Detalhe da pesquisa
1.
Next-generation sequencing using tissue specimen collected with a 1.1 mm-diameter cryoprobe in patients with lung cancer.
Respirology
; 29(4): 333-339, 2024 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-38379178
2.
16S rRNA Next-Generation Sequencing May Not Be Useful for Examining Suspected Cases of Spontaneous Bacterial Peritonitis.
Medicina (Kaunas)
; 60(2)2024 Feb 08.
Artigo
Inglês
| MEDLINE | ID: mdl-38399576
3.
Identification of pathogenic variants in genes related to channelopathy and cardiomyopathy in Korean sudden cardiac arrest survivors.
J Hum Genet
; 62(6): 615-620, 2017 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-28202948
4.
Whole-Exome Sequencing and Analysis of the T Cell Receptor ß and γ Repertoires in Rheumatoid Arthritis.
Diagnostics (Basel)
; 14(5)2024 Mar 01.
Artigo
Inglês
| MEDLINE | ID: mdl-38473001
5.
Gardnerella vaginalis in Recurrent Urinary Tract Infection Is Associated with Dysbiosis of the Bladder Microbiome.
J Clin Med
; 11(9)2022 Apr 20.
Artigo
Inglês
| MEDLINE | ID: mdl-35566419
6.
Urinary Microbiome Characteristics in Female Patients with Acute Uncomplicated Cystitis and Recurrent Cystitis.
J Clin Med
; 10(5)2021 Mar 05.
Artigo
Inglês
| MEDLINE | ID: mdl-33807946
7.
A Novel Heterozygous Missense Variant (c.667G>T;p.Gly223Cys) in USH1C That Interferes With Cadherin-Related 23 and Harmonin Interaction Causes Autosomal Dominant Nonsyndromic Hearing Loss.
Ann Lab Med
; 40(3): 224-231, 2020 May.
Artigo
Inglês
| MEDLINE | ID: mdl-31858762
8.
Clinically relevant core genes for hematologic malignancies in clinical NGS panel testing.
Blood Res
; 58(4): 224-228, 2023 Dec 31.
Artigo
Inglês
| MEDLINE | ID: mdl-37926559
9.
First Molecular Diagnosis of a Patient with Unverricht-Lundborg Disease in Korea.
Yonsei Med J
; 59(6): 798-800, 2018 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-29978618
10.
Nonsyndromic Peripheral Pulmonary Artery Stenosis Is Associated With Homozygosity of RNF213 p.Arg4810Lys Regardless of Co-occurrence of Moyamoya Disease.
Chest
; 153(2): 404-413, 2018 02.
Artigo
Inglês
| MEDLINE | ID: mdl-28962888
11.
Novel 4-bp Intronic Deletion (c.1560+5_1560+8del) [corrected] in LEMD3 in a Korean Patient With Osteopoikilosis.
Ann Lab Med
; 37(6): 540-543, 2017 11.
Artigo
Inglês
| MEDLINE | ID: mdl-28840995
12.
First Report of Familial Dysalbuminemic Hyperthyroxinemia With an ALB Variant.
Ann Lab Med
; 37(1): 63-65, 2017 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-27834068
13.
Identification of Pathogenic Variants in the CHM Gene in Two Korean Patients With Choroideremia.
Ann Lab Med
; 37(5): 438-442, 2017 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-28643494
14.
Development of Crohn's Disease in a Child With SLC26A3-related Congenital Chloride Diarrhea: Report of the First Case in East Asia and a Novel Missense Variant.
Ann Lab Med
; 41(2): 255-257, 2021 Mar 01.
Artigo
Inglês
| MEDLINE | ID: mdl-33063691
15.
Clinical Characteristics of Marfan Syndrome in Korea.
Korean Circ J
; 46(6): 841-845, 2016 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-27826344
16.
Mutation Analysis of the TGFBI Gene in Consecutive Korean Patients With Corneal Dystrophies.
Ann Lab Med
; 35(3): 336-40, 2015 May.
Artigo
Inglês
| MEDLINE | ID: mdl-25932442
17.
Clinical Characteristics and Genotype-Phenotype Correlation of Korean Patients with Spinal and Bulbar Muscular Atrophy.
Yonsei Med J
; 56(4): 993-7, 2015 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-26069122
18.
Significance of myositis autoantibody in patients with idiopathic interstitial lung disease.
Yonsei Med J
; 56(3): 676-83, 2015 May.
Artigo
Inglês
| MEDLINE | ID: mdl-25837172
19.
Absence of HLA-B*1502 and HLA-A*3101 alleles in 9 Korean patients with antiepileptic drug-induced skin rash: a preliminary study.
Ann Lab Med
; 34(5): 372-5, 2014 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-25187890
20.
A Case of Antley-Bixler Syndrome With a Novel Likely Pathogenic Variant (c.529G>C) in the POR Gene.
Ann Lab Med
; 37(6): 559-562, 2017 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-28841001