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1.
Issues, challenges, and future perspectives of genetic counseling in Republic of Korea: Perspectives of laboratory physicians based on a 2022 survey.
J Genet Couns
; 2024 Jan 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-38225817
2.
Relationship among genetic polymorphism of SLCO1B1, rifampicin exposure and clinical outcomes in patients with active pulmonary tuberculosis.
Br J Clin Pharmacol
; 87(9): 3492-3500, 2021 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-33538008
3.
Replication-Based Rearrangements Are a Common Mechanism for SNCA Duplication in Parkinson's Disease.
Mov Disord
; 35(5): 868-876, 2020 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-32039503
4.
The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles.
Am J Hum Genet
; 95(2): 143-61, 2014 Aug 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-25065914
5.
Consecutive analysis of mutation spectrum in the dystrophin gene of 507 Korean boys with Duchenne/Becker muscular dystrophy in a single center.
Muscle Nerve
; 55(5): 727-734, 2017 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-27593222
6.
Effects of interleukin-4 and interleukin-12B gene polymorphisms on hepatitis B virus vaccination.
Ann Hepatol
; 16(1): 63-70, 2017.
Artículo
en Inglés
| MEDLINE | ID: mdl-28051794
7.
Single nucleotide polymorphisms in the TGF-ß1 gene are associated with polycystic ovary syndrome susceptibility and characteristics: a study in Korean women.
J Assist Reprod Genet
; 34(1): 139-147, 2017 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-27796807
8.
Viral RNA in Blood as Indicator of Severe Outcome in Middle East Respiratory Syndrome Coronavirus Infection.
Emerg Infect Dis
; 22(10): 1813-6, 2016 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-27479636
9.
Microevolution of Outbreak-Associated Middle East Respiratory Syndrome Coronavirus, South Korea, 2015.
Emerg Infect Dis
; 22(2): 327-30, 2016 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-26814649
10.
Genotype-phenotype analysis of von Hippel-Lindau syndrome in Korean families: HIF-α binding site missense mutations elevate age-specific risk for CNS hemangioblastoma.
BMC Med Genet
; 17(1): 48, 2016 07 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-27439424
11.
Performance of two commercially available BCR-ABL1 quantification assays that use an international reporting scale.
Clin Chem Lab Med
; 54(7): 1157-60, 2016 Jul 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-26587743
12.
Novel COL2A1 variant (c.619G>A, p.Gly207Arg) manifesting as a phenotype similar to progressive pseudorheumatoid dysplasia and spondyloepiphyseal dysplasia, Stanescu type.
Hum Mutat
; 36(10): 1004-8, 2015 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-26183434
13.
Plasma CC-chemokine ligand 28 level is correlated with hematopoietic stem cells in human cord blood.
Transfusion
; 55(5): 1008-12, 2015 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-25412854
14.
Diagnostic Approaches to Investigate JAK2-Unmutated Erythrocytosis Based on a Single Tertiary Center Experience.
Mol Diagn Ther
; 28(3): 311-318, 2024 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-38568469
15.
Novel pathogenic PDX1 gene variant in a Korean family with maturity-onset diabetes of the young.
Cold Spring Harb Mol Case Stud
; 9(4)2023 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-37652665
16.
Universal Screening for Lynch Syndrome Compared with Pedigree-Based Screening: 10-Year Experience in a Tertiary Hospital.
Cancer Res Treat
; 55(1): 179-188, 2023 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-35313100
17.
Concordance of circulating tumor DNA and matched formalin-fixed paraffin-embedded tumor tissue in gastric cancer as a predictor of recurrence.
Korean J Clin Oncol
; 19(2): 45-51, 2023 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-38229488
18.
Comprehensive Study of Microsatellite Instability Testing and Its Comparison With Immunohistochemistry in Gastric Cancers.
J Gastric Cancer
; 23(2): 264-274, 2023 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-37129151
19.
A simplified two-marker immunohistochemistry strategy for Lynch syndrome screening in endometrial cancer patients.
Obstet Gynecol Sci
; 66(6): 537-544, 2023 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-37839795
20.
Evaluation of a Real-Time Reverse Transcription-PCR (RT-PCR) Assay for Detection of Middle East Respiratory Syndrome Coronavirus (MERS-CoV) in Clinical Samples from an Outbreak in South Korea in 2015.
J Clin Microbiol
; 55(8): 2554-2555, 2017 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-28566313