Jong-hee H. Chae

Seoul, Republic of Korea

Last Updated: 09/26/2026

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Found 180 publications

Anti-SRP immune-mediated necrotizing myopathy from childhood to adulthood: A case series highlighting rituximab-responsive disease.

Anti-SRP immune-mediated necrotizing myopathy from childhood to adulthood: A case series highlighting rituximab-responsive disease.

Journal: Journal of neuromuscular diseases

Published: August 19, 2026

Focal Cerebral Arteriopathy Severity Score Validation and Temporal Dynamics in Korean Pediatric Stroke: Distinguishing Inflammatory Arteriopathy From Unilateral Moyamoya Disease.

Focal Cerebral Arteriopathy Severity Score Validation and Temporal Dynamics in Korean Pediatric Stroke: Distinguishing Inflammatory Arteriopathy From Unilateral Moyamoya Disease.

Journal: Stroke

Published: May 01, 2026

Focal Cerebral Arteriopathy Severity Score Validation and Temporal Dynamics in Korean Pediatric Stroke: Distinguishing Inflammatory Arteriopathy From Unilateral Moyamoya Disease.

Focal Cerebral Arteriopathy Severity Score Validation and Temporal Dynamics in Korean Pediatric Stroke: Distinguishing Inflammatory Arteriopathy From Unilateral Moyamoya Disease.

Journal: Stroke

Published: May 01, 2026

Optimized Cas9-Enriched Nanopore Sequencing and Analysis Workflow for Clinical Diagnosis of Repeat Expansion Disorders.

Optimized Cas9-Enriched Nanopore Sequencing and Analysis Workflow for Clinical Diagnosis of Repeat Expansion Disorders.

Journal: Advanced science (Weinheim, Baden-Wurttemberg, Germany)

Published: April 24, 2026

Systemic single-cell analysis of GPP reveals treatment-responsive and persistent immune signatures.

Systemic single-cell analysis of GPP reveals treatment-responsive and persistent immune signatures.

Journal: Clinical and translational medicine

Published: April 13, 2026

Unraveling missing variants through target capture-based long-read sequencing in autosomal recessive disorders.

Unraveling missing variants through target capture-based long-read sequencing in autosomal recessive disorders.

Journal: European journal of human genetics : EJHG

Published: March 10, 2026

Hip Displacement in Spinal Muscular Atrophy in the Early Disease-Modifying Therapy Era: Association With Hip Pain and Timing of Therapy Initiation.

Hip Displacement in Spinal Muscular Atrophy in the Early Disease-Modifying Therapy Era: Association With Hip Pain and Timing of Therapy Initiation.

Journal: Journal of pediatric orthopedics

Published: November 11, 2025

SUPT16H-associated neurodevelopmental disorder and neurocristopathy: genetic and phenotypic spectrum.

SUPT16H-associated neurodevelopmental disorder and neurocristopathy: genetic and phenotypic spectrum.

Journal: Human molecular genetics

Published: November 07, 2025

Exploring the Impact of RNU4-2 Defects on Neurodevelopmental Disorders in a Korean Population.

Exploring the Impact of RNU4-2 Defects on Neurodevelopmental Disorders in a Korean Population.

Journal: Clinical genetics

Published: September 23, 2025

Identifying genetic causes and establishing a diagnostic approach for WES-negative pediatric population with neurodevelopmental disorder.

Identifying genetic causes and establishing a diagnostic approach for WES-negative pediatric population with neurodevelopmental disorder.

Journal: European journal of human genetics : EJHG

Published: September 20, 2025

KCTD3 deficiency disrupts axon initial segment organization and neurite outgrowth in a neurodevelopmental disorder mouse model.

KCTD3 deficiency disrupts axon initial segment organization and neurite outgrowth in a neurodevelopmental disorder mouse model.

Journal: Communications biology

Published: September 06, 2025

Confirmatory long-term efficacy and safety results of ataluren in patients with nmDMD from Study 041, an international, randomized, double-blind, placebo-controlled, Phase III trial.

Confirmatory long-term efficacy and safety results of ataluren in patients with nmDMD from Study 041, an international, randomized, double-blind, placebo-controlled, Phase III trial.

Journal: Journal of comparative effectiveness research

Published: August 22, 2025

Showing 1-12 of 180

Last Updated: 09/26/2026