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Connective Tissue Research
|
September 1, 2020
Diversity in heritable disorders of connective tissue at a single center
Rai-Hseng Hsu, Yin-Hsiu Chien, Wuh-Liang Hwu, et al.
Pediatrics and Neonatology
|
December 23, 2022
Occurrence of sotos syndrome and coffin-siris syndrome in a family
Hui-An Chen, Nai-Qi Chen, Rai-Hseng Hsu, et al.
Molecular Genetics & Genomic Medicine
|
May 7, 2026
GPIHBP1 Autoantibody-Related Hypertriglyceridemia in Children: A Report of Two Cases and a Review of Pediatric Cases From the Literature
Rai-Hseng Hsu, Wuh-Liang Hwu, Feng-Jung Yang, et al.
Orphanet Journal of Rare Diseases
|
November 11, 2023
Late-onset symptomatic hyperprolactinemia in 6-pyruvoyl-tetrahydropterin synthase deficiency
Rai-Hseng Hsu, Ni-Chung Lee, Hui-An Chen, et al.
Molecular Genetics and Metabolism Reports
|
September 16, 2024
Ataluren-mediated nonsense variant readthrough in D-bifunctional protein deficiency: A case report
Rai-Hseng Hsu, Ni-Chung Lee, Hui-An Chen, et al.
Pediatrics and Neonatology
|
October 2, 2022
Next-generation sequencing reanalysis identifies Coffin-Siris syndrome with an initial diagnosis of hypertrophic cardiomyopathy
Rai-Hseng Hsu, Ni-Chung Lee, Ming-Tai Lin, et al.
JAMA Dermatology
|
May 21, 2025
Pseudoxanthoma Elasticum-Like Phenotype With a Novel MGP Variant
Yun-Shiuan Olivia Hsu, Rai-Hseng Hsu, Jau-Yu Liau, et al.
Molecular Genetics and Metabolism Reports
|
March 12, 2024
Twelve-year review of galactosemia newborn screening in Taiwan: Evolving methods and insights
Hui-An Chen, Rai-Hseng Hsu, Li-Chu Chen, et al.
Pediatrics and Neonatology
|
January 4, 2025
Double-outlet right ventricle in a patient with Takenouchi-Kosaki syndrome
Po-Jung Lai, Wei-Chieh Tseng, Hui-An Chen, et al.
JIMD Reports
|
September 13, 2023
Aromatic l-amino acid decarboxylase deficiency in Taiwan
Wuh-Liang Hwu, Rai-Hseng Hsu, Mei-Hsin Li, et al.
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Search research articles
Search
Showing results (1-10 of 25) with videos related to
Sort By:
Page
of 3
Connective Tissue Research
|
September 1, 2020
Diversity in heritable disorders of connective tissue at a single center
Rai-Hseng Hsu, Yin-Hsiu Chien, Wuh-Liang Hwu, et al.
Pediatrics and Neonatology
|
December 23, 2022
Occurrence of sotos syndrome and coffin-siris syndrome in a family
Hui-An Chen, Nai-Qi Chen, Rai-Hseng Hsu, et al.
Molecular Genetics & Genomic Medicine
|
May 7, 2026
GPIHBP1 Autoantibody-Related Hypertriglyceridemia in Children: A Report of Two Cases and a Review of Pediatric Cases From the Literature
Rai-Hseng Hsu, Wuh-Liang Hwu, Feng-Jung Yang, et al.
Orphanet Journal of Rare Diseases
|
November 11, 2023
Late-onset symptomatic hyperprolactinemia in 6-pyruvoyl-tetrahydropterin synthase deficiency
Rai-Hseng Hsu, Ni-Chung Lee, Hui-An Chen, et al.
Molecular Genetics and Metabolism Reports
|
September 16, 2024
Ataluren-mediated nonsense variant readthrough in D-bifunctional protein deficiency: A case report
Rai-Hseng Hsu, Ni-Chung Lee, Hui-An Chen, et al.
Pediatrics and Neonatology
|
October 2, 2022
Next-generation sequencing reanalysis identifies Coffin-Siris syndrome with an initial diagnosis of hypertrophic cardiomyopathy
Rai-Hseng Hsu, Ni-Chung Lee, Ming-Tai Lin, et al.
JAMA Dermatology
|
May 21, 2025
Pseudoxanthoma Elasticum-Like Phenotype With a Novel MGP Variant
Yun-Shiuan Olivia Hsu, Rai-Hseng Hsu, Jau-Yu Liau, et al.
Molecular Genetics and Metabolism Reports
|
March 12, 2024
Twelve-year review of galactosemia newborn screening in Taiwan: Evolving methods and insights
Hui-An Chen, Rai-Hseng Hsu, Li-Chu Chen, et al.
Pediatrics and Neonatology
|
January 4, 2025
Double-outlet right ventricle in a patient with Takenouchi-Kosaki syndrome
Po-Jung Lai, Wei-Chieh Tseng, Hui-An Chen, et al.
JIMD Reports
|
September 13, 2023
Aromatic l-amino acid decarboxylase deficiency in Taiwan
Wuh-Liang Hwu, Rai-Hseng Hsu, Mei-Hsin Li, et al.
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of 3