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Ja-Hyun Jang

Showing results (1-10 of 152) with videos related to

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Annals of Pediatric Endocrinology & Metabolism|October 15, 2019
Congenital hypothyroidism due to thyroglobulin deficiency: a case report with a novel mutation in TG geneSeung Heo, Ja-Hyun Jang, Jeesuk Yu
Experimental & Molecular Medicine|April 13, 2026
Targeted long-read sequencing for high-resolution repeat profiling in myotonic dystrophy type 1Yoojung Han, Ja-Hyun Jang, Hyeshik Chang
Clinical Nephrology|February 9, 2021
Refractory ascites induced by mycophenolate in a pediatric kidney transplant patientJeong Yeon Kim, Ja-Hyun Jang, Heeyeon Cho
Genes|September 28, 2021
Performance Evaluation of SpliceAI for the Prediction of Splicing of <i>NF1</i> VariantsChanghee Ha, Jong-Won Kim, Ja-Hyun Jang
Diagnostics (Basel, Switzerland)|August 6, 2020
Incidental Severe Fatty Degeneration of the Erector Spinae in a Patient with L5-S1 Disc Extrusion Diagnosed with Limb-Girdle Muscular Dystrophy R2 Dysferin-RelatedDu Hwan Kim, Dae-Hyun Jang, Ja-Hyun Jang
Molecular Cytogenetics|January 22, 2015
TRIP11-PDGFRB fusion in a patient with a therapy-related myeloid neoplasm with t(5;14)(q33;q32) after treatment for acute promyelocytic leukemiaHoon-Gu Kim, Ja-Hyun Jang, Eun-Ha Koh
Nutrients|September 28, 2021
An Updated Comprehensive Review on Vitamin A and Carotenoids in Breast Cancer: Mechanisms, Genetics, Assessment, Current Evidence, and Future Clinical ImplicationsJee Ah Kim, Ja-Hyun Jang, Soo-Youn Lee
Annals of Pediatric Endocrinology & Metabolism|January 7, 2020
First identified Korean family with Tatton-Brown-Rahman Syndrome caused by the novel DNMT3A variant c.118G>C p.(Glu40Gln)Cha Gon Lee, Ja-Hyun Jang, Ji-Young Seo
Korean Journal of Ophthalmology : KJO|June 19, 2024
Mitochondrial Retinopathy by MT-ATP6 Variant Revealed by Whole-Genome Sequencing: A Case ReportJaehwan Choi, Sungsoon Hwang, Ja-Hyun Jang, et al.
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.
Pageof 16

Showing results (1-10 of 152) with videos related to

Sort By:
Pageof 16
Annals of Pediatric Endocrinology & Metabolism|October 15, 2019
Congenital hypothyroidism due to thyroglobulin deficiency: a case report with a novel mutation in TG geneSeung Heo, Ja-Hyun Jang, Jeesuk Yu
Experimental & Molecular Medicine|April 13, 2026
Targeted long-read sequencing for high-resolution repeat profiling in myotonic dystrophy type 1Yoojung Han, Ja-Hyun Jang, Hyeshik Chang
Clinical Nephrology|February 9, 2021
Refractory ascites induced by mycophenolate in a pediatric kidney transplant patientJeong Yeon Kim, Ja-Hyun Jang, Heeyeon Cho
Genes|September 28, 2021
Performance Evaluation of SpliceAI for the Prediction of Splicing of <i>NF1</i> VariantsChanghee Ha, Jong-Won Kim, Ja-Hyun Jang
Diagnostics (Basel, Switzerland)|August 6, 2020
Incidental Severe Fatty Degeneration of the Erector Spinae in a Patient with L5-S1 Disc Extrusion Diagnosed with Limb-Girdle Muscular Dystrophy R2 Dysferin-RelatedDu Hwan Kim, Dae-Hyun Jang, Ja-Hyun Jang
Molecular Cytogenetics|January 22, 2015
TRIP11-PDGFRB fusion in a patient with a therapy-related myeloid neoplasm with t(5;14)(q33;q32) after treatment for acute promyelocytic leukemiaHoon-Gu Kim, Ja-Hyun Jang, Eun-Ha Koh
Nutrients|September 28, 2021
An Updated Comprehensive Review on Vitamin A and Carotenoids in Breast Cancer: Mechanisms, Genetics, Assessment, Current Evidence, and Future Clinical ImplicationsJee Ah Kim, Ja-Hyun Jang, Soo-Youn Lee
Annals of Pediatric Endocrinology & Metabolism|January 7, 2020
First identified Korean family with Tatton-Brown-Rahman Syndrome caused by the novel DNMT3A variant c.118G>C p.(Glu40Gln)Cha Gon Lee, Ja-Hyun Jang, Ji-Young Seo
Korean Journal of Ophthalmology : KJO|June 19, 2024
Mitochondrial Retinopathy by MT-ATP6 Variant Revealed by Whole-Genome Sequencing: A Case ReportJaehwan Choi, Sungsoon Hwang, Ja-Hyun Jang, et al.
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.
Pageof 16