Browsing by Yonsei Author : Lee, Jin Sung

Name:
이진성 [Lee, Jin Sung]
Department :
College of Medicine - Dept. of Pediatrics
Y-HRN :
(Yonsei Health Research Network)
Scopus ID :
(56362839400)

Results 1-39 of 39.

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Issue DateTitleYonsei Author(s)Type
2018A Novel Heterozygous ANO3 Mutation with Basal Ganglia Dysfunction in a Patient with Adult-Onset Isolated Segmental Dystonia. 손영호, 유한수, 이진성, 이필휴, 이현주, 정석종article
2018Oral Pyridostigmine-responsive Visceral Myopathy With ACTG2 Mutations: A Case Series김승, 김혜민, 박소원, 오정탁, 이진성, 이현주article
2017Alpers-Huttenlocher Syndrome First Presented with Hepatic Failure: Can Liver Transplantation Be Considered as Treatment Option? 강훈철, 고홍, 김승, 박소원, 박영년, 이진성article
2017SPTBN2와 연관된 spinocerebellar ataxia type 5를진단받은 환자 강훈철, 고아라, 이진성, 이현주article
2017Prevalence of Rare Genetic Variations and Their Implications in NGS-data Interpretation 이진성article
2017Clinical application of next-generation sequencing for the diagnosis of segmental neurofibromatosis이진성, 이현주article
2017Congenital Orbital Fibrosis: Molecular Genetic Analysis by Whole-Exome and Mitochondrial Genome Sequencing.고재상, 윤진숙, 이진성, 이현주article
2016Variations in plasma and urinary lipids in response to enzyme replacement therapy for Fabry disease patients by nanoflow UPLC-ESI-MS/MS.이진성article
2016Diagnosis of Severe Protein C Deficiency Confirmed by Presence of Rare PROC Gene Mutation 남궁란, 박국인, 박민수, 신정은, 은호선, 이경아, 이순민, 이진성, 임명섭article
2016Identification of disease comorbidity through hidden molecular mechanisms 고윤희, 이진성article
2016Mucocutaneous Telangiectasia as a Diagnostic Clue of Hereditary Hemorrhagic Telangiectasia: An Activin Receptor-Like Kinase-1 Mutation in a Korean Patient 곡원호, 김도영, 서지명, 이진성article
2016Unravelling the mechanism of action of enzyme replacement therapy in Fabry disease고윤희, 이진성, 홍그루article
2015Complete form of pachydermoperiostosis with SLCO2A1 gene mutation in a Korean family김도영, 김희주, 이민걸, 이진성article
2015Lipidomic profiling of plasma and urine from patients with Gaucher disease during enzyme replacement therapy by nanoflow liquid chromatography-tandem mass spectrometry이진성article
2015천식 치료 중 우연히 발견된 Birt-Hogg-Dube 증후군 1예 김동현, 김영주, 김준호, 박경희, 박중원, 박혜정, 이재현, 이진성, 최종락article
2014Novel mutations of KIT gene in two Korean patients: Variegated shades of phenotypes in tyrosine kinase 1 domain구교연, 오상호, 이진성article
2014A modified Atkin's diet for an infant with pyruvate dehydrogenase complex deficiency confirmed by PDHA1 gene mutation강훈철, 고윤희, 김정아, 김흥동, 유리타미영, 이진성article
2014Germline mutation of Glu70Lys is highly frequent in Korean patients with von Hippel–Lindau (VHL) disease구교연, 구철룡, 이유미, 이진성, 이철호, 황세나article
2012Genetic and epileptic features in Rett syndrome 강훈철, 구교연, 김신혜, 김효정, 김흥동, 이영목, 이준수, 이진성article
2012The first case of familial Mediterranean fever associated with renal amyloidosis in Korea 구교연, 박세진, 신재일, 이진성, 임범진, 정현주article
2011Acute treatment of hyperammonemia by continuous renal replacement therapy in a newborn patient with ornithine transcarbamylase deficiency 김지홍, 박국인, 신재일, 은호선, 이진성article
2011X-linked myotubular myopathy in a family with two infant siblings: a case with MTM1 mutation 김세훈, 남궁란, 박국인, 박민수, 이진성, 이철article
2010신생아기에 진단된 미토콘드리아 질환 3례 김세훈, 남궁란, 박국인, 이순민, 이영목, 이진성article
2010Survival analysis of spinal muscular atrophy type I. 남궁란, 박국인, 박민수, 박현빈, 이순민, 이진성, 이철article
2010Behavioral improvement after transplantation of neural precursors derived from embryonic stem cells into the globally ischemic brain of adolescent rats강훈철, 김대성, 김동욱, 김지영, 김한수, 김흥동, 이진성article
2009Clinical Characteristics of Renal Cell Carcinoma in Korean Patients with von Hippel-Lindau Disease Compared to Sporadic Bilateral or Multifocal Renal Cell Carcinoma 김원태, 이진성, 주희정, 최영득, 함원식article
2009MedRefSNP: a database of medically investigated SNPs이진성, 이환석article
2009De novo interstitial direct duplication 8 (p21.3p23.1) with Pierre Robin sequence 남궁란, 박국인, 박민수, 이경아, 이순민, 이진성, 이철, 최종락article
2008한국인 von Hippel-Lindau 병 환자에서 신세포암의 임상적 특성 김원태, 이진성, 최영득, 함원식article
2008Newly observed thalamic involvement and mutations of the HEXA gene in a Korean patient with juvenile GM2 gangliosidosis.김진아, 김흥동, 이순민, 이승구, 이영목, 이준수, 이진성article
2008Temporal bone CT findings in Cornelia de Lange syndrome. 김응엽, 김진아, 김희남, 이원상, 이진성article
2004중증근무력증 환자의 CTLA-4 유전자 다형성 김원주, 김현숙, 이경열, 이진성, 최영철article
2004신생아 지속성 폐동맥 고혈압증을 동반한 태아 알코올 증후군 1례 남궁란, 박국인, 박민수, 이진성, 이철article
2003신생아기에 진단된 미토콘드리아 호흡 사슬 결함 1례 권해식, 남궁란, 박민수, 이동우, 이영목, 이진성, 이철, 최경민article
2002선천성 근긴장성 이영양증 1례 김태승, 남궁란, 박국인, 이영목, 이진성, 이철, 이택진article
2002Identification of MARCKS, FLJ11383 and TAF1B as putative novel target genes in colorectal carcinomas with mocrosatellite instability 김주항, 김호근, 이진성article
2002In vivo differentiation of mouse embryonic stem cells into hepatocytes이진성article
2001Expression of genes involved in mammalian meiosis during the transition from egg to embryo이진성article
2001A Korean girl with alpha-aminoadipic and alpha-ketoadipic aciduria accompanied with elevation of 2-hydroxyglutarate and glutarate.이진성article
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