Detalhe da pesquisa
1.
Characteristics of germline mutations in Korean patients with pheochromocytoma/paraganglioma.
J Med Genet
; 59(1): 56-64, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33219105
2.
Consistent count region-copy number variation (CCR-CNV): an expandable and robust tool for clinical diagnosis of copy number variation at the exon level using next-generation sequencing data.
Genet Med
; 24(3): 663-672, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906491
3.
Parallel Analysis of Pre- and Postoperative Circulating Tumor DNA and Matched Tumor Tissues in Resectable Pancreatic Ductal Adenocarcinoma: A Prospective Cohort Study.
Clin Chem
; 68(12): 1509-1518, 2022 12 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36177751
4.
Intronic LINE-1 insertion in SLCO1B3 as a highly prevalent cause of rotor syndrome in East Asian population.
J Hum Genet
; 67(2): 71-77, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-34354231
5.
Night-time gastric acid suppression by tegoprazan compared to vonoprazan or esomeprazole.
Br J Clin Pharmacol
; 88(7): 3288-3296, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35146797
6.
Longitudinal proteomic profiling provides insights into host response and proteome dynamics in COVID-19 progression.
Proteomics
; 21(11-12): e2000278, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33945677
7.
Evidence of Severe Acute Respiratory Syndrome Coronavirus 2 Reinfection After Recovery from Mild Coronavirus Disease 2019.
Clin Infect Dis
; 73(9): e3002-e3008, 2021 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33219681
8.
Optimization and validation of a fluorogenic dipeptidyl peptidase 4 enzymatic assay in human plasma.
Anal Biochem
; 612: 113952, 2021 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32926865
9.
Sequential Analysis of Viral Load in a Neonate and Her Mother Infected With Severe Acute Respiratory Syndrome Coronavirus 2.
Clin Infect Dis
; 71(16): 2236-2239, 2020 11 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-32297925
10.
Viral RNA Load in Mildly Symptomatic and Asymptomatic Children with COVID-19, Seoul, South Korea.
Emerg Infect Dis
; 26(10): 2497-2499, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32497001
11.
Replication-Based Rearrangements Are a Common Mechanism for SNCA Duplication in Parkinson's Disease.
Mov Disord
; 35(5): 868-876, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32039503
12.
Safety, tolerability and pharmacokinetics and pharmacodynamics of HL2351, a novel hybrid fc-fused interleukin-1 receptor antagonist, in healthy subjects: A first-in-human study.
Br J Clin Pharmacol
; 86(2): 372-379, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31658396
13.
Mutation spectrum and biochemical features in infants with neonatal Dubin-Johnson syndrome.
BMC Pediatr
; 20(1): 369, 2020 08 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32758197
14.
Successful Pregnancy and Delivery with Intracytoplasmic Sperm Injection in HIV-Serodiscordant Couple: the First Case in Korea.
J Korean Med Sci
; 35(25): e197, 2020 Jun 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-32597043
15.
Excess Accumulation of Lipid Impairs Insulin Sensitivity in Skeletal Muscle.
Int J Mol Sci
; 21(6)2020 Mar 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32178449
16.
Comparative genomics of Mycoplasma pneumoniae isolated from children with pneumonia: South Korea, 2010-2016.
BMC Genomics
; 20(1): 910, 2019 Nov 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-31783732
17.
Genotypic profile and phenotype correlations of ABCA4-associated retinopathy in Koreans.
Mol Vis
; 25: 679-690, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31814693
18.
Successful preemptive therapy with single-dose rituximab for Epstein-Barr virus infection to prevent post-transplant lymphoproliferative disease after pediatric hematopoietic stem cell transplantation.
Transpl Infect Dis
; 21(6): e13182, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31556214
19.
Reclassification of BRCA1 and BRCA2 variants of uncertain significance: a multifactorial analysis of multicentre prospective cohort.
J Med Genet
; 55(12): 794-802, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30415210
20.
Erratum: Correction of Table: Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases.
J Korean Med Sci
; 34(35): e245, 2019 Sep 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31496144