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An unusual case of monozygotic epigastric heteropagus twinning. Pediatr Surgery 31:1457-1460, 1996
Prevalent and novel mutations of the tyrosinase(TYR) gene in Korean patients with tyrosinase-deficient oculocutaneous albinism(OCA1). Mol Cell 7:187-191, 1997
DNA-based prenatal diagnosis of a Korean family with tyrosinase-deficient oculocutaneous albinism(OCA1) Jap J Hum Genet 42:499-505, 1997
Genetic investigation of the porphobilinogen deaminase gene in Swedish acute intermittent porphyria. Hum Genet 100:63-66, 1997
Homozygous deletion of the CDKN2 gene and loss of heterozygosity of 9p in primary hepatocellular carcinoma. Cancer Letters 122:201-207, 1998
Effect of topical Na-hyaluronan on hemidesmosome formation in n-heptanol- induced corneal injury. Ophthalmic Res 30:96-100, 1998
Prevalence of congenital malformations and genetic diseases in Korea. J Hum Genet 44:30-34, 1999
Effect of topically applied 0.1% dexamethasone on endothelial healing and aqueous composition during the repair process of rabbit corneal alkali wounds. Curr Eye Res 18:110-116, 1999
Pyloric atresia with junctional epidermolysis bullosa syndrome: absence of detectable 4 integrin and reduced expression of epidermal linear IgA dermatosis antigen. Int J Dermatol, 38:464-473, 1999
Chromosome abnormalities in a referred population for suspected chromosomal aberrations: A report of 4117 cases. J Kor Med Sci 14:373-376, 2000
Characterization of a novel DNA polymorphism in the human CYP 21 gene and application for DNA diagnosis of congenital adrenal hyperplasia. Clin Endocrinol 53:419-422, 2000
Expression of genes involved in mammalian meiosis during the transition from egg to embryo. Mol Reprod Develop 2001
Characterization of a novel DNA polymorphism in the human CYP21 gene and application for DNA diagnosis of congenital adrenal hyperplasia
CLINICAL ENDOCRINOLOGY 53/0 :419-422,2000
A Korean girl with alpha-aminoadipic and alpha-ketoadipic aciduria accompanied with elevation of 2-hydroxyglutarate and glutarate.
J Inher Metabol Dis 24/0 :509-510,2001
Expression of genes involved in mammalian meiosis during the transition from egg to embryo
MOLECULAR REPRODUCTION AND DEVELOPMENT 0/0 :1-15,2001
ON THE CONSISTENT IDENTIFICATION PROCEDURES OF AU-TOREGRESSIVE MOVING-AVERAGE PROCESS
YONSEI BUSINESS REVIEW 24/1 :191-210,2002
Identification of MARCKS, FLJ11383 and TAF1B as putative novel target genes in colorectal carcinomas with mocrosatellite instability
ONCOGENE 21/21 :5081-5087,2002
In vivo differentiation of mouse embryonic stem cells into hepatocytes
CELL TRANSPLANTATION / :-,2002
선천성 근긴장성 이영양증 1례
대한신생아학회지(Journal of Korean Society Neonatology) 9/2 :204-210,2002
신생아기에 진단된 미토콘드리아 호흡 사슬 결함 1례
대한주산의학회지(Korean Journal Of Perinatology) 14/1 :50-55,2003
신생아 지속성 폐동맥 고혈압증을 동반한 태아 알코올 증후군 1례
KOREAN JOURNAL OF PEDIATRICS 47/11 :1220-1224,2004
중증근무력증 환자의 CTLA-4 유전자 다형성
대한신경과학회지(JournalOfTheKoreanNeurologicalAssociation) 22/5 :504-507,2004
Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel 59insC/Q425P mutations in integrin β4 gene (ITGB4)
EXPERIMENTAL DERMATOLOGY 13/ :61-64,2004
Recombinant adeno-associated virus mediated gene transfer in a mouse model for homocystinuria
EXPERIMENTAL AND MOLECULAR MEDICINE 38/6 :652-661,2006
PADB: Published association database
BMC BIOINFORMATICS 8/ :348-,2007
Temporal bone CT findings in Cornelia de Lange syndrome
American Journal Of Neuroradiology 29/ :569-573,2008
한국인 von Hippel-Lindau 병 환자에서 신세포암의 임상적 특성
Korean Journal of Urology 49/10 :863-867,2008
Newly observed thalamic involvement and mutations of the HEXA gene in a Korean patient with juvenile GM2 gangliosidosis
Metabolic Brain Disease 23/3 :235-242,2008
De novo interstitial direct duplication 8 (p21.3p23.1) with Pierre Robin sequence
Korean Journal of Pediatrics 52/5 :603-606,2009
MedRefSNP: A database of medically investigated SNPs
Human Mutation 30/3 :460-466,2009
Clinical 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 24/6 :1145-1149,2009
Behavioral improvement after transplantation of neural precursors derived from embryonic stem cells into the globally ischemic brain of adolescent rats
Brain & Development 32/8 :658-668,2010
신생아기에 진단된 미토콘드리아 질환 3례
Journal Of The Korean Society Of Neonatology(대한신생아학회지) 17/2 :254-261,2010
Survival analysis of spinal muscular atrophy type I
Korean Journal of Pediatrics 53/11 :965-970,2010
X-linked Myotubular Myopathy in a Family with Two Infant Siblings: A Case with MTM1 Mutation
YONSEI MEDICAL JOURNAL 52/3 :547-550,2011
Acute treatment of hyperammonemia by continuous renal replacement therapy in a newborn patient with ornithine transcarbamylase deficiency
Korean Journal of Pediatrics 54/10 :425-428,2011
The first case of familial mediterranean fever associated with renal amyloidosis in Korea
YONSEI MEDICAL JOURNAL 53/2 :454-458,2012
Genetic and Epileptic Features in Rett Syndrome
YONSEI MEDICAL JOURNAL 53/3 :495-500,2012
A modified Atkin's diet for an infant with pyruvate dehydrogenase complex deficiency confirmed by PDHA1 gene mutation
NEUROLOGY ASIA 19/3 :327-329,2014
Germline mutation of Glu70Lys is highly frequent in Korean patients with von Hippel-Lindau (VHL) disease
JOURNAL OF HUMAN GENETICS 59/9 :488-493,2014
Novel mutations of KIT gene in two Korean patients: Variegated shades of phenotypes in tyrosine kinase 1 domain
JOURNAL OF DERMATOLOGICAL SCIENCE 76/1 :74-76,2014
Lipidomic profiling of plasma and urine from patients with Gaucher disease during enzyme replacement therapy by nanoflow liquid chromatography-tandem mass spectrometry
JOURNAL OF CHROMATOGRAPHY A 1381/0 :132-139,2015
Complete form of pachydermoperiostosis with SLCO2A1 gene mutation in a Korean family
JOURNAL OF DERMATOLOGY 42/6 :655-657,2015
천식 치료 중 우연히 발견된 Birt-Hogg-Dube 증후군 1예
Allergy Asthma & Respiratory Disease 3/3 :232-235,2015
Unravelling the mechanism of action of enzyme replacement therapy in Fabry disease
JOURNAL OF HUMAN GENETICS 61/2 :143-149,2016
Mucocutaneous Telangiectasia as a Diagnostic Clue of Hereditary Hemorrhagic Telangiectasia: An Activin Receptor-Like Kinase-1 Mutation in a Korean Patient
ANNALS OF DERMATOLOGY 28/2 :264-266,2016
Variations 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 408/9 :2265-2274,2016
Identification of disease comorbidity through hidden molecular mechanisms
SCIENTIFIC REPORTS 6/39433 :1-8,2016
Diagnosis of Severe Protein C Deficiency Confirmed by Presence of Rare PROC Gene Mutation
Neonatal medicine 23/4 :233-237,2016
Mucocutaneous Telangiectasia as a Diagnostic Clue of Hereditary Hemorrhagic Telangiectasia: An Activin Receptor-Like Kinase-1 Mutation in a Korean Patient
ANNALS OF DERMATOLOGY 28/2 :264-266,2016
Congenital Orbital Fibrosis: Molecular Genetic Analysis by Whole-Exome and Mitochondrial Genome Sequencing
YONSEI MEDICAL JOURNAL 58/5 :1,078-1,080,2017
A Patient Diagnosed with Spinocerebellar Ataxia Type 5 associated with SPTBN2: Case Repor
Journal of the Korean Child Neurology Society(대한소아신경학회지) 25/3 :200-203,2017
Clinical application of next-generation sequencing for the diagnosis of segmental neurofibromatosis
JOURNAL OF DERMATOLOGICAL SCIENCE 88/3 :370-372,2017
Prevalence of Rare Genetic Variations and Their Implications in NGS-data Interpretation
SCIENTIFIC REPORTS 7/ :1038-1-1038-10,2017
Alpers-Huttenlocher Syndrome First Presented with Hepatic Failure: Can Liver Transplantation Be Considered as Treatment Option?
Pediatric Gastroenterology, Hepatology & Nutrition 20/4 :259-262,2017
A Novel Heterozygous ANO3 Mutation with Basal Ganglia Dysfunction in a Patient with Adult-Onset Isolated Segmental Dystonia
JOURNAL OF CLINICAL NEUROLOGY 14/4 :596-597,2018
Oral Pyridostigmine-Responsive Visceral Myopathy with ACTG2 Mutations: A case series
JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION 68/1 :e16-e17,2019
Genitopatellar syndrome secondary to de novo KAT6B mutation: The first genetically confirmed case in South Korea
YONSEI MEDICAL JOURNAL 60/4 :395-398,2019
Fructose-1,6-bisphosphatase deficiency presented with complex febrile convulsion
NEUROENDOCRINOLOGY LETTERS 39/8 :533-536,2019
Implementation of a Targeted Next-Generation Sequencing Panel for Constitutional Newborn Screening in High-Risk Neonates
YONSEI MEDICAL JOURNAL 60/11 :1,061-1,066,2019