Park J - Search Results

1

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.

2

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.

3

Distinct Somatic Alteration Features Identified by Gene Panel Sequencing in Korean Triple-Negative Breast Cancer with High Ki67 Expression.

Sun WY, Lee J, Kim BK, Kim JO, Park J. Sun WY, et al. Among authors: park j. Diagnostics (Basel). 2021 Mar 1;11(3):416. doi: 10.3390/diagnostics11030416. Diagnostics (Basel). 2021. PMID: 33804295 Free PMC article.

4

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.

5

Phenotypic Diversity of 15q11.2 BP1-BP2 Deletion in Three Korean Families with Development Delay and/or Intellectual Disability: A Case Series and Literature Review.

Han JY, Park J. Han JY, et al. Among authors: park j. Diagnostics (Basel). 2021 Apr 19;11(4):722. doi: 10.3390/diagnostics11040722. Diagnostics (Basel). 2021. PMID: 33921555 Free PMC article.

6

Five Years' Experience with Gene Panel Sequencing in Hereditary Hemolytic Anemia Screened by Routine Peripheral Blood Smear Examination.

Kim N, Kim TY, Han JY, Park J. Kim N, et al. Among authors: park j. Diagnostics (Basel). 2023 Feb 17;13(4):770. doi: 10.3390/diagnostics13040770. Diagnostics (Basel). 2023. PMID: 36832257 Free PMC article.

7

The First Korean Case with Cardiac, Facial, and Digital Anomalies with Developmental Delay Caused by De Novo TRAF7 p.Arg655Gln Variant.

Kim KH, Han JY, Park J, Cho JS. Kim KH, et al. Among authors: park j. Int J Mol Sci. 2024 Mar 26;25(7):3701. doi: 10.3390/ijms25073701. Int J Mol Sci. 2024. PMID: 38612512 Free PMC article.

8

Identification of Missense ADGRV1 Mutation as a Candidate Genetic Cause of Familial Febrile Seizure 4.

Han JY, Lee HJ, Lee YM, Park J. Han JY, et al. Among authors: park j. Children (Basel). 2020 Sep 18;7(9):144. doi: 10.3390/children7090144. Children (Basel). 2020. PMID: 32962041 Free PMC article.

9

Complete Penetrance but Different Phenotypes in a Korean Family with Maternal Interstitial Duplication at 15q11.2-q13.1: A Case Report.

Han JY, Lee HJ, Lee YM, Park J. Han JY, et al. Among authors: park j. Children (Basel). 2021 Apr 20;8(4):313. doi: 10.3390/children8040313. Children (Basel). 2021. PMID: 33924158 Free PMC article.

10

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.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

71,648 results

Search Page

Filters