Park J - Search Results

1

Case Report: Novel Likely Pathogenic ACTN2 Variant Causing Heterogeneous Phenotype in a Korean Family With Left Ventricular Non-compaction.

Park J, Cho YG, Park HW, Cho JS. Park J, et al. Among authors: park hw. Front Pediatr. 2021 Mar 30;9:609389. doi: 10.3389/fped.2021.609389. eCollection 2021. Front Pediatr. 2021. PMID: 33859969 Free PMC article.

2

Targeted Next-Generation Sequencing of Korean Patients With Developmental Delay and/or Intellectual Disability.

Han JY, Jang JH, Park J, Lee IG. Han JY, et al. Among authors: park j. Front Pediatr. 2018 Dec 17;6:391. doi: 10.3389/fped.2018.00391. eCollection 2018. Front Pediatr. 2018. PMID: 30631761 Free PMC article.

3

Trio-Based Whole-Exome Sequencing Identifies a De novo EFNB1 Mutation as a Genetic Cause in Female Infant With Brain Anomaly and Developmental Delay.

Han JY, Kim HJ, Jang JH, Lee IG, Park J. Han JY, et al. Among authors: park j. Front Pediatr. 2020 Sep 1;8:461. doi: 10.3389/fped.2020.00461. eCollection 2020. Front Pediatr. 2020. PMID: 32984200 Free PMC article.

4

Phenotypic Diversity of Cardiomyopathy Caused by an MYBPC3 Frameshift Mutation in a Korean Family: A Case Report.

Park J, Lee JM, Cho JS. Park J, et al. Medicina (Kaunas). 2021 Mar 18;57(3):281. doi: 10.3390/medicina57030281. Medicina (Kaunas). 2021. PMID: 33803538 Free PMC article.

5

3D Printed Personalized External Aortic Root Model in Marfan Syndrome with Isolated Sinus of Valsalva Aneurysm Caused by a Novel Pathogenic FBN1 p.Gly1127Cys Variant.

Cho JS, Park J, Kwon JB, Kim DW, Park MW. Cho JS, et al. Among authors: park mw, park j. Diagnostics (Basel). 2021 Jun 8;11(6):1057. doi: 10.3390/diagnostics11061057. Diagnostics (Basel). 2021. PMID: 34201307 Free PMC article.

6

Copy number variation analysis using next-generation sequencing identifies the CFHR3/CFHR1 deletion in atypical hemolytic uremic syndrome: a case report.

Park J, Yhim HY, Kang KP, Bae TW, Cho YG. Park J, et al. Hematology. 2022 Dec;27(1):603-608. doi: 10.1080/16078454.2022.2075121. Hematology. 2022. PMID: 35617302 Free article.

7

Gene Panel Sequencing Identifies a Novel RYR1 p.Ser2300Pro Variant as Candidate for Malignant Hyperthermia with Multi-Minicore Myopathy.

Moon YJ, Park J, Kim JR, Lee SY, Lee J, Cho YG, Kim DS. Moon YJ, et al. Among authors: park j. Genes (Basel). 2022 Sep 26;13(10):1726. doi: 10.3390/genes13101726. Genes (Basel). 2022. PMID: 36292611 Free PMC article.

8

Targeted Panel Sequencing Identifies an Intronic c.5225-3C>G Variant of the FBN1 Gene Causing Sporadic Marfan Syndrome with Annuloaortic Ectasia.

Kim KH, Kim TY, Kim SJ, Cho YG, Park J, Jang W. Kim KH, et al. Among authors: park j. Genes (Basel). 2022 Nov 13;13(11):2108. doi: 10.3390/genes13112108. Genes (Basel). 2022. PMID: 36421783 Free PMC article.

9

Case report: Compound heterozygosity in PKLR gene with a large exon deletion and a novel rare p.Gly536Asp variant as a cause of severe pyruvate kinase deficiency.

Kim M, Lee SY, Kim N, Lee J, Kim DS, Park J, Cho YG. Kim M, et al. Among authors: park j. Front Pediatr. 2022 Dec 1;10:1022980. doi: 10.3389/fped.2022.1022980. eCollection 2022. Front Pediatr. 2022. PMID: 36533240 Free PMC article.

10

Accuracy Validation of the Elecsys HBsAg II Quant Assay and Its Utility in Resolving Equivocal Qualitative HBsAg Results.

Lee J, Lee SY, Cho YG, Kim DS, Park J. Lee J, et al. Among authors: park j. Medicina (Kaunas). 2023 Feb 23;59(3):443. doi: 10.3390/medicina59030443. Medicina (Kaunas). 2023. PMID: 36984443 Free PMC article.

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