Detalhe da pesquisa
1.
CRYAB stop-loss variant causes rare syndromic dilated cardiomyopathy with congenital cataract: expanding the phenotypic and mutational spectrum of alpha-B crystallinopathy.
J Hum Genet;
69(3-4): 159-162, 2024 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38212463
2.
Clinical feature, GALC variant spectrum, and genotype-phenotype correlation in Korean Krabbe disease patients: Multicenter experience over 13 years.
Clin Genet;
2024 Mar 22.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38515343
3.
Performance evaluation of Automated Fluorescent Immunoassay System ROTA and NORO for detection of rotavirus and norovirus: A comparative study of assay performance with RIDASCREEN® Rotavirus and Norovirus.
J Clin Lab Anal;
35(1): e23585, 2021 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32969071
4.
Long-term oncologic outcomes of unselected triple-negative breast cancer patients according to BRCA1/2 mutations.
NPJ Precis Oncol;
8(1): 96, 2024 Apr 30.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38689097
5.
Reclassification of variants of tumor suppressor genes based on Sanger RNA sequencing without NMD inhibition.
Front Genet;
14: 1283611, 2023.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37900184
6.
Detecting Donor-Derived DNA by Real-Time PCR in Recipients Suspected of Graft-Versus-Host-Diseases After Liver Transplantation: A Case Series and Literature Review.
Ann Transplant;
28: e938287, 2023 Feb 25.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36840341
7.
Genetic Diagnosis of Children With Neurodevelopmental Disorders Using Whole Genome Sequencing.
Pediatr Neurol;
149: 44-52, 2023 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37776660
8.
Whole-genome sequencing in clinically diagnosed Charcot-Marie-Tooth disease undiagnosed by whole-exome sequencing.
Brain Commun;
5(3): fcad139, 2023.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37180992
9.
Enrichment of titin-truncating variants in exon 327 in dilated cardiomyopathy and its relevance to reduced nonsense-mediated mRNA decay efficiency.
Front Genet;
13: 1087359, 2022.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36685919
10.
Performance Evaluation of SpliceAI for the Prediction of Splicing of NF1 Variants.
Genes (Basel);
12(9)2021 08 25.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34573290
11.
Identification of the novel HLA-C*01:202 allele in a Korean individual.
HLA;
97(6): 560-561, 2021 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33609016
12.
Levetiracetam Therapeutic Drug Monitoring in a Large Cohort of Korean Epileptic Patients.
Pharmaceuticals (Basel);
14(8)2021 Aug 23.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34451923
13.
The Identification of a Novel Thiopurine S-Methyltransferase Allele, TPMT*45, in Korean Patient with Crohn's Disease.
Pharmgenomics Pers Med;
13: 665-671, 2020.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33273844
14.
First Case in Korea of a Patient With Anti-PP1Pk Antibodies: Successful Blood Management via Acute Normovolemic Hemodilution.
Ann Lab Med;
39(6): 602-605, 2019 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31240895