Congenital hypothyroidism due to thyroglobulin deficiency: a case report with a novel mutation in gene

by Seung Heo, Ja-Hyun Jang, Jeesuk Yu
Published 2019-09-01

Performance Evaluation of SpliceAI for the Prediction of Splicing of <i>NF1</i> Variants

by Changhee Ha, Jong-Won Kim, Ja-Hyun Jang
Published 2021-08-01

Incidental Severe Fatty Degeneration of the Erector Spinae in a Patient with L5–S1 Disc Extrusion Diagnosed with Limb-Girdle Muscular Dystrophy R2 Dysferin-related

by Du Hwan Kim, Dae-Hyun Jang, Ja-Hyun Jang
Published 2020-07-01

First identified Korean family with Tatton-Brown-Rahman Syndrome caused by the novel variant c.118G>C p.(Glu40Gln)

by Cha Gon Lee, Ja-Hyun Jang, Ji-Young Seo
Published 2019-12-01

An Updated Comprehensive Review on Vitamin A and Carotenoids in Breast Cancer: Mechanisms, Genetics, Assessment, Current Evidence, and Future Clinical Implications

by Jee Ah Kim, Ja-Hyun Jang, Soo-Youn Lee
Published 2021-09-01

Targeted Next-Generation Sequencing of Korean Patients With Developmental Delay and/or Intellectual Disability

by Ji Yoon Han, Ja Hyun Jang, Joonhong Park, In Goo Lee
Published 2018-12-01

Two Novel Mutations (c.883-4_890del and c.1684C>G) of WDR62 Gene Associated With Autosomal Recessive Primary Microcephaly: A Case Report

by You Gyoung Yi, You Gyoung Yi, Dong-Woo Lee, Jaewon Kim, Ja-Hyun Jang, Ja-Hyun Jang, Sae-Mi Lee, Sae-Mi Lee, Dae-Hyun Jang
Published 2019-11-01

Analytical Validation of a Pan-Cancer Panel for Cell-Free Assay for the Detection of <i>EGFR</i> Mutations

by Min-Kyung So, Jong-Ho Park, Jong-Won Kim, Ja-Hyun Jang
Published 2021-06-01

Two novel mutations in TTN of a patient with congenital myopathy: A case report

by Joon Young Jang, Yulhyun Park, Dae‐Hyun Jang, Ja‐Hyun Jang, Ju Seok Ryu
Published 2019-08-01

Hereditary Sensory and Autonomic Neuropathy 2B Caused by a Novel RETREG1 Mutation (c.765dupT) and Paternal Uniparental Isodisomy of Chromosome 5

by Geun-Young Park, Dae-Hyun Jang, Dong-Woo Lee, Ja-Hyun Jang, Joungsu Joo
Published 2019-10-01

Case Report: Co-occurrence of Duchenne Muscular Dystrophy and Frontometaphyseal Dysplasia 1

by Jaewon Kim, Dong-Woo Lee, Ja-Hyun Jang, Myungshin Kim, Jisook Yim, Dae-Hyun Jang
Published 2021-02-01

Trio-Based Whole-Exome Sequencing Identifies a De novo EFNB1 Mutation as a Genetic Cause in Female Infant With Brain Anomaly and Developmental Delay

by Ji Yoon Han, Hyun Jeong Kim, Ja Hyun Jang, In Goo Lee, Joonhong Park, Joonhong Park
Published 2020-09-01

Serum 5-Hydroxyindoleacetic Acid and Ratio of 5-Hydroxyindoleacetic Acid to Serotonin as Metabolomics Indicators for Acute Oxidative Stress and Inflammation in Vancomycin-Associate...

by Hyun-Seung Lee, Sang-Mi Kim, Ja-Hyun Jang, Hyung-Doo Park, Soo-Youn Lee
Published 2021-06-01

Compound heterozygous variants including a novel copy number variation in a child with atypical ataxia-telangiectasia: a case report

by Hoo Young Lee, Dae-Hyun Jang, Jae-Won Kim, Dong-Woo Lee, Ja-Hyun Jang, Joungsu Joo
Published 2021-08-01

Correlation Between Vanishing White Matter Disease and Novel Heterozygous Variants Using Next-Generation Sequencing: A Case Report

by Sung Eun Hyun, Byung Se Choi, Ja-Hyun Jang, Inpyo Jeon, Dae-Hyun Jang, Ju Seok Ryu
Published 2019-04-01

Correction to: Compound heterozygous variants including a novel copy number variation in a child with atypical ataxia-telangiectasia: a case report

by Hoo Young Lee, Dae-Hyun Jang, Jae-Won Kim, Dong-Woo Lee, Ja-Hyun Jang, Joungsu Joo
Published 2021-09-01

A case of vitamin D hydroxylation-deficient rickets type 1A caused by 2 novel pathogenic variants in gene

by You-Min Kim, Yoon-Young Jang, Ji-Eun Jeong, Hye-Jin Park, Ja-Hyun Jang, Jin-Kyung Kim
Published 2019-06-01

An atypical case of Noonan syndrome with mutation diagnosed by targeted exome sequencing

by Jinsup Kim, Sung Yoon Cho, Aram Yang, Ja-Hyun Jang, Youngbin Choi, Ji-Eun Lee, Dong-Kyu Jin
Published 2017-09-01

Usefulness of comprehensive targeted multigene panel sequencing for neuromuscular disorders in Korean patients

by Jihye Park, Hyun Mi Oh, Hye Jung Park, Ah‐Ra Cho, Dong‐Woo Lee, Ja‐Hyun Jang, Dae‐Hyun Jang
Published 2019-10-01

Nonclassic congenital lipoid adrenal hyperplasia diagnosed at 17 months in a Korean boy with normal male genitalia: emphasis on pigmentation as a diagnostic clue

by Hosun Bae, Min-Sun Kim, Hyojung Park, Ja-Hyun Jang, Jong-Moon Choi, Sae-Mi Lee, Sung Yoon Cho, Dong-Kyu Jin
Published 2020-03-01