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Frontiers in Genetics|June 14, 2021
Genetic Analysis Using a Next Generation Sequencing-Based Gene Panel in Patients With Skeletal Dysplasia: A Single-Center ExperienceSu Jin Kim, Sae-Mi Lee, Jong-Moon Choi, et al.Annals of Pediatric Endocrinology & Metabolism|January 18, 2022
First female Korean child with Coffin-Lowry syndrome: a novel variant in RPS6KA3 diagnosed by exome sequencing and a literature reviewAri Song, Minji Im, Min-Sun Kim, 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.Plos One|February 10, 2022
Development and Evaluation of AccuPower COVID-19 Multiplex Real-Time RT-PCR Kit and AccuPower SARS-CoV-2 Multiplex Real-Time RT-PCR Kit for SARS-CoV-2 Detection in Sputum, NPS/OPS, Saliva and Pooled SamplesIn Bum Suh, Jaegyun Lim, Hyo Seon Kim, 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 5