Publications by authors named "Chung-Lin Lee"

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From Overgrowth to Complex Malformations: A Novel Variant Reveals the Expanding Clinical Spectrum of Weaver Syndrome.
Chung-Lin Lee, Chih-Kuang Chuang, Huei-Ching Chiu, Ya-Hui Chang, Yuan-Rong Tu

Children (Basel)· November 2025

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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, Dau-Ming Niu, Ju-Li Lin

Diagnostics (Basel)· October 2025

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Predicting hemorrhagic complications in robotic-assisted partial nephrectomy for renal tumors: simplifying risk assessment with tumor diameter and depth.
I-Hung Shao, Chung-Lin Lee, Yu-Hsiang Lin, Hsiang-Sheng Wang, Ming-Chien Chen

J Robot Surg· July 2025

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Understanding Genetic Screening: Harnessing Health Information to Prevent Disease Risks.
Chung-Lin Lee, Chih-Kuang Chuang, Huei-Ching Chiu, Ya-Hui Chang, Yuan-Rong Tu

Int J Med Sci· May 2025

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Early Potentially Irreversible Cardiac Damage in Fabry Disease Precedes Gb3 Inclusion Body Formation.
Chung-Lin Lee, Pei-Sin Chen, Yu-Ying Lu, Yu-Ting Chiang, Ching-Tzu Yen

Can J Cardiol· May 2025

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Systematic Analysis of Multiple Imaging Modalities in Infants Diagnosed with Mucopolysaccharidosis by Newborn Screening.
Chung-Lin Lee, Szu-Wen Chang, Hung-Hsiang Fang, Chih-Kuang Chuang, Huei-Ching Chiu

Diagnostics (Basel)· April 2025

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Functional Independence of Taiwanese Children with Silver-Russell Syndrome.
Hung-Hsiang Fang, Chung-Lin Lee, Chih-Kuang Chuang, Huei-Ching Chiu, Ya-Hui Chang

Diagnostics (Basel)· April 2025

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Enzyme Replacement Therapy in Mucopolysaccharidosis Type VII: A Three-Year Clinical Outcome Study of the First Taiwanese Case.
Chung-Lin Lee, Chih-Kuang Chuang, Huei-Ching Chiu, Ya-Hui Chang, Yuan-Rong Tu

Diagnostics (Basel)· February 2025

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Implementation of newborn screening for mucopolysaccharidosis type IVA and long-term monitoring in Taiwan.
Hsiang-Yu Lin, Chung-Lin Lee, Ya-Hui Chang, Yuan-Rong Tu, Yun-Ting Lo

Genet Med· December 2024

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Whole Exome Sequencing Facilitates Early Diagnosis of Lesch-Nyhan Syndrome: A Case Series.
Hung-Hsiang Fang, Chung-Lin Lee, Hui-Ju Chen, Chih-Kuang Chuang, Huei-Ching Chiu

Diagnostics (Basel)· December 2024

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Application of near-infrared-to-blue upconversion luminescence for the polymerization of resin cements through zirconia discs.
Yu-Cheng Chou, Shu-Fen Chuang, Jui-Che Lin, Chia-Ling Li, Bang-Yan Liu, Chung-Lin Lee

Dent Mater· August 2024

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Genetic and Phenotypic Spectrum of Variants in Taiwanese Case Series of Kabuki Syndrome.
Chung-Lin Lee, Chih-Kuang Chuang, Ming-Ren Chen, Ju-Li Lin, Huei-Ching Chiu

Diagnostics (Basel)· August 2024

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Multisystem disorder associated with a pathogenic variant in CLCN7 in the absence of osteopetrosis.
Chung-Lin Lee, Yeun-Wen Chang, Hsiang-Yu Lin, Hung-Chang Lee, Ting-Chi Yeh, Ni-Chung Lee

Mol Genet Genomic Med· July 2024

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Application of whole exome sequencing in the diagnosis of muscular disorders: a study of Taiwanese pediatric patients.
Chung-Lin Lee, Chih-Kuang Chuang, Huei-Ching Chiu, Ya-Hui Chang, Yuan-Rong Tu

Front Genet· May 2024

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Illuminating the Genetic Basis of Congenital Heart Disease in Patients with Kabuki Syndrome.
Chung-Lin Lee, Chih-Kuang Chuang, Ming-Ren Chen, Ju-Li Lin, Huei-Ching Chiu

Diagnostics (Basel)· April 2024

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Quantitative DNA Methylation Analysis and Epigenotype-Phenotype Correlations in Taiwanese Patients with Silver-Russell Syndrome.
Hsiang-Yu Lin, Chung-Lin Lee, Yuan-Rong Tu, Ya-Hui Chang, Dau-Ming Niu, Chen-Hao Lee

Int J Med Sci· January 2024

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22q11.2 Deletion Syndrome in Taiwan: Clinical Presentation and Immune System Status of Patients.
Chung-Lin Lee, Shan-Miao Lin, Ming-Ren Chen, Chih-Kuang Chuang, Huei-Ching Chiu

Int J Med Sci· October 2023

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Changes in prostate-specific antigen kinetics during androgen-deprivation therapy as a predictor of response to abiraterone in chemonaïve patients with metastatic castration-resistant prostate cancer.
Chung-Lin Lee, Ying-Hsu Chang, Chung-Yi Liu, Ming-Li Hsieh, Liang-Kang Huang

Investig Clin Urol· September 2022

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Updated Confirmatory Diagnosis for Mucopolysaccharidoses in Taiwanese Infants and the Application of Gene Variants.
Chih-Kuang Chuang, Yuan-Rong Tu, Chung-Lin Lee, Yun-Ting Lo, Ya-Hui Chang

Int J Mol Sci· September 2022

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De Novo Mosaic 6p23-p25.3 Tetrasomy Caused by a Small Supernumerary Marker Chromosome Presenting Trisomy Distal 6p Phenotype: A Case Report and Literature Review.
Yu-Min Syu, Juine-Yih Ma, Tzu-Hsuen Ou, Chung-Lin Lee, Hsiang-Yu Lin, Chia-Jung Lee

Diagnostics (Basel)· September 2022

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Efficacy of Intravenous Elosulfase Alfa for Mucopolysaccharidosis Type IVA: A Systematic Review and Meta-Analysis.
Chung-Lin Lee, Chih-Kuang Chuang, Yu-Min Syu, Huei-Ching Chiu, Yuan-Rong Tu

J Pers Med· August 2022

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Functional Independence of Taiwanese Children with Osteogenesis Imperfecta.
Yu-Min Syu, Chung-Lin Lee, Chih-Kuang Chuang, Huei-Ching Chiu, Ya-Hui Chang

J Pers Med· July 2022

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Rapid Weight Loss and Severe Failure to Thrive Mimicking Lipodystrophy Syndrome in a 1-Year-Old Taiwanese Girl with Costello Syndrome.
Yu-Min Syu, Hung-Chang Lee, Jui-Hsing Chang, Chung-Lin Lee, Chih-Kuang Chuang

Children (Basel)· June 2022

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Newborn Screening Program for Mucopolysaccharidosis Type II and Long-Term Follow-Up of the Screen-Positive Subjects in Taiwan.
Hsiang-Yu Lin, Ya-Hui Chang, Chung-Lin Lee, Yuan-Rong Tu, Yun-Ting Lo

J Pers Med· June 2022

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Long-Term Cardiovascular Findings in Williams Syndrome: A Single Medical Center Experience in Taiwan.
Chung-Lin Lee, Shan-Miao Lin, Ming-Ren Chen, Chih-Kuang Chuang, Yu-Min Syu

J Pers Med· May 2022

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