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  해당 관련 논문목록과 초록보기 링크 제공

  Histopathological assessment of laterality defects in zebrafish development Children 2023 Jan; 10(1): 76	초록보기
  The First Korean Case of VEXAS Syndrome Caused by a UBA1 Somatic Variant Annals of Laboratory Medicine 2023 Mar 1;43(2):217-220	초록보기
  Frequency of actionable secondary findings in 7,472 Korean genomes derived from the National Project of Bio Big Data pilot study Human Genetics 2023 Nov;142(11):1561-1569	초록보기
  Optimal protocols and management of clinical and genomic data collection to assist in the early diagnosis and treatment of multiple congenital anomalies Children 2023 Oct 10;10(10):1673	초록보기
  Nutritional status is associated with preserved kidney function in patients with autosomal dominant polycystic kidney disease Journal of Renal Nutrition 2023 Jul;33(4):529-537	초록보기
  Factors associated with the development and severity of polycystic liver in patients with autosomal dominant polycystic kidney disease Journal of Korean Medical Science 2023 Sep 25;38(38):e296	초록보기
  Baseline characteristics of the Korean genetic cohort of inherited cystic kidney disease Kidney Research and Clinical Practice 2023 Sep;42(5):617-627	초록보기

  해당 관련 논문목록과 초록보기 링크 제공

  High expression of uracil DNA glycosylase determines C to T substitution in human pluripotent stem cells Molecular Therapy-Nucleic Acids 2022 Mar 8; 27: 175–183	초록보기
  Multiple isogenic GNE-myopathy modeling with mutation specific phenotypes from human pluripotent stem cells by base editors Biomaterials 2022 Mar:282:121419	초록보기
  A Case of AOA2 With Compound Heterozygous SETX Mutations Journal of Movement Disorders 2022 May;15(2):178-180	초록보기
  TNNT1 myopathy with novel compound heterozygous mutations Neuromuscular Disorders 2022 Feb;32(2):176-184	초록보기
  Modeling axonal regeneration by changing cytoskeletal dynamics in stem cell-derived motor nerve organoids Scientific Reports 2022 Feb 8;12(1):2082	초록보기
  The extended clinical and genetic spectrum of CTNNB1-related neurodevelopmental disorder Frontiers in Pediatrics 2022 Jul 22:10:960450	초록보기
  The Korean undiagnosed diseases program phase I: expansion of the nationwide network and the development of long-term infrastructure Orphanet Journal of Rare Diseases 2022 Oct 8;17(1):372	초록보기
  Relapsing polychondritis with multiple neurologic manifestations Acta Neurologica Belgica 2022 Oct;122(5):1397-1398	초록보기
  Fatal systemic disorder caused by biallelic variants in FARSA Orphanet Journal of Rare Diseases 2022 Aug 2;17(1):306	초록보기
  Spinocerebellar Ataxia 48 Patient With a Novel De Novo Variant of STUB1 Journal of Clinical Neurology 2022 Nov;18(6):714-716	초록보기
  Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter Study Ophthalmology 2022 Jun;129(6):708-718	초록보기
  Noncanonical Splice Site and Deep Intronic FRMD7 Variants Activate Cryptic Exons in X-linked Infantile Nystagmus Translational vision science & technology 2022 Jun 1;11(6):25	초록보기
  Mayo imaging classification is a good predictor of rapid progress among Korean patients with autosomal dominant polycystic kidney disease: results from the KNOW-CKD study Kidney Research and Clinical Practice 2022 Jul;41(4):432-441	초록보기

  해당 관련 논문목록과 초록보기 링크 제공

  Histopathological assessment of laterality defects in zebrafish development Animal cells and systems 2021 May 26;25(3):136-145	초록보기
  ZIP8 exacerbates collagen-induced arthritis by increasing pathogenic T cell responses Experimental and molecular medicine 2021 Apr;53(4):560-571	초록보기
  Genetic Characteristics and Phenotype of Korean Patients with Stickler Syndrome: A Korean Multicenter Analysis Report No. 1 Genes 2021 Oct 5;12(10):1578	초록보기
  Clinical utility gene card for FRMD7-related infantile nystagmus European Journal of Human Genetics 2021 Oct;29(10):1584-1588	초록보기
  DYNC2H1 variants cause Leber congenital amaurosis without syndromic features Clinical Genetics 2021 Jul;100(1):111-113	초록보기
  Genetic diagnosis of infantile-onset epilepsy in the clinic: Application of whole-exome sequencing following epilepsy gene panel testing Clinical Genetics 2021 Mar;99(3):418-424	초록보기
  Genotype and Long-term Clinical Course of Bietti Crystalline Dystrophy in Korean and Japanese Patients Ophthalmology Retina 2021 Dec;5(12):1269-1279	초록보기
  Clinical and Genetic Characteristics of Korean Congenital Stationary Night Blindness Patients Genes 2021 May 21;12(6):789	초록보기
  In silico identification of a common mobile element insertion in exon 4 of RP1 Scientific Reports 2021 Jun 28;11(1):13381	초록보기
  TUBB3 M323V Syndrome Presents with Infantile Nystagmus Genes 2021 Apr 15;12(4):575	초록보기
  Risk factors and prognosis of adult-onset post-pump chorea Journal of the neurological sciences 2021 Mar 15:422:117328	초록보기
  Optical Coherence Tomography Findings Facilitate the Diagnosis of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay Korean J Ophthalmol 2021 Aug;35(4):330-331	초록보기
  Pathogenic NR2F1 variants cause a developmental ocular phenotype recapitulated in a mutant mouse model Brain communications 2021 Jul 20;3(3):fcab162	초록보기
  CD71 mesangial IgA1 receptor and the progression of IgA nephropathy Translational Research 2021 Apr;230:34-43	초록보기
  Comparison of MOG and AQP4 Antibody Seroprevalence in Korean Adults with Inflammatory Demyelinating CNS Diseases Multiple Sclerosis Journal 2021 May;27(6):964-967	초록보기
  Aberrant expression of PAX6 gene associated with classical aniridia: identification and functional characterization of novel noncoding mutations Journal of human genetics 2021 Mar;66(3):333-338	초록보기
  RP2 Rod–Cone Dystrophy Causes Spasmus Nutans–Like Nystagmus Journal of Neuro-Ophthalmology 2021 Mar 1;41(1):e91-e93	초록보기

  해당 관련 논문목록과 초록보기 링크 제공

  Incidence of tuberculosis in systemic necrotizing vasculitides: a population-based study from an intermediate-burden country Frontiers in Medicine 2020 Oct 22:7:550004	초록보기
  Predictive value of mesangial C3 and C4d deposition in IgA nephropathy Clinical Immunology 2020 Feb:211:108331	초록보기
  Biallelic mutations in ABCB1 display recurrent reversible encephalopathy Annals of Clinical and Translational Neurology 2020 Aug;7(8):1443-1449	초록보기
  Novel compound heterozygous ACO2 mutations in an infant with progressive encephalopathy: A newly identified neurometabolic syndrome Brain & Development 2020 Oct;42(9):680-685	초록보기
  The Functional Roles and Applications of Immunoglobulins in Neurodegenerative Disease International Journal of Molecular Sciences 2020 Jul 26;21(15):5295	초록보기
  Copy number variations and multiallelic variants in Korean patients with Leber congenital amaurosis Molecular Vision 2020 Feb 24:26:26-35	초록보기
  Clinical Features of Intra-Abdominal Abscess and Intestinal Free-Wall Perforation in Korean Patients with Crohn’s Disease: Results from the CONNECT Study Journal of Clinical Medicine 2020 Dec 31;10(1):116	초록보기
  Clarification of undiagnosed ataxia using whole-exome sequencing with clinical implications Parkinsonism and Related Disorders 2020 Nov:80:58-64	초록보기