(Yonsei Health Research Network)
Scopus ID :
(56362839400)

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Issue DateTitleJournal Title
2019Systematic Approach for Drug Repositioning of Anti-Epileptic Drugs DIAGNOSTICS
2019Oral Pyridostigmine-responsive Visceral Myopathy With ACTG2 Mutations: A Case SeriesJOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION
2019Implementation of a Targeted Next-Generation Sequencing Panel for Constitutional Newborn Screening in High-Risk Neonates YONSEI MEDICAL JOURNAL
2019A novel compound heterozygous mutation of the AIRE gene in a patient with autoimmune polyendocrine syndrome type 1 Journal of Korean Society of Pediatric Endocrinology (대한소아내분비학회지)
2019Genitopatellar Syndrome Secondary to De Novo KAT6B Mutation: The First Genetically Confirmed Case in South Korea YONSEI MEDICAL JOURNAL
2019Fructose-1,6-bisphosphatase deficiency presented with complex febrile convulsion Neuro Endocrinology Letters
2019The First Case Series of Cryopyrin-Associated Periodic Syndrome in Korea Allergy Asthma & Immunology Research
2018A Novel Heterozygous ANO3 Mutation with Basal Ganglia Dysfunction in a Patient with Adult-Onset Isolated Segmental Dystonia. JOURNAL OF CLINICAL NEUROLOGY
2017Congenital Orbital Fibrosis: Molecular Genetic Analysis by Whole-Exome and Mitochondrial Genome Sequencing.YONSEI MEDICAL JOURNAL
2017Prevalence of Rare Genetic Variations and Their Implications in NGS-data Interpretation SCIENTIFIC REPORTS
2017Alpers-Huttenlocher Syndrome First Presented with Hepatic Failure: Can Liver Transplantation Be Considered as Treatment Option? PEDIATRIC GASTROENTEROLOGY HEPATOLOGY & NUTRITION
2017Clinical application of next-generation sequencing for the diagnosis of segmental neurofibromatosisJOURNAL OF DERMATOLOGICAL SCIENCE
2017SPTBN2와 연관된 spinocerebellar ataxia type 5를진단받은 환자 Journal of the Korean Child Neurology Society (대한소아신경학회지)
2016Diagnosis of Severe Protein C Deficiency Confirmed by Presence of Rare PROC Gene Mutation Neonatal Medicine
2016Identification of disease comorbidity through hidden molecular mechanisms SCIENTIFIC REPORTS
2016Mucocutaneous Telangiectasia as a Diagnostic Clue of Hereditary Hemorrhagic Telangiectasia: An Activin Receptor-Like Kinase-1 Mutation in a Korean Patient ANNALS OF DERMATOLOGY
2016Variations in plasma and urinary lipids in response to enzyme replacement therapy for Fabry disease patients by nanoflow UPLC-ESI-MS/MS.ANALYTICAL AND BIOANALYTICAL CHEMISTRY
2016Unravelling the mechanism of action of enzyme replacement therapy in Fabry diseaseJOURNAL OF HUMAN GENETICS
2015Lipidomic profiling of plasma and urine from patients with Gaucher disease during enzyme replacement therapy by nanoflow liquid chromatography-tandem mass spectrometryJOURNAL OF CHROMATOGRAPHY A
2015Complete form of pachydermoperiostosis with SLCO2A1 gene mutation in a Korean familyJOURNAL OF DERMATOLOGY
2015천식 치료 중 우연히 발견된 Birt-Hogg-Dube 증후군 1예 ALLERGY ASTHMA & RESPIRATORY DISEASE
2014Germline mutation of Glu70Lys is highly frequent in Korean patients with von Hippel–Lindau (VHL) diseaseJOURNAL OF HUMAN GENETICS
2014Novel mutations of KIT gene in two Korean patients: Variegated shades of phenotypes in tyrosine kinase 1 domainJOURNAL OF DERMATOLOGICAL SCIENCE
2014A modified Atkin's diet for an infant with pyruvate dehydrogenase complex deficiency confirmed by PDHA1 gene mutationNEUROLOGY ASIA
2012Genetic and epileptic features in Rett syndrome YONSEI MEDICAL JOURNAL
2012The first case of familial Mediterranean fever associated with renal amyloidosis in Korea YONSEI MEDICAL JOURNAL
2011X-linked myotubular myopathy in a family with two infant siblings: a case with MTM1 mutation YONSEI MEDICAL JOURNAL
2011Acute treatment of hyperammonemia by continuous renal replacement therapy in a newborn patient with ornithine transcarbamylase deficiency Korean Journal of Pediatrics
2010Behavioral improvement after transplantation of neural precursors derived from embryonic stem cells into the globally ischemic brain of adolescent ratsBRAIN & DEVELOPMENT
2010신생아기에 진단된 미토콘드리아 질환 3례 Journal of the Korean Society of Neonatology (대한신생아학회지)
2010Survival analysis of spinal muscular atrophy type I. Korean Journal of Pediatrics
2009De novo interstitial direct duplication 8 (p21.3p23.1) with Pierre Robin sequence Korean Journal of Pediatrics
2009Clinical Characteristics of Renal Cell Carcinoma in Korean Patients with von Hippel-Lindau Disease Compared to Sporadic Bilateral or Multifocal Renal Cell Carcinoma JOURNAL OF KOREAN MEDICAL SCIENCE
2009MedRefSNP: a database of medically investigated SNPsHUMAN MUTATION
2008한국인 von Hippel-Lindau 병 환자에서 신세포암의 임상적 특성 KOREAN JOURNAL OF UROLOGY
2008Temporal bone CT findings in Cornelia de Lange syndrome. AMERICAN JOURNAL OF NEURORADIOLOGY
2008Newly observed thalamic involvement and mutations of the HEXA gene in a Korean patient with juvenile GM2 gangliosidosis.METABOLIC BRAIN DISEASE
2004신생아 지속성 폐동맥 고혈압증을 동반한 태아 알코올 증후군 1례 Korean Journal of Pediatrics
2004중증근무력증 환자의 CTLA-4 유전자 다형성 Journal of the Korean Neurological Association
2003신생아기에 진단된 미토콘드리아 호흡 사슬 결함 1례 Korean Journal of Perinatology (대한주산의학회잡지)
2002선천성 근긴장성 이영양증 1례 Journal of the Korean Society of Neonatology (대한신생아학회지)
2002In vivo differentiation of mouse embryonic stem cells into hepatocytesCELL TRANSPLANTATION
2002Identification of MARCKS, FLJ11383 and TAF1B as putative novel target genes in colorectal carcinomas with mocrosatellite instability ONCOGENE
2001Expression of genes involved in mammalian meiosis during the transition from egg to embryoMOLECULAR REPRODUCTION AND DEVELOPMENT
2001A Korean girl with alpha-aminoadipic and alpha-ketoadipic aciduria accompanied with elevation of 2-hydroxyglutarate and glutarate.JOURNAL OF INHERITED METABOLIC DISEASE
2000Characterization of a novel DNA polymorphism in the human CYP21 gene and application for DNA diagnosis of congenital adrenal hyperplasiaClinical Endocrinology
1999Prevalence of congenital malformations and genetic diseases in KoreaJournal of Human Genetics
1999Pyloric atresia with junctional epidermolysis bullosa(PA-JEB) syndrome: absence of detectable b4 integrin and reduced expression of epidermal linear IgA dermatosis antigenInternational Journal of Dermatology
1998Effect of topical Na-hyaluronan on hemidesmosome formation in n-heptanol-induced corneal injury.OPHTHALMIC RESEARCH
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