Jong Eun Park

Publication Activity (10 Years)

Years Active: 2019-2023
Publications (10 Years): 5

Top Topics

Circulating Tumor Cells

Aortic Aneurysm

Respiratory Failure

Top Venues

Annals of laboratory medicine

Molecular genetics & genomic medicine

Pediatric research

Orphanet journal of rare diseases

This page only lists publications with an associated author ORCID identifier.

Publications

Jong Eun Park, Taeheon Lee, Kyeongsu Ha, Eun Hye Cho, Chang-Seok Ki
Carrier frequency and incidence of aromatic L-amino acid decarboxylase deficiency: a gnomAD-based study. Pediatric research (2023)
Eun Hye Cho, Jong Eun Park, Taeheon Lee, Kyeongsu Ha, Chang-Seok Ki
Carrier frequency and incidence estimation of RPE65-associated inherited retinal diseases in East Asian population by population database-based analysis. Orphanet journal of rare diseases 17 (1) (2022)
Yoomi Yeo, Jong Eun Park, Hyuk Sung Kwon
A Novel TTN Gene Variant c.95136T>G (p.Cys31712Trp) and Associated Clinical Characteristics in a Family With Suspected Hereditary Myopathy With Early Respiratory Failure. Annals of laboratory medicine 41 (6) (2021)
Jong Eun Park, Sun Ae Yun, Eun Youn Rho, Jong Hyun Yoon, Sue Shin, Change Seok Ki
Carrier Frequency of Spinal Muscular Atrophy in a Large-scale Korean Population. Annals of laboratory medicine 40 (4) (2020)
Jong Eun Park, Jin Seok Park, Shin Yi Jang, Seok Hee Park, Jong-Won Kim, Chang-Seok Ki, Duk-Kyung Kim
A novel SMAD6 variant in a patient with severely calcified bicuspid aortic valve and thoracic aortic aneurysm. Molecular genetics & genomic medicine 7 (5) (2019)