Chih-Kuang Chuang

31PUBLICATIONS
24CO-AUTHORS
Cardiology (incl. cardiovascular diseases)GenomicsMedical biotechnology diagnostics (incl. biosensors)Chemical and thermal processes in energy and combustionChild and adolescent development
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (31)

|Aug 27, 2026
From Genotype to Cardiac Phenotype: Cardiovascular Involvement in Syndromic and Metabolic Disorders.

|Jul 28, 2026
Autophagy-Lysosomal Dysfunction as a Converging Mechanism of Cardiomyopathy in Lysosomal Storage Disorders: From Pathobiology to Targeted Therapy.

|Jul 28, 2026
From Array-CGH to Whole-Genome Sequencing: A 29-Year Diagnostic Journey Culminating in the Identification of a De Novo ABCC9 Variant Consistent with Cantú Syndrome.

|Mar 14, 2026
Skipping the Biopsy: Real-World Experience of Whole-Exome Sequencing as First-Tier Testing in Pediatric Muscular Disorders.

Chung-Lin Lee, Ya-Hui Chang, Chih-Kuang Chuang

|Nov 27, 2025
From Overgrowth to Complex Malformations: A Novel EZH2 Variant Reveals the Expanding Clinical Spectrum of Weaver Syndrome.

Chung-Lin Lee, Chih-Kuang Chuang, Huei-Ching Chiu

|Oct 16, 2025
Functional Independence Assessment in Children and Adolescents with Achondroplasia: A Multicenter Cross-Sectional Study Using the WeeFIM Scale.

Chung-Lin Lee, Hung-Hsiang Fang, Chih-Kuang Chuang

Pageof 6

Frequent Collaborators

31 joint publications

Hsiang-Yu Lin

17 joint publications

Chung-Lin Lee

4 joint publications

Ming-Ren Chen

4 joint publications

Yu-Min Syu