Joonhong Park

Prof. Dr. Joonhong Park

Jeonbuk National University Medical School
orcid

Biography

A novel EPB41 p.Trp704* mutation in a Korean patient with hereditary elliptocytosis: a case report. Hematology. 2020 Dec;25(1):321-326. Genetic profiling of somatic alterations by Oncomine Focus Assay in Korean patients with advanced gastric cancer. Oncol Lett. 2020 Nov;20(5):129. Analytical and Potential Clinical Performance of Oncomine Myeloid Research Assay for Myeloid Neoplasms. Mol Diagn Ther. 2020 Oct;24(5):579-592. Identification of Missense ADGRV1 Mutation as a Candidate Genetic Cause of Familial Febrile Seizure 4. Children (Basel). 2020 Sep 18;7(9):144. Coexistence of digenic mutations in the collagen VI genes (COL6A1 and COL6A3) leads to Bethlem myopathy. Clin Chim Acta. 2020 Sep;508:28-32. Trio-Based Whole-Exome Sequencing Identifies a De novo EFNB1 Mutation as a Genetic Cause in Female Infant With Brain Anomaly and Developmental Delay. Front Pediatr. 2020 Sep 1;8:461. A novel SYNE2 mutation identified by whole exome sequencing in a Korean family with Emery-Dreifuss muscular dystrophy. Clin Chim Acta. 2020 Jul;506:50-54.

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