Shuan-Pei Lin

41PUBLICATIONS
31CO-AUTHORS
NeonatologyMedical biotechnology diagnostics (incl. biosensors)Chemical and thermal processes in energy and combustionChild and adolescent developmentImmunogenetics (incl. genetic immunology)
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Publications (41)

|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 <i>EZH2</i> 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

|Sep 22, 2025
Novel Phenotypic Insights into the <i>IDS</i> c.817C>T Variant in Mucopolysaccharidosis Type II from Newborn Screening Cohorts.

Éliane Beauregard-Lacroix, Caitlin Menello, Madeline Steffensen

|May 14, 2025
Functional Independence of Taiwanese Children with Silver-Russell Syndrome.

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

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