Browsing by Yonsei Author : Lee, Hyun Joo

eperson profile image
Name:
Lee, Hyun Joo [이현주]
orcid http://orcid.org/0000-0002-1432-0449
Department :
College of Medicine (의과대학) - Dept. of Pediatrics (소아과학교실)

Keyword Cloud

Researcher Network

Showing results 1 to 21 of 21

This table browses all dspace content
Issue DateTitleJournal Title
2021DYNC2H1 variants cause Leber congenital amaurosis without syndromic featuresCLINICAL GENETICS
2021Clinical Value of Magnetic Resonance Spectroscopy in the Initial Evaluation of Patients with Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes Annals of Child Neurology
2021Complete Penetrance but Different Phenotypes in a Korean Family with Maternal Interstitial Duplication at 15q11.2-q13.1: A Case Report CHILDREN-BASEL
2021Toxic Leukoencephalopathy by Accidental Oral Ingestion of an Infant’s Fentanyl Patch Annals of Child Neurology
2021Unusual Clinical Presentations in a Patient with Novel ADCK3 Variants Annals of Child Neurology
2021FLNA Duplication in a Female Infant with Periventricular Nodular Heterotopia Annals of Child Neurology
2020A case of Galloway-Mowat syndrome with novel compound heterozygous variants in the WDR4 gene Journal of Genetic Medicine(대한의학유전학회지)
2020EPG5 유전자 변이가 확인된 Vici 증후군 1례 Journal of the Korean Society of Inherited Metabolic Disease(대한유전성대사질환학회지)
2020Identification of Missense ADGRV1 Mutation as a Candidate Genetic Cause of Familial Febrile Seizure 4 CHILDREN-BASEL
2019Implementation of a Targeted Next-Generation Sequencing Panel for Constitutional Newborn Screening in High-Risk Neonates YONSEI MEDICAL JOURNAL
2019Fructose-1,6-bisphosphatase deficiency presented with complex febrile convulsion Neuro Endocrinology Letters
2019Genitopatellar Syndrome Secondary to De Novo KAT6B Mutation: The First Genetically Confirmed Case in South Korea YONSEI MEDICAL JOURNAL
2019Oral Pyridostigmine-responsive Visceral Myopathy With ACTG2 Mutations: A Case SeriesJOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION
2018A Novel Heterozygous ANO3 Mutation with Basal Ganglia Dysfunction in a Patient with Adult-Onset Isolated Segmental Dystonia. JOURNAL OF CLINICAL NEUROLOGY
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
2017Congenital Orbital Fibrosis: Molecular Genetic Analysis by Whole-Exome and Mitochondrial Genome Sequencing.YONSEI MEDICAL JOURNAL
2016Subclinical Hypothyroidism in Childhood Cancer Survivors. YONSEI MEDICAL JOURNAL
2015이차적 사경을 증상으로 한 척추 종양 Journal of the Korean Child Neurology Society
2015Leigh 증후군 환자의 임상적 생화학적 진단 Journal of the Korean Society of Inherited Metabolic Disease (대한유전성대사질환학회지)
2014Primary central nervous system anaplastic large cell lymphoma presenting initially with meningitis NEUROLOGY ASIA
1

Browse

Links