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Scientific Reports|June 20, 2020
A novel de novo heterozygous DYRK1A mutation causes complete loss of DYRK1A function and developmental delayKyu-Sun Lee, Miri Choi, Dae-Woo Kwon, et al.Annals of Clinical and Laboratory Science|December 18, 2020
The First Korean Case of Baraitser-Winter Cerebro-Fronto-Facial Syndrome with a Novel Mutation in <i>ACTB</i> Diagnosed Via Targeted Gene Panel Sequencing and Literature ReviewGwang-Jun Choi, Min-Sun Kim, Hyojung Park, et al.Clinical Laboratory|January 13, 2022
Detection of Plasmodium vivax using Automated Hematology Analyzer in the Korean ArmySeung Gyu Yun, Jung Yoon, Keun Kim, et al.Brain & Development|February 15, 2018
Diagnostic challenge for the rare lysosomal storage disease: Late infantile GM1 gangliosidosisJin Sook Lee, Jong-Moon Choi, Moses Lee, et al.Annals of Laboratory Medicine|October 27, 2017
Application of Multigene Panel Sequencing in Patients with Prolonged Rate-corrected QT Interval and No Pathogenic Variants Detected in KCNQ1, KCNH2, and SCN5ASoo Hyun Seo, So Yeon Kim, Sung Im Cho, et al.Scientific Reports|November 12, 2020
Clinical characteristics and disease progression of retinitis pigmentosa associated with PDE6B mutations in Korean patientsYou Na Kim, Joon Seon Song, Seak Hee Oh, et al.Pageof 3