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Frontiers in Genetics|October 30, 2023
Reclassification of variants of tumor suppressor genes based on Sanger RNA sequencing without NMD inhibitionChanghee Ha, Ja-Hyun Jang, Young-Gon Kim, et al.
European Journal of Human Genetics : EJHG|July 23, 2025
Reassessment of variants of uncertain significance in tumor suppressor genes using new ClinGen PP1/PP4 criteria guidanceYoung-Gon Kim, Changhee Ha, Ja-Hyun Jang, et al.
Frontiers in Genetics|May 11, 2026
Clinical variant interpretation comparing two saturation genome editing-based functional studies for BRCA2Ju Hyeon Shin, Kyung Sun Park, Young-Gon Kim, et al.
Frontiers in Genetics|June 29, 2026
Correction: Clinical variant interpretation comparing two saturation genome editing-based functional studies for BRCA2Ju Hyeon Shin, Kyung Sun Park, Young-Gon Kim, et al.
Communications Biology|November 7, 2024
A spectrum of nonsense-mediated mRNA decay efficiency along the degree of mutational constraintYoung-Gon Kim, Hyunju Kang, Beomki Lee, et al.
Pediatric Neurology|September 30, 2023
Genetic Diagnosis of Children With Neurodevelopmental Disorders Using Whole Genome SequencingSunghwan Shin, Jiwon Lee, Young-Gon Kim, et al.
The Journal of Molecular Diagnostics : JMD|February 1, 2024
Enhancing the Reliability of PMP22 Copy Number Variation Detection with an Inherited Peripheral Neuropathy PanelJong Kwon Lee, Hyemi Kwon, Jong-Ho Park, et al.
Journal of Clinical Laboratory Analysis|January 18, 2024
Overcoming challenges associated with identifying FBN1 deep intronic variants through whole-genome sequencingJee Ah Kim, Mi-Ae Jang, Shin Yi Jang, et al.
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