Detalhe da pesquisa
1.
Clinical implication by differential analytical performances of serum free light chain quantitation analysis using fully automated analyzers.
Clin Chem Lab Med
; 61(7): 1288-1299, 2023 06 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37015073
2.
Differential genetic diagnoses of adult post-lingual hearing loss according to the audiogram pattern and novel candidate gene evaluation.
Hum Genet
; 141(3-4): 915-927, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-34519870
3.
COCH-related autosomal dominant nonsyndromic hearing loss: a phenotype-genotype study.
Hum Genet
; 141(3-4): 889-901, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-34529116
4.
Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy.
Am J Hum Genet
; 104(1): 45-54, 2019 01 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30609407
5.
Association of vancomycin trough concentration on the treatment outcome of patients with bacteremia caused by Enterococcus species.
BMC Infect Dis
; 21(1): 1099, 2021 Oct 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-34702193
6.
ZMYND10 stabilizes intermediate chain proteins in the cytoplasmic pre-assembly of dynein arms.
PLoS Genet
; 14(3): e1007316, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29601588
7.
Activation of KCNQ4 as a Therapeutic Strategy to Treat Hearing Loss.
Int J Mol Sci
; 22(5)2021 Mar 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33801540
8.
Germline BRCA, chemotherapy response scores, and survival in the neoadjuvant treatment of ovarian cancer.
BMC Cancer
; 20(1): 185, 2020 Mar 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32131779
9.
Genetic Inheritance of Late-Onset, Down-Sloping Hearing Loss and Its Implications for Auditory Rehabilitation.
Ear Hear
; 41(1): 114-124, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-31045651
10.
A recurrent mutation in KCNQ4 in Korean families with nonsyndromic hearing loss and rescue of the channel activity by KCNQ activators.
Hum Mutat
; 40(3): 335-346, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30556268
11.
CRISPR-Cas9 In Vivo Gene Editing for Transthyretin Amyloidosis.
N Engl J Med
; 385(18): 1722, 2021 Oct 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-34706180
12.
The TECTA mutation R1890C is identified as one of the causes of genetic hearing loss: a case report.
BMC Med Genet
; 20(1): 57, 2019 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30935366
13.
Diagnostic application of clinical exome sequencing in Leber congenital amaurosis.
Mol Vis
; 23: 649-659, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28966547
14.
Comparison of Six Automated Treponema-Specific Antibody Assays.
J Clin Microbiol
; 54(1): 163-7, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26560543
15.
Assessment of Urine Proteomics in Type 1 Primary Hyperoxaluria.
Am J Nephrol
; 43(4): 293-303, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27161247
16.
Transfusion demand in COVID-19 patients from the Korean population: a nationwide study in South Korea.
Br J Haematol
; 190(6): e323-e326, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32677031
17.
Associations of LDL Cholesterol, Non-HDL Cholesterol, and Apolipoprotein B With Cardiovascular Disease Occurrence in Adults: Korean Genome and Epidemiology Study.
Ann Lab Med
; 43(3): 237-243, 2023 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36544335
18.
Performance Evaluation of the DxC 700 AU Chemistry Analyzer in Hemoglobin A1c Measurement
Ann Lab Med
; 43(2): 167-173, 2023 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36281510
19.
Disease modeling of ADAMTS9-related nephropathy using kidney organoids reveals its roles in tubular cells and podocytes.
Front Med (Lausanne)
; 10: 1089159, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37035301
20.
Comparison of blood collection tubes for 29 biochemical analytes in pediatric patients with central venous catheters.
Clin Biochem
; 107: 73-79, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-35545160